Endocrinology

A child aged 10 days has ambiguous genitalia. Which of the following may be causative. Available marks are shown in brackets if a buccal smear is chromatin negative there is a serious risk of an Addisonian 1) crisis a raised urinary output of pregnanetriol would confirm a diagnosis of congenital 2) adrenal hyperplasia 3 ) the finding of the genotype 45 XO would reliably explain the anomaly if testicles are present in the "labia" an acceptable explanation would be 4) Klinefelter's syndrome the most important factor in deciding the sex to which the child should be 5) assigned is the genetic (chromosomal) sex

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Comments: If the buccal smear positive ie female then there would be at increased risk of salt crisis. Salt losers presenting in newborn period with crisis are more likely to be female. The commonest cause of ambiguous genitalia at birth is CAH, of which 95% are deficient in 21-hydroxylase. Less common enzyme defects involve 11B hydroxylase, and 3B hydroxysteroid dehydrogenase. About 2/3 of 21-hydroxylase are salt losers, and present with an hypoadrenal crisis. There is normal male genitalia in 47 XXY Klinefelters and Turners - XO. In intersex states, the assignation of sex is not totally based on the karyotype. Which of the following doses of prednisolone is equivalent in its glucocorticoid potency to 20mg of hydrocortisone. Available marks are shown in brackets 1 ) 2 mg 2 ) 5 mg 3 ) 10 mg 4 ) 15 mg 5 ) 20 mg Comments: It is important to know the relative potencies of the glucocorticoids. Dexamethasone for instance is roughly 30 times more potent than hydrocortisone.

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A 15 year old girl is referred by her general practitioner with agitation and weight gain. Her mother accompanies her during the consultation and explains that over the last 2 months she

Endocrinology 1

has become increasingly agitated with poor sleep. Her progress at school has up until recently, been fine, although of late she has been apathetic. She has no past medical history of note, although family history reveals that her mother was treated for an 'overactive thyroid' and now takes thyroxine tablets. Examination reveals no specific abnormalities with a blood pressure of 112/70 mmHg and a BMI of 20. Her GPs letter reveals the following results: TSH 3.2 mU/L (0. 35 - 5.0) Total T4 250 nmol/L (55 - 144) free T4 12.9 pmol/L (9 - 24) Total T3 3.2 nmol/L (0. 9 - 2.8) free T3 3.8 pmol/l (3.0-5.8) What is the likely explanation for her presentation and results? Available marks are shown in brackets 1) Bulimia Nervosa 2) Dysthyroglobulinaemia 3) Factitious Thyrotoxicosis 4) Graves Disease 5) Pregnancy

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Comments: This young girl has normal TFTs as reflected by free T4, T3 and normal TSH. However, her total T4 and T3 are elevated suggesting elevated Thyroid Hormone Binding, a feature of pregnancy. Dysthyroglobulinaemia - Pendred's syndrome is a combination of Hypothyroidism, goitre and Deafness. A 16 year old female patient is refered with primary amenorrhoea. Investigations reveal a 46 XY karyotype. Which of the following concerning the condition is true? Available marks are shown in brackets 1 ) A diagnosis of Turner's syndrome is likely It is likely that her mother received Carbimazole for thyrotoxicosis during 2) pregnancy 3 ) Low testosterone and oestradiol concentrations would be expected 4 ) The diagnosis is likely to be testicular feminisation syndrome 5 ) The diagnosis is Noonan's syndrome

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Comments: A female phenotype can occur in testicular feminisation, a condition associated with androgen insensitivity due to an androgen receptor defect. Stilboestrel therapy has been associated with the induction of loatent tumours and to influence sexual behaviour but is not associated with abnormalities of sexual identity. In Noonan's syndrome, infants are males but physical features resemble that found in Turner's syndrome. Neither prednisolone nor maternal thyrotoxicosis would cause gender mal-assignment problems.

In a boy of 7 who was operated upon for a craniopharyngioma, which of the following disorders can be expected to develop over the next couple of years: Available marks are shown in brackets

Endocrinology 2

1) 2) 3) 4) 5)

Diabetes mellitus hyponatraemia poor growth Precocious puberty Spastic diplegia

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Comments: Pan hypopituitarism following surgical treatment would be expected, hence poor growth. Diabetes insipidus and hypernatraemia rather than hyponatraemia may be observed. Delayed puberty would be expected rather than precocious puberty. Spastic diplegia would suggest extensive lateral expansion, which would not be expected. Diabetes mellitus is not a usual consequence. The thyroid hormone receptor is: Available marks are shown in brackets 1) A gated ion channel 2) A cell surface receptor 3) A cytoplasmic protein 4) A G-protein coupled receptor 5) A nuclear receptor

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Comments: The thyroid hormone receptor is a nuclear receptor. When it binds T3 it is able to bind to the thyroid hormone response element (TRE) in the promoter region of thyroid hormone responsive genes and initiates transcription. Which one of the following options would not be expected in association with poorly controlled hypothyroidism in an 18 month old infant? Available marks are shown in brackets 1) High plasma TSH concentration 2) Delayed bone age 3) Umbilical hernia 4) Diarrhoea 5) delayed development milestones [0] [0] [0] [100] [0]

Comments: High plasma TSH concentration with low Free Thyroxine level would occur. Thyroid hormone is a prerequisite for normal growth and cognitive /psychomotor development so bone age and developmental milestones would be delayed. Umbilical herniae are a feature. Constipation is a feature rather than diarrhoea. 2 week old male child is brought to casualty by his concerned parents with diarrhoea and vomiting. He is the first child of a young couple. Examination reveals few features besides obvious dehydration. He is noted to have a penile length of 3.5cms. Which of the following is the most appropriate inital treatment for this patient? Available marks are shown in brackets

Endocrinology 3

1) 2) 3) 4) 5)

Cow's milk allergy is the most likely diagnosis gluten-enteropathy should be excluded Requires urgent treatment with oral steroids Requires urgent treatment with IV normal saline Rota virus gastroenteritis is the most likely diagnosis

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Comments: The history suggests a diagnosis of classical congenital adrenal hyperplasia which is commonly due to 21 hydroxylase deficiency. A variable presentation is typical but neonatal presentations include salt losing crisis, penile development in the male virilisation and ambiguous genitialia in females. Patients should initially be resuscitated with fluid, usually saline and if suspicious, urgent biochemistry requested for cortisol, 17OHP etc prior to administration of intravenous steroids. A 16 year old female presents with hypertension and increasing weight. Which of the following features would be most suggestive of Cushing's syndrome rather than simple obesity? Available marks are shown in brackets 1) Abdominal striae 2) Acanthosis Nigricans 3) Buffalo Hump (interscapular fat pad) 4) Moon face 5) Proximal myopathy

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Comments: Proximal myopathy, easy bruising and thin skin are clinical features that are most suggestive of Cushing's syndrome. Otherwise, abdominal striae, buffalo hump, and acanthosis nigricans are all features of obesity. Similarly Oligomennorhoea would be a feature of obesity/polycystic ovarian syndrome. Which ONE of the following is true concerning Antidiuretic hormone (ADH)? Available marks are shown in brackets 1 ) Carbamazepine potentiates it's release 2 ) Ethanol potentiates it's release 3 ) It circulates in the blood bound to neurohypophysin 4 ) It is a cyclic octapeptide 5 ) It is synthesised in the posterior pituitary

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Comments: ADH is a nonapeptide manufactured in the paraventricular and supra-optic nuclei of the hypothalamus and released from the posterior pituitary. It acts on the collecting ducts improving water permeability and hence water retention. Carbamazepine as well as other agents such as thiazides and SSRIs may potentiate its release. Ethanol usually inhibits release. A 14 day old boy is admitted with collapse. She was born at 38+2/40 weighing 3.47kg to a healthy Caucasian mother. Pregnancy and delivery had been uncomplicated. Following discharge she had failed to gain weight, and began vomiting 3 days ago. This had persisted

Endocrinology 4

and worsened. Over the past 2 days the nappies had been wet twice a day. On examination temperature 36.2C(tympanic), HR 160/min (thready pulses), RR 40/min. No murmur, chest clinically clear. Abdomen soft with no organomegaly. O2 saturations 85% in air. Blood tests show: Na K Urea Creatinine 127 mmol/l 5.8 mmol/l 13.7 mmol/l 74

What is the most likely diagnosis? Available marks are shown in brackets 1) Congenital adrenal hyperplasia 2) Congenital heart disease 3) Inborn errors of metabolism 4) Sepsis Comments: The picture is one of shock in a child who has become progressively dehydrated. Sepsis and congenital heart disease are possible, but there is nothing specific to point in these directions. The electrolytes make the likely diagnosis salt-losing congenital adrenal hyperplasia. An 11 year old girl is admitted with drowsiness and difficulty in breathing. She was well until 3 weeks ago when she began feeling tired and losing weight. She has been very thirsty and has been drinking lots of lucozade (high glucose drink) to give her energy. There is no other history of note. Mother has 'thyroid disease'. On examination she reponds only to pain. She has deep sighing breathing at 15/min, and a heart rate of 100/min. Her temperature is 36.8C (tympanic). Oxygen saturations are 97% in air. She has cool peripheries and a capillary refill time of 4 seconds. What is the most likely diagnosis? Available marks are shown in brackets 1) Child abuse 2) Hepatic failure 3) Hypoglycaemia 4) Diabetic ketoacidosis 5) Substance abuse Comments: The history of weight loss, polydipsia and polyuria over 3 weeks suggest diabetes mellitus. Other autoimmune diseases run in the family. She has decreased level of consciousness,

[100] [0] [0] [0]

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Endocrinology 5

early shock and Kussmaul breathing so the diagnosis is diabetic ketoacidosis. The BM stix here was 48 mmol/l. Which of the following is correct concerning Type 1 Diabetes in children. Available marks are shown in brackets 1 ) Insulin therapy should be given only when oral hypoglycaemic agents fail 2 ) There is a strong hereditary component 3 ) The onset of the disease is usually acute 4 ) Retinopathy is commonly seen upon diagnosis. The adequacy of glycaemic control is most reliably assessed by twice daily 5) urinalysis

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Comments: The disease often presents with ketoacidosis. The genetic associations in type 1 Diabetes are less strong. For example the risk of Type 1 Diabetes developing in the child is 6.3% if the father is affected and 1.3% if the mother is affected. Insulin therapy is given initially. Microvascular complications do not usually appear till 5-10 years after the diagnosis. Glycaemic control can be assessed by capillary glucose testing and measurement of HbA1C. Which of the following statements applies to Precocious puberty: Available marks are shown in brackets 1 ) Is less common in girls 2 ) In boys it is usually idiopathic 3 ) Is a well recognised sequel to hydrocephalus 4 ) Is associated with a normal rate of skeletal maturation 5 ) Is treated with LHRH antagonists.

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Comments: Precocious puberty is approximately five times more common in females. In females it is usually idiopathic, in males the commonest cause is a hypothalamic hamartoma. CNS disorders such as hydrocephalus, head trauma, cerebral palsy and meningitis are aetiological factors. Skeletal maturation is accelerated. The condition is treated with LHRH agonists.

Which of the following techniques would be most useful in the differential diagnosis between ectopic Cushing's syndrome and pituitary dependent Cushing's disease. Available marks are shown in brackets 1 ) Urine free cortisol 2 ) High dose Dexamethasone suppression test 3 ) ACTH concentrations 4 ) Inferior petrosal sinus sampling 5 ) CRF test

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Comments: Inferior petrosal sinus sampling with an elevated central ACTH concentration compared with the peripheral value is the most valuable test in the differential diagnosis of either Cushing's disease or ectopic Cushing's syndrome. The other tests are far less useful in comparison.

Endocrinology 6

Which of the following is true regarding male sexual development: Available marks are shown in brackets The apex of the physical strength spurt antedotes the peak height velocity by six 1) months 2 ) Sperm production begins in the early stages 3 ) The earliest detectable evidence is pubic hair growth 4 ) The average prepubertal penile length is 8cm 5 ) The average testicular volume in the adult is 15ml Comments: The strength spurt occurs after the pubertal growth spurt. Spermatogenesis is commonly apparent from the age of 11 years and upwards, however motility, morphology and concentration do not reach adult levels till 17 years. The earliest detectable evidence of puberty in males is the increase in testicular size(length of 2.5cm and a volume of 4mls).The average prepubertal penile length is 6.4cm The average testicular volume in the adult is around 20-25mls. Causes of hypoadrenalism include: Available marks are shown in brackets 1 ) Hughes' syndrome (anti-phospholipid antibody) 2 ) MEN type 2a 3 ) VonHippel-Lindau 4 ) Pendred's syndrome 5 ) McArdle's syndrome

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Comments: The anti-phospholipid syndrome is one of the commoner causes of Hypoadrenalism and may precipitate adrenal infarction and haemorrhage through adrenal vein thrombosis. A 16 year old male with a day history of malaise, weakness and vomiting. He was diagnosed with Insulin dependent diabetes mellitus 3 years prviously. Which ONE of the following supports a diagnosis of diabetic ketoacidosis: Available marks are shown in brackets 1) Abdominal pain at onset 2) A serum bicarbonate of 10 mmol/l 3) A serum glucose 14 mmol/l 4) Decreased appetite in the past few days 5) Shallow respirations

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Comments: a-An unusual but recognised feature particularly in children. However does not support a diagnosis of DKA. b-Suggests metabolic acidosis. c-'Normoglycaemic DKA' can occur and a

Endocrinology 7

glucose of 14 doesn't rule out the diagnosis but it does not support the diagnosis. d-Usually patients are unwell with infections and anorexia. e-Respiratory compensation leads to rapid deep (Kussmaul's) breathing. (Dr Mike Mulcahy) A 17 year-old male student presents with a three week history of thirst, polyuria, balanitis and weight loss. What is the most appropriate next investigation? Available marks are shown in brackets 1) 75 g glucose tolerance test 2) Fructosamine concentration 3) HbA1c 4) Random plasma glucose concentration 5) Urinary ketones Comments: This patient obviously has diabetes mellitus and the diagnosis should be confirmed with either a fasting plasma glucose above 7 mmol/l or a random plasma glucose above 11.1 mmol/l.

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Which one of the following statements is correct concerning Glucose-6-phosphate dehydrogenase deficiency? Available marks are shown in brackets 1 ) it is inherited as an autosomal dominant condition. 2 ) The condition is more severe in males. 3 ) Is associated with drug induced haemolysis 4 ) Is an indication for splenectomy 5 ) blood transfusions are not indicated.

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Comments: G6PDH deficiency is an X linked recessive condition. It manifests more commonly in males but is not more severe. Drugs which cause haemolysis include aspirin, antimalarials, antibacterials and sulphonamides. Splenectomy is not helpful in the management of this condition. Blood transfusions may be life saving. A four year old boy presents in coma. For the previous few nights he has been enuretic, although previously dry. On admission he is dehydrated and his breath has a peculiar sweet smell. Blood gas analysis shows pH 7.12, pO2 95mmHg, pCO2 15mmHg, HCO3 10mmol/l. Which one of the following statements is correct?

Endocrinology 8

Available marks are shown in brackets 1 ) He has lactic acidosis 2 ) He has respiratory acidosis 3 ) Rehydration should be very slow in case of precipitating cardiac failure 4 ) The initial fluid of choice is 4% dextrose/0.18% saline solution 5 ) His breath will have a characterisitic smell of ketones

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Comments: His features are consistent with diabetic ketoacidosis and include history of enuresis secondary to polyuria, dehydration and ketotic breath. He has a metabolic acidosis as bicarbonate levels are low. Rehydration should be relatively quickly, however over vigorous correction of the fluid deficit will precipitate cerebral oedema. The initial choice of fluid is 0.9% saline normal saline A 3 month old boy is admitted unwell. Investigations reveal a hypokalaemic alkalosis. Which of the following may be responsible for this metabolic disturbance? Available marks are shown in brackets 1) feeds that are too concentrated 2) congenital pyloric stenosis 3) cystic fibrosis 4) previous urinary diversion 5) renal failure

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Comments: Metabolic alkalosis with hypokalemia is seen in pyloric stenosis because of the loss of stomach acid with K and HCl, and cystic fibrosis as in pseudo Bartter syndrome. Renal failure and urinary diversion cause metabolic acidosis. Bartter syndrome is a form of renal K wasting with elevated renin and aldosterone, the K is usually <2.5. Carcinoid tumours of the foregut may be associated with which of the following Available marks are shown in brackets 1) Cushing's syndrome 2) Hypercalcaemia 3) Pellagra 4) Pulmonary hypertension 5) Carcinoid syndrome

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Comments: Carcinoid tumours of the foregut unlike tumours of the midgut are not associated with carcinoid syndrome but may secrete CRF/ACTH resulting in ectopic Cushing's syndrome. Other associated conditions include somatostatinoma. Zollinger-Ellison syndrome and Acromegaly (ectopic GHRH). Which of the following is true of IGF-1 concentrations Available marks are shown in brackets

Endocrinology 9

1) 2) 3) 4) 5)

Concentrations are reduced in pregnancy Concentrations are elevated in hepatic cirrhosis Concentrations are usually elevated in adult growth hormone deficiency Concentrations are reduced in starvation Concentrations are elevated in diabetes mellitus

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Comments: IGF-1 concentrations are often increased in pregnancy. Reduced IGF-1 is typically found in adult GHD, Cirrhosis of the liver due to reduced synthesis, diabetes mellitus and starvation. Which ONE of the following is a recognised feature of achondroplasia? Available marks are shown in brackets 1) Autosomal recessive inheritance 2) May be diagnosed radiologically at birth 3) Increased liability to pathological fractures 4) Shortened spine 5) Subfertility

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Comments: ACHONDROPLASIA is an autosomal dominant condition and one of the commonest forms of inherited dwarfism. Epiphyseal dysplasia - thin zone of cartilage cells, diminished columnar arrangement short thick bones, spinal length almost always normal. Features - short limbs, normal trunk, large head, saddle nose, exagerrated lumbar lordosis normal mental and sexual development, spinal problems. Homozygotes - neonatal death (Harrisons) Which of the following is a glycoprotein hormone? Available marks are shown in brackets 1) Growth hormone releasing hormone 2) Cortisol 3) Thyrotropin releasing hormone (TRH) 4) Thyrotropin (TSH) 5) Oxytocin

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Comments: Thyrotropin is glycosylated, cortisol is a steroid hormone and the others are peptide hormones/neuropeptides which as a group are rarely glycosylated. Which of the following is associated with hypernatraemia. Available marks are shown in brackets 1) Cholera 2) Pyloric stenosis 3) Inappropriate ADH secretion 4) Diabetes insipidus 5) Diabetes mellitus

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Endocrinology 10

Comments: Cholera results in excessive water and sodium losses and hence hyponatraemia. Pyloric stenosis typically results in hypokalaemic, hypochloraemic, metabolic alkalosis and not cause hypernatraemia. Inappropriate ADH secretion causes hyponatraemia. In Diabetes insipidus failure to concentrate urine results in hypernatraemic dehydration with hyperosmolarity. Poorly controlled diabetes results in osmotic diuresis and renal sodium loss. A 12 year old child presents with pelvic pain and bowing of the tibia. A diagnosis of osteomalacia is suspected. Which one of the following statements is true regarding osteomalacia? Available marks are shown in brackets 1 ) Bone biopsy would show an increase in mineralised osteoid 2 ) Is due to vitamin A deficiency 3 ) May present with pseudo-fractures 4 ) Serum calcium is increased 5 ) Typically causes a distal myopathy

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Comments: Osteomalacia is due to vitamin D deficiency. It can result from malabsorption, renal disease (familial hypophosphataemic rickets), chronic renal failure and anticonvulsant therapy. It often presents with bone pain and a proximal myopathy. The psuedo-fractures in the hip are termed Loosers zones. Serum calcium is low. A bone biopsy would show an decrease in the amount of mineralised osteoid. Which one of the following statements is true concerning congenital hypothyroidism: Available marks are shown in brackets 1 ) Bone age is usually normal. 2 ) Has an incidence of 1 in 15,000 3 ) Is a cause of bilateral inguinal herniae 4 ) Requires children to be placed in special schooling 5 ) Is best monitored by regular assessment of height velocity Comments: Congenital hypothyroidism is associated with delayed bone age. The incidence is one in 4000. The condition is associated with umbilical herniae and not inguinal herniae. Intellectual function and cognitive development may be impaired if the condition remains untreated or in cases of severe cretinism, which is rare. The rate of linear growth is retarded in this condition and is always less than weight gain. Which of the following is a feature of pseudohypoparathyroidism? Available marks are shown in brackets 1 ) Increased urinary phosphate and cAMP with PTH infusion 2 ) Low serum PTH

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Endocrinology 11

3) 4) 5)

Low serum calcium and low serum phosphate Low serum calcium and high serum phosphate Shortened 2nd and 3rd metacarpals

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Comments: The biochemistry shows a hypocalcaemia with hyperphosphataemia being usual but elevated PTH due to resistance to parathormone (PTH). This is due to mutation of the PTH receptor with abnormality of the Gsalpha subunit with reduced cAMP production following a PTH infusion. There are associated phenotypic signs including short stature, low IQ and shortened 4th and 5th metacarpals.

A 16 year old female with Addisons disease is intolerant of her hydrocortisone treatment which she takes at a dose of 20mg in the morning and 10mg in the evening. Which of the following doses of prednisolone would provide an equivalent daily dose as her hydrocortisone? Available marks are shown in brackets 1 ) 5mg 2 ) 7.5mg 3 ) 10mg 4 ) 12.5mg 5 ) 15mg Comments: The equivalent ratio of prednisolone to hydrocortisone is 1:4. For Dexamethasone to hydrocortisone the ratio is roughly 1:40. An 18 year old woman is noted to have persistent polyuria in excess of 4 litres per day whilst recovering from a head injury she sustained in a road traffic accident. Investigations reveal: potassium 4.1 mmol/L (3.5-4.9) calcium 2.4 mmol/L (2.2-2.6) glucose 5.6 mmol/L (3.0-6.0) Which one of the following is the most effective method of confirming the diagnosis? Available marks are shown in brackets 1) autoantibodies to vasopressin neurones 2) MRI of the hypothalamus and pituitary 3) therapeutic trial of low dose DDAVP 4) vasopressin concentration 5) water deprivation test

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Comments: The history and confirmed polyuria are suspicious of diabetes insipidus which is not uncommon after head injury. This can be confirmed with a water deprivation test where failure of urine concentration would be expected. A MRI of the pituitary and hypothalamus may show

Endocrinology 12

no abnormality but would be undertaken after the diagnosis of DI is confirmed. Similarly anterior hormone assessment would also be undertaken after the diagnosis is confirmed. A therapeutic trial of DDAVP is only appropriate if the diagnosis of DI is confirmed as primary polydipsia can also be a feature of trauma and in these circumstances DDAVP may precipitate hyponatraemia. Autoantibodies to ADH neurones are irrelevant.

A 17 year female presents with tingling and muscle cramps. There is no other past medical history of note. Investigations reveal Creatinine 68 micromol/L (50-100) calcium 1.76 mmol/L (2.2-2.6) albumin 38 g/L (37-49) Which one of the following investigations is most likely to confirm the diagnosis? Available marks are shown in brackets 1) Alkaline phosphatase concentration 2) CT brain scanning 3) PTH concentration 4) Urine calcium concentration 5) Vitamin D concentration

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Comments: This patient has low calcium which could be due to either Vitamin D deficiency or hypoparathyroidism. The most likely cause in a young patient who has otherwise been quite well with normal renal function would therefore be hypoparathyroidism. Urine calcium concentrations are useful in familial hypercalciuric hypercalcaemia. A 18 year-old girl presents with anxiety and palpitations. Her mother had been treated for an overactive thyroid gland having received radioiodine and was now on Thyroxine replacement therapy. On examination she had a pulse of 104 bpm with a fine tremor and lid lag. There was no goitre palpable. Investigations revealed: serum free T4 33 pmol/L (10-20) plasma thyroid stimulating hormone (TSH) <0.05 (0.5-4.5) serum antithyroid peroxidase (anti TPO) titre 40 IU/L (<50) What is the most likely cause of her symptoms? Available marks are shown in brackets 1) factitious thyrotoxicosis

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Endocrinology 13

2) 3) 4) 5)

familial hyperthyroglobulinaemia Hashitoxicosis Graves disease Riedels thyroiditis

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Comments: Although the lead-in might make you think that this patient could gain access to thyroxine and so a diagnosis of factitious hyperthyroidism is possible, in practice this is extremely unlikely. A strong family history of thyrotoxicosis is typical for Graves' disease and the absence of a goitre with the absence of TPO antibodies (found in 80% of Graves cases) again is compatible with a diagnosis of Graves. A patient is receiving treatment with recombinant human growth hormone. Which of the following is a recognised side effect of GH therapy? Available marks are shown in brackets 1) Prostatic hypertrophy 2) Melanoma 3) Benign intra-cranial hypertension 4) Prolongation of the QT interval 5) Osteoporosis

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Comments: GH is rarely associated with BIH, the mechanism probably is related to fluid retention. The commonest side effect of GH therapy is fluid retention, though other side effects include gynaecomastia, hypertension and atrial fibrillation. BPH has not been reported. Which of the following statements apples to Diabetes in adolescence: Available marks are shown in brackets 1 ) Is usually associated with a decreased insulin requirement 2 ) Is associated with high levels of IGF-1 3 ) Causes a delayed menarche in girls. 4 ) If poorly controlled causes reversible retinopathy 5 ) Is compatible with holding a full driving licence Comments: Diabetes in adolescence is associated with insulin resistance and increased insulin requirement. IGF-1 levels are lower than in control subjects. Delayed menarche occurs only if there is significant undernutrition as a consequence of poor control or an eating disorder. The retinopathy is not often reversible. There is no contraindication to holding a licence if hypoglycaemia without warning and major visual complications do not develop.

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Endocrinology 14

Which of the following is commonly associated with congenital hypothyroidism in the neonatal period: Available marks are shown in brackets 1 ) hypothermia 2 ) Diarrhoea 3 ) Prolonged conjugated hyperbilirubinaemia 4 ) A small anterior fontanelle 5 ) Inguinal hernia

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Comments: Hypothermia results from reduced metabolic rate. Constipation rather than diarrhoea is a common clinical feature. Prolonged conjugated hyperbilirubinaemia is a relatively uncommon sequelae. The anterior fontanelle would be tense. Umbilical rather than inguinal herniae are associated. A 16 year old girl with obesity was referred with abdominal swelling and mild ankle oedema. On examination the blood pressure was 140/90 mmHg. Investigations revealed: Haemoglobin 10.5g/dL (11.5-16.5), Serum biochemistry normal, Serum albumin 34 g/L (37-49), Urine dipstick proteinuria + Which investigation should be performed next? Available marks are shown in brackets 1 ) 24 hour urinary protein estimation. 2 ) Abdominal ultrasound. 3 ) Plasma protein electrophoresis. 4 ) Urinary albumin: creatinine ratio. 5 ) Urinary B-human chorionic gonadotrophin test (B-HCG)

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Comments: This young girl has been gaining weight, has abdominal swelling and ankle oedema. She is hypertensive and has a mild anaemia with proteinuria. These signs should ring a bell suggesting a concealed pregnancy with pre-eclampsia. The most relevant investigation would be a pregnancy test urinary B-HCG. An 18 month old boy investigated for failure to thrive and delayed development is found to have primary hypothyroidism. Which of the following statements applies to his condition. Available marks are shown in brackets He is unlikely to achieve normal intelligence despite immediate commencement 1) of appropriate treatment If his bone age was 3 months the onset of his hypothyroid state is most likely to 2) have occurred at 3 months of age

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Endocrinology 15

3 ) Growth hormone deficiency is likely also to be associated 4 ) Hashimotos disease is the most likely cause. 5 ) He is more prone to develop parathyroid insufficiency

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Comments: The diagnosis of congenital hypothyroidism has been delayed and hence thyroxine therapy will not restore mental function fully. The hypothyroidism is likely to have been present at birth. Growth hormone deficiency may be seen in association with secondary hypothyroidism if pituitary insufficiency exists, but not in primary hypothyroidism. The most likely aetiology is absent or ectopic thyroid. Hypoparathyroidism is unrelated. A 17 year old female attends clinic complaining of hirsuitism and oligomennorhoea. Which of the following would be most suggestive of a diagnosis of Polycystic Ovarian Syndrome? Available marks are shown in brackets 1 ) Increased androstenedione concentration 2 ) Increased insulin concetration 3 ) Increased Prolactin concetration 4 ) Increased FSH concetration 5 ) Increased Sex Hormone binding globulin (SHBG) concentration

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Comments: PCOs is associated with a raised LH:FSH ratio, with insulin resistance and hyperandrogenism as evidenced by raised androstenedione and slightly raised testosterone. Elevated prolactin concentrations although a feature of PCOs is not specific of the diagnosis and may suggest microprolactinoma. Although insulin resistance is a feature of PCOs, a raised insulin concentration is rather irrelevant and no one would measure this in clinical practice. It is often elevated in association with testosterone secreting tumours. Which of the following is associated with Congenital Adrenal Hyperplasia? Available marks are shown in brackets 1) Delayed puberty 2) Hypopigmentation 3) Hyporeninaemia 4) Persistent Wolffian duct 5) Premature epiphyseal closure Comments: Premature epiphyseal closure is a classical feature of CAH, and is secondary to high levels of sex steroids. Under, and over treatment of CAH patients puts patients at risk of short stature, over treatment because of the glucocorticoid induced inhibition of the growth axis. CAH is associated with precocious puberty caused by long term exposure to androgens,which activate the hypothalamic-pituitary-gonadalaxis. Similarly, CAH is associated with hyperpigmentation, and hyperreninaemia due to sodium loss and hypovolaemia. The Wolffian duct is never formed in CAH.

[0] [0] [0] [0] [100]

Endocrinology 16

Which of the following statements is correct concerning puberty: Available marks are shown in brackets 1 ) In girls the first sign is the appearance of pubic hair 2 ) In boys the first sign is enlargement of the testes 3 ) Precocious puberty is more common in boys Once the epiphyses of the long bones fuse with the metaphyses there is no 4) further growth in stature 5 ) In girls menarche coincides with the peak of the growth spurt Comments: The first sign of puberty in the female is breast development, termed thelarche. Enlargement of the testes of greater than 2.5cm in length or 4 mls in volume is a reliable indicator of puberty. Precocious puberty is approximately five times more common in femnales. Ossification centres appear in early life, and ultimately the epiphysis or growth plate will fuse with the shaft of the long bones and from then further growth will not occur. Most females have reached peak height velocity 1.3 years before menarche. A 17 year-old girl presents with vomiting and her investigations show: sodium 120 mmol/L (137 - 144) potassium 3.0 mmol/L (3.5-4.9) urea 2.2 mmol/L (2.5 - 7.5) urine sodium 2 mmol/L urine osmolality 700 mosmol/kg (350 - 1000) What is the most likely diagnosis? Available marks are shown in brackets 1 ) Addison's disease 2 ) bulimia nervosa 3 ) diuretic abuse 4 ) syndrome of inappropriate antidiuretic hormone secretion 5 ) water intoxication

[0] [100] [0] [0] [0]

[0] [100] [0] [0] [0]

Comments: This patient is likely to have Bulimia young girl with a likely low body mass contributing to the low urea, vomiting contributing to the hypokalaemia/hyponatraemia. Her urine sodium is appropriately low and due to a relative dehydration she has appropriately concentrated urine. This is not Addisons disease as urine sodium would be high with high urea and likely high potassium. Similarly it is not SIADH due to the low urine sodium. Diuretic abuse would cause high urine sodium. Water intoxication would produce a dilute urine. Which one of the following statements applies to congenital adrenal hyperplasia:

Endocrinology 17

Available marks are shown in brackets 1 ) It always presents shortly after birth 2 ) Boys more commonly present at an earlier age than girls 3 ) It is most frequently caused by 11 beta hydroxylase deficiency 4 ) It is commonly associated with genital pigmentation 5 ) Hypotension is invariably present.

[0] [0] [0] [100] [0]

Comments: Congenital adrenal hyperplasia may present in teenagers with oligo/amenorrhoea and hirsuitism without significant virilisation and is termed late onset CAH. Girls present earlier because of virilisation and ambiguous genitalia, boys may present with precocious puberty. It is most commonly caused by 21 hydroxylase deficiency and genital pigmentation is due to high circulating ACTH. 11 beta hydroxylase deficiency can cause virilisation with hypertension. A six year old is admitted unconscious. His breath smells of Acetone. Blood gas estimation is pH 7.05, pCO2 24mmhg, standard bicarbonate 12mmol/l, blood glucose 47mmol/l. Which of the following statements are correct? Available marks are shown in brackets 1 ) urea is likely to be low 2 ) He has a respiratory acidosis 3 ) He should be treated with subcutaneous insulin 4 ) He has a metabolic acidosis 5 ) He should be treated with 5% Dextrose.

[0] [0] [0] [100] [0]

Comments: As a result of osmotic diuresis and natriuresis mediated by glucose he will be dehydrated and sodium depleted. This will raise blood urea.PCO2 and serum bicarbonate are low and this is consistent with metabolic acidosis and respiratory compensation. In respiratory acidosis the PCO2 would be high and bicarbonate levels would be higher to effect a metabolic compensation. In view of the fact that he has diabetic ketoacidosis, treatment with insulin should be commenced. Volume replacement with 0.9% saline must be adequate, however overvigorous rehydration could precipitate cerebral oedema.

In the treatment of Congenital Adrenal Hyperplasia, which of the following statements is correct? Available marks are shown in brackets

Endocrinology 18

1 ) Hydrocortisone may be administered once daily 2 ) Preferred treatment in children is prednisone Efficacy of treatment is best monitored by 17-OH progesterone and 3) androstenedione levels 4 ) Renin activity levels are of no clinical use in treatment monitoring Hypotension, hyperkalaemia and hyperreninaemia suggest that the dose of 5) mineralocorticoid should be reduced Comments:

[0] [0] [100] [0] [0]

In the treatment of CAH the lowest dose of glucocorticoid that suppresses(not totally) Adrenal androgens, whilst maintaining normal growth and weight gain is the optimum dose of glucocorticoid replacement. Renin activity levels can be used to monitor adequacy of mineralocorticoid and sodium replacement. Hydrocortisone has a relatively short half-life and must therefore be administered twice daily, whilst the preferred mode of glucocorticoid replacement in children is hydrocortisone as it minimises growth suppression. Over treatment with mineralocorticoids leads to hypertension, suppressed plasma rennin activity and possibly growth retardation. Which one of the following statements is correct: Available marks are shown in brackets 1 ) Dyshormonogenesis is the commonest cause of congenital hypothyroidism In patients with short stature (height below the 3rd centile) one should always 2) screen for growth hormone efficiency 3 ) Congenital adrenal hyperplasia is a cause of ambiguous genitalia in the newborn 4 ) Children with diabetes mellitus always require treatment with insulin 5 ) Onset of puberty is usually earlier in boys than in girls

[0] [0] [100] [0] [0]

Comments: The commonest causes of congenital hypothyroidism are thyroid aplasia/hypoplasia or ectopic thyroid gland. Short stature may be the consequence of multiple factors and Growth hormone deficiency is identified in a minority of patients. Growth velocity, parental height, intercurrent illnesses and use of drugs such as steroids may be more relevant. In females with congenital adrenal hyperplasia, excessive adrenal androgens result in virilisation and ambiguous genitalia. The incidence of type 2 diabetes in children is rising, and children may be treated with weight loss/diet and or metformin. Also in the condition known as MODY (maturity onset diabetes of the young, autosomal dominant, defective insulin secretion) oral hypoglycaemics are used initially. The onset of puberty is delayed by approximately 2 years in males, when compared to females.

A 16 year old female presents with a six month history of excessive weight gain and weakness. On examination she had central obesity with abdominal striae, a blood pressure of 178/96 mmHg and proximal muscle weakness. Urinalysis showed glucose ++. What is the most appropriate initial investigation for this patient? Available marks are shown in brackets 1 ) 9am plasma cortisol concentration

[0]

Endocrinology 19

2) 3) 4) 5)

24 hour urinary free cortisol concentration ACTH concentration a 1mg overnight dexamethasone suppression test a short synacthen test

[100] [0] [0] [0]

Comments: This patient is likely to have Cushings syndrome. Its a difficult choice between overnight dexamethasone suppression test and the urine free cortisol estimation but on balance, the simplest test would be Urine free cortisol assessment. 9am cortisol and ACTH concentrations will not confirm the diagnosis. A short synacthen test is used to confirm hypoadrenalism. Leptin Available marks are shown in brackets 1 ) Is synthesised in the hypothalamus 2 ) Reduces Basal metabolic rate 3 ) Acts upon the adipocyte 4 ) Produces satiety 5 ) Plasma concentrations correlate directly with lean body mass.

[0] [0] [0] [100] [0]

Comments: Leptin is synthesised within the adipocyte and plasma concentrations are directly related to adipocyte (fat) mass. It acts on centres within the hypothalamus to produce satiety. Side effects of recombinant human growth hormone therapy include: Available marks are shown in brackets 1) Proliferative retinopathy 2) Aplastic anaemia 3) Leukaemia 4) Creutzfeldt-Jacob disease 5) Benign Intracranial hypertension

[0] [0] [0] [0] [100]

Comments: Unlike the old pituitary derived GH, rhGH is not associated with CJD as it is manufactured by recombinant techniques. rhGH therapy has been associated with BIH probably due to the fluid retention associated with GH therapy. A girl aged 5 years attending normal school presents to the outpatient clinic with bilateral enlargement of the breasts. Bone age is 5.8 years and height is on the 90th centile. There has been no vaginal bleeding: Which of the following is correct: Available marks are shown in brackets 1 ) The diagnosis is unlikely to be precocious puberty 2 ) It is desirable to check her karyotype in making a diagnosis

[100] [0]

Endocrinology 20

3) 4) 5)

Lateral skull X-ray should be requested Menarche will likely take place in 3 years She will need to be treated with Clomiphene

[0] [0] [0]

Comments: The diagnosis is unlikely to be precocious puberty as elevated gonadal steroid levels increase height velocity and the rate of skeletal maturation as well causing feminisation and breast development. The condition is more suggestive of premature thelarche. Karyotypic anomalies are not relevant. If central (LHRH dependent) precocious puberty is suspected then MRI would be of value rather than cranial ultrasound to identify hypothalamic lesions and other CNS lesions. However pelvic ultrasound showing normal uterine volume is the most sensitive discriminator between premature thelarche and true precocious puberty. Puberty and menarche should take place at the normally expected timing( 11-13y). LHRH agonists are used in the treatment of precocious puberty of all types and not clomiphene, an estrogen antagonist. A genotypic male (XY) infant is born with feminised external genitalia. The testes are retained within the abdomen and the internal reproductive tracts show a normal male phenotype. Which of the following abnormalities would account for this abnormal development? Available marks are shown in brackets 1) Complete androgen insensitivity 2) 5 alpha-reductase deficiency 3) 17alpha-hydroxylase deficiency 4) Sertoli-only syndrome 5) Testicular dysgenesis

[0] [100] [0] [0] [0]

Comments: The differentiation of the Wolffian ducts into normal male internal reproductive tract requires testosterone but not dihydrotestsosterone. However, the differentiation of the external genitalia into the male reproductive system does require DHT. Absence of 5 alpha reductase in the latter will result in feminisation. Untreated patients are phenotypically female often present at puberty with virilisation a consequence of testosterone surges. Treatment depends upon DHT therapy. Which of the following statements applies to congenital hypothyroidism. Available marks are shown in brackets 1 ) Cannot be diagnosed clinically before 3 months of age 2 ) May be associated with an ectopic thyroid gland 3 ) Thyroxine may be discontinued after a period of treatment. 4 ) Can present in the newborn period with haemolytic jaundice. 5 ) If undiagnosed causes short stature but with a normal bone age.

[0] [100] [0] [0] [0]

Endocrinology 21

Comments: Patients with congenital hypothyroidism may exhibit non-specific clinical features e.g. jaundice and poor feeding however macroglossia is a fairly specific clinical finding aiding diagnosis. The commonest causes of congenital hypothyroidism are an absent or ectopic gland. The need for thyroxine is life long. The hyperbilirubinaemia is conjugated and haemolytic jaundice would not occur. Short stature and delayed bone age occur. A 17 year-old female is referred following a visit to the dentist where marked erosion of her teeth was noted. She was entirely asymptomatic and her only medication was the oral contraceptive pill. On examination her blood pressure was 110/70 mmHg and her body mass 2 index was 21.5 kg/m (18 - 25). Investigations sodium potassium bicarbonate urea corrected calcium alkaline phosphatase 135 mmol/l 2.1 mmol/l 42 mmol/l 2.6 mmol/L 2.08 mmol/ 201 iu/l (50-110)

What is the most likely diagnosis? Available marks are shown in brackets 1) Bulimia nervosa 2) Conn's syndrome 3) Laxative abuse 4) Pregnancy 5) Primary hypoparathyroidism

[0] [0] [0] [0] [100]

Comments: This patient has tooth erosion associated with hypokalaemic metabolic alkalosis and hypocalcaemia. This suggests a diagnosis of hypoparathyroidism. Conn's is unlikely in this age group, is not associated with tooth erosion and hypertension would be expected. Bulimia like laxative abuse would be associated with hypokalaemia but the hypocalcaemia with raised alkaline phosphatase would not be expected. Early pregnancy would not fit this picture. Which one of the following statements is correct concerning hyperglycaemia (non-ketotic) in an established diabetic child : Available marks are shown in brackets 1 ) Is usually symptomatic 2 ) Requires additional insulin immediately 3 ) May be seen following an untreated hypoglycaemic convulsion 4 ) Is a cause of recurrent urinary tract infections 5 ) Should be treated by reducing the number of daily carbohydrate exchanges Comments:

[0] [0] [100] [0] [0]

Endocrinology 22

Non-ketotic hyperglycaemia is usually asymptomatic, or less frequently mild symptoms such as thirst and polyuria may develop. Additional stat doses of insulin may cause hypoglycaemia later> Untreated hypoglycaemia may result in delayed hyperglycaemia through the influence of counter-regulatory hormones e.g catecholamines and growth hormone, which will raise blood glucose. Recurrent urinary infections are not associated, however furuncles are. The condition should be treated according to the cause. For example if the hyperglycaemia is reactive and preceded by severe hypoglycaemia, insulin dosage may have to be reduced and carbohydrates increased. A 15-year-old girl complained of anxiety and excessive sweating. She was not taking any medication. Investigations showed: TSH concentration free T4 concentration total T4 concentration free T3 concentration total T3 concentration 0.9 mU/L (0.5-3.4) 16 pmol/L (10-18) 180 nmol/L (55-145) 8.2 pmol/L (3.5-10.5) 3.3 nmol/L (0.9-2.5)

These results are compatible with which one of the following diagnoses?

Available marks are shown in brackets 1 ) Factitious thyrotoxicosis 2 ) Familial dysalbuminaemic hyperthyroxinaemia 3 ) Pregnancy 4 ) Sick euthyroid syndrome 5 ) Thyrotoxicosis

[0] [0] [100] [0] [0]

Comments: The symptom complex is intentionally misleading. The patient has a normal TSH and normal free T3 and T4 concentrations, excluding thyrotoxicosis but elevated Total concentrations suggesting a rise in the binding globulins. This can occur in pregnancy. Sick euthyroidism would be typically associated with low thyroid hormone concentrations. A 17 year old female who is 16 weeks pregnant reports that her elder brother has vitamin D reisistant rickets. What is the most likely mode of inheritance of this condition? Available marks are shown in brackets

Endocrinology 23

1) 2) 3) 4) 5)

Autosomal dominant Autosomal dominant with incomplete penetrance Autosomal recessive X-linked dominant X-linked recessive

[0] [0] [0] [100] [0]

Comments: Vitamin D resistant rickets is inherited in an X-linked dominant manner. Therefore an affected female will transmit the disease to 50% of her sons and 50% of her daughters. An affected male will transmit the condition to all of his daughters but none of his sons. In this case as the mother is unaffected, therefore there is no risk of the condition being passed to her unborn child. A 13 year old girl is rushed into hospital, having become rapidly drowsy after running the 1500 metres in the school atheletics competition. She has been on insulin for diabetes for 3 years. Her latest HbA1C is 7.8%. On examination she responds to pain, and is pale and sweaty. Her temperature is 36.5C, RR 12/min and HR 80/min. There are no focal neurological findings. What is the most likely diagnosis? Available marks are shown in brackets 1) Child abuse 2) Hepatic failure 3) Hypoglycaemia 4) Diabetic ketoacidosis 5) Substance abuse Comments: The history suggests tight diabetic control, with neurological deterioration following exercise. Hypoglycaemic coma is most likely, and the sweatiness and pallor are suggestive. The BM stix in this case was 1.2 mmol/l and she recovered rapidly with IV 10% dextrose 5 ml/kg. A 17-year-old girl complains of feeling tired and lethargic for the last 6 months. She also has generalized abdominal discomfort and constipation. She denies depression but her performance at school has deteriorated this year. Examination shows a pale and thin young woman. Her blood pressure is 110/60 mmHg. Hb WBC Platelet ESR Na K Urea Creat Bicarbonate 13.4 g/l 9 4.8 x 10 9 290 x 10 37mm/hr 131mM (135-144) 2.7mM (3.4-4.5) 3.0mM (3-7) 90mM (50 - 100) 35mM (20-28)

[0] [0] [100] [0] [0]

Endocrinology 24

Alkaline phosphotase bilirubin AST Albumin CXR

90iu/l (50-110) 12 (0-17) 30 iu/l (5-40) 36g/l (33-44) normal

Which of the following is the most likely underlying diagnosis? Available marks are shown in brackets 1) Cushings syndrome 2) Conns syndrome 3) Addisons disease 4) Anorexia nervosa 5) Phaechromocytoma

[0] [0] [0] [100] [0]

Comments: This patient has anorexia nervosa with self-induced vomiting, which would explain the low Na, K and alkalosis. Addisons disease causes hyponatraemia and hyperkalaemic acidosis, whilst Cushings disease cause hypokalaemic alkalosis. The clinical presentation does not fit with the latter. Conn's syndrome (adrenal adenoma) is associated with hypertension and hypokalaemia.

A 12 year old girl presents with anxiety and weight loss. She is noted to have a fine tremor and a pulse of 100 beat per minute. Thyroid function tests confirm thyrotoxicosis. Which one of the following statements is true of thyrotoxicosis in children. Available marks are shown in brackets 1 ) Is more common in males 2 ) Is often associated with short stature 3 ) Is usually not due to an auto-immune process 4 ) Is treated in the first instance with anti-thyroid drugs such as Carbimazole 5 ) Is usually associated with a high TSH level

[0] [0] [0] [100] [0]

Comments: Thyrotoxicosis has a female preponderance in all age groups. Thyrotoxicosis in early life may cause delayed sexual maturation, although physical development is normal and skeletal growth may be accelerated. Thyrotoxicosis in this age group is mostly due to graves disease. Anti thyroid drugs, are used initially and relapses can be treated with drugs or surgery. Radioactive iodine is generally not administered. TSH is suppressed. Which of the following statements concerning Congenital adrenal hyperplasia due to 21 hydroxylase deficiency is correct: Available marks are shown in brackets 1 ) It causes testicular enlargement

[0]

Endocrinology 25

2) 3) 4) 5)

It results in delayed fusion of epiphyses There is increased aldosterone secretion It has an autosomal recessive inheritance It is more easily diagnosed in boys than girls

[0] [0] [100] [0]

Comments: The condition causes virilisation in the female (male secondary sexual characteristics e.g. clitoromegaly, ambiguous genitalia) and in males sexual development may be entirely normal or precocious puberty develops. Delayed epiphyseal fusion is not a feature. Aldosterone deficiency causes salt wasting in this condition. The disease has an autosomal recessive inheritance. The disease is far more easily diagnosed in females who develop abnormal genitalia, than males who may have no clinical signs.

Which one of the following is inherited in an autosomal dominant fashion: Available marks are shown in brackets 1) 2) 3) 4) 5) Neurofibromatosis Cystic fibrosis Prader-Willi syndrome Beta-Thalassaemia Downs syndrome [100] [0] [0] [0] [0]

Comments: Neurofibromatosis is a single gene autosomal dominant disorder. Beta Thalassaemia is recessively inherited. One copy of the abnormal gene is termed thalassaemia minorand if there are 2 copies of the abnormal gene the condition, which develops, is thalassaemia major. Prader Willi syndrome is a chromosomal disorder characterised by insatiable appetite, hyperglycaemia and short stature. Downs syndrome is a chromosomal disorder.

A child is diagnosed with congenital adrenal hyperplasia. Which of the following statements correctly applies to his condition. Available marks are shown in brackets 1) 2) 3) 4) 5) It has an X-linked inheritance There is over-production of cortisol Hypokalaemia occurs. Undescended testes is associated. If untreated he may be infertile later. [0] [0] [0] [0] [100]

Comments: Congenital Adrenal Hyperplasia has an autosomal recessive inheritance. Failure to synthesise cortisol by the adrenals leads to a feedback activation of ACTH production by the pituitary. Potassium retention occurs as a consequence of aldosterone deficiency. Undescended testes are not associated, however testicular adrenal rest tumours are associated. Undertreated patients may be infertile later due to the presence of high circulating androgens.

Endocrinology 26

A male has pectus excavatum. Which one of the following findings would point to a diagnosis of Marfans syndrome. Available marks are shown in brackets 1) 2) 3) 4) 5) Mental retardation Osteoporosis Short stature History of peripheral arterial occlusion Echocardiogram shows ascending aortic aneurysm [0] [0] [0] [0] [100]

Comments: Marfans syndrome is autosomal dominant and shares some features in common with homocystinuria (scoliosis, tall stature, lens subluxation), but mental retardation, osteoporosis and arterio/venous thrombosis are features of the latter condition.

A short dysmorphic 12 year old child presents to you. Which one of the following would lead you to suspect she may have Turners syndrome. Available marks are shown in brackets 1) 2) 3) 4) 5) Mental retardation Cyanotic heart disease Primary amenorrhoea Accelerated bone age Bilateral clinodactyly [0] [0] [100] [0] [0]

Comments: Mental retardation is not a feature. Bicuspid aortic valve and coarctation rather than cyanotic heart disease are associated. Primary amenorrhoea occurs due to gonadal dysgenesis. Bone age may be delayed. Clinodactyly is not a feature.

Endocrinology 27