Papers by Dr.Aswathy Rahul
Open access journal of endocrinology, 2017
Background: Difficulty in reaching an aetiological diagnosis and management issues are more in XY... more Background: Difficulty in reaching an aetiological diagnosis and management issues are more in XY Disorders of Sex Development (DSD) than XX DSD. Clinical features are also similar between various aetiological types. Objective: To find out the aetiology, clinical profile and management dilemmas of transgender children having Y containing chromosomes. Materials and methods: A hospital based descriptive study was conducted in children with DSD from birth to 12 years of age who were attending pediatric and pediatric surgery outpatient and wards and endocrinology clinic of a tertiary care teaching hospital of south India for one year. Among them, those a Y containing chromosomes were analyzed for clinical features; investigated for arriving at a definitive diagnosis and management dilemmas were analyzed. Their gender identities were assessed. Results: Causes could be identified in 82.3% cases. 53% of cases were Androgen Insensitivity Syndrome (AIS). 71.5% of children are being reared as female. 48% of them are under irregular follow-up. Major reason being social stigma. Conclusion: Majority of cases of DSDs containing a Y containing chromosome is Androgen Insensitivity Syndrome. Majority of them being reared as females only. Those who are being reared as males will be either not having testis or dysgenetic testis or may have an abnormal looking male genitalia with or without hypospadias. Due to social stigma majority are under irregular follow up.
Indian Journal of Child Health
Ludwig’s angina is a rapidly progressive life-threatening disease, characterized by gangrenous ce... more Ludwig’s angina is a rapidly progressive life-threatening disease, characterized by gangrenous cellulitis and edema of the soft tissues of the neck and the floor of the mouth. The incidence is very rare in children and even rarer in neonates, with sparse case reports. Early diagnosis is crucial in anticipating airway compromise and early management. We are reporting a case history of an 11-day old neonate who presented with an excess cry of 1-day duration and suspected sepsis. Gradually, he developed stridor, and swelling was noted in the submental area, which got progressed to a state of airway compromise and multiorgan dysfunction over a few hours. Drainage of the submental area yielded 10 ml pus which grew methicillin-resistant Staphylococcus aureus later. The baby succumbed to death within 12 h of the onset of symptoms.
Open Access Journal of Endocrinology, 2017
Background: Difficulty in reaching an aetiological diagnosis and management issues are more in XY... more Background: Difficulty in reaching an aetiological diagnosis and management issues are more in XY Disorders of Sex Development (DSD) than XX DSD. Clinical features are also similar between various aetiological types. Objective: To find out the aetiology, clinical profile and management dilemmas of transgender children having Y containing chromosomes. Materials and methods: A hospital based descriptive study was conducted in children with DSD from birth to 12 years of age who were attending pediatric and pediatric surgery outpatient and wards and endocrinology clinic of a tertiary care teaching hospital of south India for one year. Among them, those a Y containing chromosomes were analyzed for clinical features; investigated for arriving at a definitive diagnosis and management dilemmas were analyzed. Their gender identities were assessed. Results: Causes could be identified in 82.3% cases. 53% of cases were Androgen Insensitivity Syndrome (AIS). 71.5% of children are being reared as female. 48% of them are under irregular follow-up. Major reason being social stigma. Conclusion: Majority of cases of DSDs containing a Y containing chromosome is Androgen Insensitivity Syndrome. Majority of them being reared as females only. Those who are being reared as males will be either not having testis or dysgenetic testis or may have an abnormal looking male genitalia with or without hypospadias. Due to social stigma majority are under irregular follow up.
Journal of Neonatology, Jan 11, 2024
Journal of Neonatology, Mar 19, 2024
Indian journal of child health, Jun 25, 2017
Background: Disorders of sex development (DSD) are an important cause of management dilemma for a... more Background: Disorders of sex development (DSD) are an important cause of management dilemma for a clinician, especially due to the difficulty in assigning a suitable sex to them. Not many studies are reported regarding their gender outcome. Objective: To find out the gender outcome of children with DSD. Materials and Methods: A hospital-based descriptive study was conducted in children with DSD from birth till 12 years of age who were attending pediatric outpatient department and ward and endocrinology clinic of a tertiary care teaching hospital of South India for 1 year. Children with DSD who were registered in endocrinology clinic over the preceding 10 years were called for review. Those came for review were also included. They were analyzed for their assigned gender at birth, etiological diagnosis, current gender role and phenotype, treatment and follow-up patterns. Reinvestigations were done in needed cases. Results: A total of 38 cases were analyzed in the study. Work up could be completed in 92.1% of children. 60.5% cases were diagnosed in infancy, and 18.42% (n=7) of cases were identified above 5 years. Among those who were not assigned any sex at birth, 50% became phenotypic male and 50% became phenotypic female. 25% of the patients, who were assigned male sex at birth, changed to female sex. 100% of 46 XX DSD are being reared as females but only 44.4% of 46 XY patient are being reared as males. Conclusion: Sex assignment in DSD, especially 46 XY DSD, is a great challenge. Sex assignment must be based on a definitive etiological diagnosis, its natural course, gender role, gender identity, external genital structure and reproductive outcome and with proper counseling of the parents. Strict follow-up is inevitable.
Indian journal of child health, Aug 31, 2022
Primary hemophagocytic lymphohistiocytosis (HLH) is a rare fulminant genetic disease with uncontr... more Primary hemophagocytic lymphohistiocytosis (HLH) is a rare fulminant genetic disease with uncontrolled immune activation and multiorgan involvement. It is quite rare in neonates but a high index of suspicion is needed as the condition will present like sepsis and is associated with high mortality. Persistent fever is a prominent clinical feature. Genetic diagnosis is essential as the condition is autosomal recessive in familial types. Here, we report four cases of HLH diagnosed in the newborn period. We got an uncommon homozygous genetic mutation in STXBP2 involving exon 19, which has been reported only in very few cases. HLH should be considered as a differential diagnosis in any sick neonate who presents with prolonged fever with an unusual clinical course.
Indian Journal of Child Health
Ludwig’s angina is a rapidly progressive life-threatening disease, characterized by gangrenous ce... more Ludwig’s angina is a rapidly progressive life-threatening disease, characterized by gangrenous cellulitis and edema of the soft tissues of the neck and the floor of the mouth. The incidence is very rare in children and even rarer in neonates, with sparse case reports. Early diagnosis is crucial in anticipating airway compromise and early management. We are reporting a case history of an 11-day old neonate who presented with an excess cry of 1-day duration and suspected sepsis. Gradually, he developed stridor, and swelling was noted in the submental area, which got progressed to a state of airway compromise and multiorgan dysfunction over a few hours. Drainage of the submental area yielded 10 ml pus which grew methicillin-resistant Staphylococcus aureus later. The baby succumbed to death within 12 h of the onset of symptoms.
Background: Disorders of sex development (DSD) are an important cause of management dilemma for a... more Background: Disorders of sex development (DSD) are an important cause of management dilemma for a clinician, especially due to the difficulty in assigning a suitable sex to them. Not many studies are reported regarding their gender outcome. Objective: To find out the gender outcome of children with DSD. Materials and Methods: A hospital-based descriptive study was conducted in children with DSD from birth till 12 years of age who were attending pediatric outpatient department and ward and endocrinology clinic of a tertiary care teaching hospital of South India for 1 year. Children with DSD who were registered in endocrinology clinic over the preceding 10 years were called for review. Those came for review were also included. They were analyzed for their assigned gender at birth, etiological diagnosis, current gender role and phenotype, treatment and follow-up patterns. Reinvestigations were done in needed cases. Results: A total of 38 cases were analyzed in the study. Work up could be completed in 92.1% of children. 60.5% cases were diagnosed in infancy, and 18.42% (n=7) of cases were identified above 5 years. Among those who were not assigned any sex at birth, 50% became phenotypic male and 50% became phenotypic female. 25% of the patients, who were assigned male sex at birth, changed to female sex. 100% of 46 XX DSD are being reared as females but only 44.4% of 46 XY patient are being reared as males. Conclusion: Sex assignment in DSD, especially 46 XY DSD, is a great challenge. Sex assignment must be based on a definitive etiological diagnosis, its natural course, gender role, gender identity, external genital structure and reproductive outcome and with proper counseling of the parents. Strict follow-up is inevitable.
The Lancet Global Health, 2021
Background Although therapeutic hypothermia reduces death or disability after neonatal encephalop... more Background Although therapeutic hypothermia reduces death or disability after neonatal encephalopathy in highincome countries, its safety and efficacy in low-income and middle-income countries is unclear. We aimed to examine whether therapeutic hypothermia alongside optimal supportive intensive care reduces death or moderate or severe disability after neonatal encephalopathy in south Asia. Methods We did a multicountry open-label, randomised controlled trial in seven tertiary neonatal intensive care units in India, Sri Lanka, and Bangladesh. We enrolled infants born at or after 36 weeks of gestation with moderate or severe neonatal encephalopathy and a need for continued resuscitation at 5 min of age or an Apgar score of less than 6 at 5 min of age (for babies born in a hospital), or both, or an absence of crying by 5 min of age (for babies born at home). Using a web-based randomisation system, we allocated infants into a group receiving whole body hypothermia (33•5°C) for 72 h using a servo-controlled cooling device, or to usual care (control group), within 6 h of birth. All recruiting sites had facilities for invasive ventilation, cardiovascular support, and access to 3 Tesla MRI scanners and spectroscopy. Masking of the intervention was not possible, but those involved in the magnetic resonance biomarker analysis and neurodevelopmental outcome assessments were masked to the allocation. The primary outcome was a combined endpoint of death or moderate or severe disability at 18-22 months, assessed by the Bayley Scales of Infant and Toddler Development (third edition) and a detailed neurological examination. Analysis was by intention to treat. This trial is registered with ClinicalTrials.gov, NCT02387385. Findings We screened 2296 infants between Aug 15, 2015, and Feb 15, 2019, of whom 576 infants were eligible for inclusion. After exclusions, we recruited 408 eligible infants and we assigned 202 to the hypothermia group and 206 to the control group. Primary outcome data were available for 195 (97%) of the 202 infants in the hypothermia group and 199 (97%) of the 206 control group infants. 98 (50%) infants in the hypothermia group and 94 (47%) infants in the control group died or had a moderate or severe disability (risk ratio 1•06; 95% CI 0•87-1•30; p=0•55). 84 infants (42%) in the hypothermia group and 63 (31%; p=0•022) infants in the control group died, of whom 72 (36%) and 49 (24%; p=0•0087) died during neonatal hospitalisation. Five serious adverse events were reported: three in the hypothermia group (one hospital readmission relating to pneumonia, one septic arthritis, and one suspected venous thrombosis), and two in the control group (one related to desaturations during MRI and other because of endotracheal tube displacement during transport for MRI). No adverse events were considered causally related to the study intervention. Interpretation Therapeutic hypothermia did not reduce the combined outcome of death or disability at 18 months after neonatal encephalopathy in low-income and middle-income countries, but significantly increased death alone. Therapeutic hypothermia should not be offered as treatment for neonatal encephalopathy in low-income and middleincome countries, even when tertiary neonatal intensive care facilities are available.
Indian Journal of Child Health, 2017
Background: Disorders of sex development (DSD) are an important cause of management dilemma for a... more Background: Disorders of sex development (DSD) are an important cause of management dilemma for a clinician, especially due to the difficulty in assigning a suitable sex to them. Not many studies are reported regarding their gender outcome. Objective: To find out the gender outcome of children with DSD. Materials and Methods: A hospital-based descriptive study was conducted in children with DSD from birth till 12 years of age who were attending pediatric outpatient department and ward and endocrinology clinic of a tertiary care teaching hospital of South India for 1 year. Children with DSD who were registered in endocrinology clinic over the preceding 10 years were called for review. Those came for review were also included. They were analyzed for their assigned gender at birth, etiological diagnosis, current gender role and phenotype, treatment and follow-up patterns. Reinvestigations were done in needed cases. Results: A total of 38 cases were analyzed in the study. Work up could be completed in 92.1% of children. 60.5% cases were diagnosed in infancy, and 18.42% (n=7) of cases were identified above 5 years. Among those who were not assigned any sex at birth, 50% became phenotypic male and 50% became phenotypic female. 25% of the patients, who were assigned male sex at birth, changed to female sex. 100% of 46 XX DSD are being reared as females but only 44.4% of 46 XY patient are being reared as males. Conclusion: Sex assignment in DSD, especially 46 XY DSD, is a great challenge. Sex assignment must be based on a definitive etiological diagnosis, its natural course, gender role, gender identity, external genital structure and reproductive outcome and with proper counseling of the parents. Strict follow-up is inevitable.
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Papers by Dr.Aswathy Rahul