Despite significant pharmacological and technological advances in the treatment of type 1 diabete... more Despite significant pharmacological and technological advances in the treatment of type 1 diabetes, the majority of youth in the United States do not meet the American Diabetes Association’s recommended A1C goal. Understanding and managing glycemic variability is important in children and adolescents. Because A1C provides an incomplete picture of day-to-day glycemic fluctuations, continuous glucose monitoring (CGM)-derived metrics are a promising addition to address glycemic management challenges in youth with diabetes. In this article, we discuss how to develop practical strategies to optimize the use of CGM in the pediatric population, interpret the valuable data it provides, and develop personalized and actionable treatment goals.
CONCLUSIONS • Autoimmune polyglandular syndrome type 3 (APS3) comprises a wide spec t rum o f com... more CONCLUSIONS • Autoimmune polyglandular syndrome type 3 (APS3) comprises a wide spec t rum o f comb ina t ions o f autoimmune endocrine disorders other than adrenal insufficiency. It i n c l u d e s t h e a s s o c i a t i o n o f autoimmune thyroid disease (ATD) with type 1 diabetes (T1D), which is known as APS3 variant (APSA3v). Genes linked to joint susceptibility for APS3v have been reported in few cases. • We report a 10-year-old girl with Graves’ disease (GD) who developed T1D after six years of the diagnosis. • A 10-year-old girl was diagnosed with GD at 3-years of age. • Treated with Carbimazole but had frequent relapse when medication was stopped. • Her mother has T1D, and two of her aunts were diagnosed with ATD. • Summary of Follow up in Endocrine clinic after initial diagnosis:
Introduction: Parents of youth with T1D have poorer sleep due to T1D management and worries. Duri... more Introduction: Parents of youth with T1D have poorer sleep due to T1D management and worries. During the COVID-19 pandemic, managing T1D may be more demanding and new stressors and routines can impact sleep. We compared parental sleep pre-pandemic to the initial months of the pandemic. Methods: Parents (n=100, 98% mothers) of youth with T1D (M age = 6.7±1.6 yrs, M duration = 2.9±.5 yrs) who were in a behavioral RCT completed surveys at RCT completion and ≥ 6 months later in June/July 2020. They completed the Pittsburgh Sleep Quality Index (PSQI) adapted to include T1D-related sleep questions, and 2 sleep items from a COVID-19 survey. M A1c at RCT completion = 8.2±1.4. We compared pre-pandemic vs. 2020 data using χ2 and t tests. Results: Many parents (40%) reported moderate-extreme difficulty sleeping during the pandemic. From pre- to during the pandemic, PSQI Latency scores increased significantly and Duration and Daytime Dysfunction decreased. More parents had PSQI Global Scores above the clinical cut-off during the pandemic. See Table for details. Conclusions: Parents of children with T1D experienced increased sleep challenges during the COVID-19 pandemic, despite lower T1D-related disruption and daytime impairment. Nighttime T1D management may have been less disruptive as parents slept less. Parental sleep warrants clinical attention as it impacts psychosocial well-being and T1D management for families. Disclosure S. A. Carreon: None. M. E. Hilliard: None. I. Al-gadi: None. K. Rooney: None. C. H. Wang: None. C. Tully: None. J. N. Jones: None. K. A. Gallagher: None. M. Monaghan: None. R. Streisand: None. Funding National Institute of Diabetes and Digestive and Kidney Diseases (1R01DK102561)
Background: Parents of young children with type 1 diabetes (PYC-T1D) may be susceptible to poor s... more Background: Parents of young children with type 1 diabetes (PYC-T1D) may be susceptible to poor sleep due to the 24/7 demands of diabetes care and concerns about overnight hypoglycemia, yet sleep patterns of PYC-T1D shortly after T1D diagnosis have not been reported. We aimed to describe the sleep of PYC-T1D in the first 2 months post-diagnosis and explore any differences with continuous glucose monitor (CGM) use. Methods: Participants were 157 PYC-T1D (M child age=4.5±1.6 years, 90% mothers, 61% White/non-Hispanic) assessed at baseline (M duration=27±15 days) of a behavioral RCT. Parents self-reported about sleep (Pittsburgh Sleep Quality Index, PSQI), T1D-specific sleep disruptions, and children’s use of CGM (20%). We report descriptive statistics for the full sample and compared by CGM use (independent t-test, X2). Results: Most (80%) PYC-T1D had PSQI≥5 indicating clinically significant sleep disturbance (M=8.3±4.1). Mean sleep duration was 5.9±1.4 hours/night. Table 1 shows over...
Background: Monitoring of blood glucose, ketones and/or adjustment of the daily insulin dose is u... more Background: Monitoring of blood glucose, ketones and/or adjustment of the daily insulin dose is usually required with intercurrent illness in children with type 1 diabetes (T1D). International Society for Pediatric and Adolescent Diabetes recommends sick day guidelines, including insulin adjustments, should be taught soon after diagnosis. At our center, caregivers of children with newly diagnosed T1D receive extensive inpatient education, including introduction to sick day management. However, there was no standardized education for calculation of extra insulin doses to treat ketosis, i.e. advanced ketone management. This resulted in increased calls for ketone management and potential readmissions to the hospital.Objectives: Through a quality improvement (QI) initiative, we aimed to (1) provide standardized education on advanced ketone management to 50% of patients with a new diagnosis of T1D, aged 5-18 years, at their initial outpatient visit within four weeks of diagnosis, and (2)...
Objective This study aimed to describe parents’ perceptions of the factors that facilitate or are... more Objective This study aimed to describe parents’ perceptions of the factors that facilitate or are barriers to their involvement in children’s type 1 diabetes (T1D) management among African American and Latino parents. Methods African American and Latino parents (N = 28) of 5- to 9-year-old children with T1D completed audio-recorded, semi-structured interviews that were transcribed and analyzed using thematic analysis. Themes were identified that aligned with the theoretically-derived Capability–Opportunity–Motivation–Behavior (COM-B) framework. Results Parents described Capability-based facilitators of parent involvement, including positive stress management, religious/spiritual coping, organizational/planning skills, and diabetes knowledge. Capability-based barriers included child and parent distress. Interpersonal relationships, degree of flexibility in work environments, and access to diabetes technologies were both Opportunity-based facilitators and barriers; and Opportunity-bas...
Abstract Background: Disorders of sex differentiation (DSDs) result from an atypical congenital d... more Abstract Background: Disorders of sex differentiation (DSDs) result from an atypical congenital development of chromosomal, gonadal, or anatomical sex. Mixed gonadal dysgenesis, a rare DSD, is the presence of both ovarian and testicular tissue. Early sex assignment is challenging due to the variable clinical, cytogenetic, and histopathological presentations. Clinical Case: A 1-day-old born from an uncomplicated pregnancy at 36+4/7 weeks gestation (birth weight 3.7 kg) was noted to have ambiguous genitalia. Upon examination, external genitalia was a bifid scrotum with palpable right scrotal and non-palpable left gonad; no hyperpigmentation. Phallus length was 2.5 cm and width was 1.3 cm with chordee (Prader Stage 3 hypospadias) and a single proximal urogenital sinus (anogenital ratio 1.3). Family history included a paternal uncle and two paternal cousins with ambiguous genitalia requiring surgy. The paternal uncle had two healthy daughters without fertility interventions. Also, three paternal aunts are significantly taller and infertile. Father has gynecomastia. No consanguinity. The initial investigation found normal electrolytes, LH 2.1 mIU/ml, and FSH 3.1 mIU/ml. Anti-Mullerian hormone (AMH, 20.47 ng/mL) and testosterone levels (42.6 ng/dL) were low for a male. High-resolution karyotype showed 46, XY with no mosaicism and a positive FISH SRY. Chromosomal microarray analysis was unremarkable for small deletions or duplications. A high-dose (150 mcg) ACTH stimulation test ruled out adrenal steroid biosynthesis defects. Renin and aldosterone were unremarkable. An hCG stimulation test showed appropriate rise in testosterone (443.1 ng/dL), androstenedione (112 ng/dL), and 5-alpha-dihydrotestosterone (1027.2 pg/mL). Ultrasound showed a single right testicle (~3 mL volume) within the hemiscrotum, a left inguinal hernia containing mesentery, and a left hemiuterus with no ovaries. A genitogram showed a urogenital sinus with a normal-appearing vaginal canal and elongated female urethra. No vesicoureteral reflux or other perineal orifices. The low AMH with an appropriate rise in testosterone following hCG stimulation and the presence of male and female reproductive organs in an undervirulized XY suggests mixed gonadal dysgenesis. Sex assignment was deferred by the medical team until further evaluation, but the parents chose to raise as a male based on their family history. Extended family studies are in process. Conclusion: The wide clinical and molecular variation in mixed gonadal dysgenesis constitutes a challenge for sex assignment. A multi-disciplinary team approach before sex assignment is crucial, including accurate assessment of external and internal genitalia, biochemical gonadal function, and cytogenetic testing. Among the multiple genetic variants known to cause mixed gonadal dysgenesis, highest on our differential is DMRT1.
Context Endocrine disorders are common in individuals with mitochondrial disease. To develop evid... more Context Endocrine disorders are common in individuals with mitochondrial disease. To develop evidence-based screening practices in this high-risk population, updated age-stratified estimates of the prevalence of endocrine conditions are needed. Objective To measure the point prevalence of selected endocrine disorders in individuals with mitochondrial disease. Design, Setting, and Patients The North American Mitochondrial Disease Consortium Patient Registry is a large, prospective, physician-curated cohort study of individuals with mitochondrial disease. Participants (n = 404) are of any age, with a diagnosis of primary mitochondrial disease confirmed by molecular genetic testing. Main Outcome Measures Age-specific prevalence of diabetes mellitus (DM), abnormal growth and sexual maturation (AGSM), hypoparathyroidism, and hypothyroidism. Results The majority of our sample was pediatric (<18 years; 60.1%), female (56.9%), and white (85.9%). DM affected 2% of participants aged <18...
Nowadays, Medical practice is largely based on the best available evidence. However, the evidence... more Nowadays, Medical practice is largely based on the best available evidence. However, the evidence may not always be readily available and clinician and/or other health allied professionals may need to learn how to search for it. This article gives highlights on the very vast and growing subject of evidence based medicine (EBM), followed by a practical application of searching for it in the real life, in a situation when the available evidence is limited.
Diabetes insipidus is a rare but serious endocrine disorder. Paediatric patients were evaluated f... more Diabetes insipidus is a rare but serious endocrine disorder. Paediatric patients were evaluated for polyuria at King Khalid University Hospital, Riyadh, Saudi Arabia, over a decade (2000-13). Relevant clinical examination and/or a triad of high serum osmolality, hypernatremia and low urine osmolality due to increased urine output confirmed the diagnosis. Water deprivation test was required in some cases with non-classic presentations. Appropriate brain imaging was performed whenever central diabetes insipidus (CDI) was suspected. Twenty-eight patients, 15 males (53.6%) and 13 females (46.4%), aged 0-17 years (mean: 6 years) were included. The calculated period prevalence was 7 in 10 000. In our cohort, 60.7% (17 of 28 patients) had CDI, 21.4% (6 of 28) were diagnosed with nephrogenic diabetes insipidus (NDI) and 17.9% (5 of 30) had psychogenic polydipsia. CDI was due to variable aetiology. Though CDI was the commonest, NDI was not a rare encounter in our community, possibly because ...
Accidents still represent a major cause of death and disability in children. The resultant trauma... more Accidents still represent a major cause of death and disability in children. The resultant traumatic brain injury (TBI) usually needs a multidisciplinary approach of management. Although computed tomographic (CT) head scan is generally a preferred investigation in TBI, however, clear guidelines are required to help decision making by different team members on "when a head CT scan is needed", its limitations, and "when it is likely to be informative". The answers to these queries are highlighted, in the present article, with other aspects of treatment of children with TBI. This article discusses different worldwide-accepted approaches for managing children with TBI, and places special emphasis on the issue of "indications for a head CT scan".
Despite significant pharmacological and technological advances in the treatment of type 1 diabete... more Despite significant pharmacological and technological advances in the treatment of type 1 diabetes, the majority of youth in the United States do not meet the American Diabetes Association’s recommended A1C goal. Understanding and managing glycemic variability is important in children and adolescents. Because A1C provides an incomplete picture of day-to-day glycemic fluctuations, continuous glucose monitoring (CGM)-derived metrics are a promising addition to address glycemic management challenges in youth with diabetes. In this article, we discuss how to develop practical strategies to optimize the use of CGM in the pediatric population, interpret the valuable data it provides, and develop personalized and actionable treatment goals.
CONCLUSIONS • Autoimmune polyglandular syndrome type 3 (APS3) comprises a wide spec t rum o f com... more CONCLUSIONS • Autoimmune polyglandular syndrome type 3 (APS3) comprises a wide spec t rum o f comb ina t ions o f autoimmune endocrine disorders other than adrenal insufficiency. It i n c l u d e s t h e a s s o c i a t i o n o f autoimmune thyroid disease (ATD) with type 1 diabetes (T1D), which is known as APS3 variant (APSA3v). Genes linked to joint susceptibility for APS3v have been reported in few cases. • We report a 10-year-old girl with Graves’ disease (GD) who developed T1D after six years of the diagnosis. • A 10-year-old girl was diagnosed with GD at 3-years of age. • Treated with Carbimazole but had frequent relapse when medication was stopped. • Her mother has T1D, and two of her aunts were diagnosed with ATD. • Summary of Follow up in Endocrine clinic after initial diagnosis:
Introduction: Parents of youth with T1D have poorer sleep due to T1D management and worries. Duri... more Introduction: Parents of youth with T1D have poorer sleep due to T1D management and worries. During the COVID-19 pandemic, managing T1D may be more demanding and new stressors and routines can impact sleep. We compared parental sleep pre-pandemic to the initial months of the pandemic. Methods: Parents (n=100, 98% mothers) of youth with T1D (M age = 6.7±1.6 yrs, M duration = 2.9±.5 yrs) who were in a behavioral RCT completed surveys at RCT completion and ≥ 6 months later in June/July 2020. They completed the Pittsburgh Sleep Quality Index (PSQI) adapted to include T1D-related sleep questions, and 2 sleep items from a COVID-19 survey. M A1c at RCT completion = 8.2±1.4. We compared pre-pandemic vs. 2020 data using χ2 and t tests. Results: Many parents (40%) reported moderate-extreme difficulty sleeping during the pandemic. From pre- to during the pandemic, PSQI Latency scores increased significantly and Duration and Daytime Dysfunction decreased. More parents had PSQI Global Scores above the clinical cut-off during the pandemic. See Table for details. Conclusions: Parents of children with T1D experienced increased sleep challenges during the COVID-19 pandemic, despite lower T1D-related disruption and daytime impairment. Nighttime T1D management may have been less disruptive as parents slept less. Parental sleep warrants clinical attention as it impacts psychosocial well-being and T1D management for families. Disclosure S. A. Carreon: None. M. E. Hilliard: None. I. Al-gadi: None. K. Rooney: None. C. H. Wang: None. C. Tully: None. J. N. Jones: None. K. A. Gallagher: None. M. Monaghan: None. R. Streisand: None. Funding National Institute of Diabetes and Digestive and Kidney Diseases (1R01DK102561)
Background: Parents of young children with type 1 diabetes (PYC-T1D) may be susceptible to poor s... more Background: Parents of young children with type 1 diabetes (PYC-T1D) may be susceptible to poor sleep due to the 24/7 demands of diabetes care and concerns about overnight hypoglycemia, yet sleep patterns of PYC-T1D shortly after T1D diagnosis have not been reported. We aimed to describe the sleep of PYC-T1D in the first 2 months post-diagnosis and explore any differences with continuous glucose monitor (CGM) use. Methods: Participants were 157 PYC-T1D (M child age=4.5±1.6 years, 90% mothers, 61% White/non-Hispanic) assessed at baseline (M duration=27±15 days) of a behavioral RCT. Parents self-reported about sleep (Pittsburgh Sleep Quality Index, PSQI), T1D-specific sleep disruptions, and children’s use of CGM (20%). We report descriptive statistics for the full sample and compared by CGM use (independent t-test, X2). Results: Most (80%) PYC-T1D had PSQI≥5 indicating clinically significant sleep disturbance (M=8.3±4.1). Mean sleep duration was 5.9±1.4 hours/night. Table 1 shows over...
Background: Monitoring of blood glucose, ketones and/or adjustment of the daily insulin dose is u... more Background: Monitoring of blood glucose, ketones and/or adjustment of the daily insulin dose is usually required with intercurrent illness in children with type 1 diabetes (T1D). International Society for Pediatric and Adolescent Diabetes recommends sick day guidelines, including insulin adjustments, should be taught soon after diagnosis. At our center, caregivers of children with newly diagnosed T1D receive extensive inpatient education, including introduction to sick day management. However, there was no standardized education for calculation of extra insulin doses to treat ketosis, i.e. advanced ketone management. This resulted in increased calls for ketone management and potential readmissions to the hospital.Objectives: Through a quality improvement (QI) initiative, we aimed to (1) provide standardized education on advanced ketone management to 50% of patients with a new diagnosis of T1D, aged 5-18 years, at their initial outpatient visit within four weeks of diagnosis, and (2)...
Objective This study aimed to describe parents’ perceptions of the factors that facilitate or are... more Objective This study aimed to describe parents’ perceptions of the factors that facilitate or are barriers to their involvement in children’s type 1 diabetes (T1D) management among African American and Latino parents. Methods African American and Latino parents (N = 28) of 5- to 9-year-old children with T1D completed audio-recorded, semi-structured interviews that were transcribed and analyzed using thematic analysis. Themes were identified that aligned with the theoretically-derived Capability–Opportunity–Motivation–Behavior (COM-B) framework. Results Parents described Capability-based facilitators of parent involvement, including positive stress management, religious/spiritual coping, organizational/planning skills, and diabetes knowledge. Capability-based barriers included child and parent distress. Interpersonal relationships, degree of flexibility in work environments, and access to diabetes technologies were both Opportunity-based facilitators and barriers; and Opportunity-bas...
Abstract Background: Disorders of sex differentiation (DSDs) result from an atypical congenital d... more Abstract Background: Disorders of sex differentiation (DSDs) result from an atypical congenital development of chromosomal, gonadal, or anatomical sex. Mixed gonadal dysgenesis, a rare DSD, is the presence of both ovarian and testicular tissue. Early sex assignment is challenging due to the variable clinical, cytogenetic, and histopathological presentations. Clinical Case: A 1-day-old born from an uncomplicated pregnancy at 36+4/7 weeks gestation (birth weight 3.7 kg) was noted to have ambiguous genitalia. Upon examination, external genitalia was a bifid scrotum with palpable right scrotal and non-palpable left gonad; no hyperpigmentation. Phallus length was 2.5 cm and width was 1.3 cm with chordee (Prader Stage 3 hypospadias) and a single proximal urogenital sinus (anogenital ratio 1.3). Family history included a paternal uncle and two paternal cousins with ambiguous genitalia requiring surgy. The paternal uncle had two healthy daughters without fertility interventions. Also, three paternal aunts are significantly taller and infertile. Father has gynecomastia. No consanguinity. The initial investigation found normal electrolytes, LH 2.1 mIU/ml, and FSH 3.1 mIU/ml. Anti-Mullerian hormone (AMH, 20.47 ng/mL) and testosterone levels (42.6 ng/dL) were low for a male. High-resolution karyotype showed 46, XY with no mosaicism and a positive FISH SRY. Chromosomal microarray analysis was unremarkable for small deletions or duplications. A high-dose (150 mcg) ACTH stimulation test ruled out adrenal steroid biosynthesis defects. Renin and aldosterone were unremarkable. An hCG stimulation test showed appropriate rise in testosterone (443.1 ng/dL), androstenedione (112 ng/dL), and 5-alpha-dihydrotestosterone (1027.2 pg/mL). Ultrasound showed a single right testicle (~3 mL volume) within the hemiscrotum, a left inguinal hernia containing mesentery, and a left hemiuterus with no ovaries. A genitogram showed a urogenital sinus with a normal-appearing vaginal canal and elongated female urethra. No vesicoureteral reflux or other perineal orifices. The low AMH with an appropriate rise in testosterone following hCG stimulation and the presence of male and female reproductive organs in an undervirulized XY suggests mixed gonadal dysgenesis. Sex assignment was deferred by the medical team until further evaluation, but the parents chose to raise as a male based on their family history. Extended family studies are in process. Conclusion: The wide clinical and molecular variation in mixed gonadal dysgenesis constitutes a challenge for sex assignment. A multi-disciplinary team approach before sex assignment is crucial, including accurate assessment of external and internal genitalia, biochemical gonadal function, and cytogenetic testing. Among the multiple genetic variants known to cause mixed gonadal dysgenesis, highest on our differential is DMRT1.
Context Endocrine disorders are common in individuals with mitochondrial disease. To develop evid... more Context Endocrine disorders are common in individuals with mitochondrial disease. To develop evidence-based screening practices in this high-risk population, updated age-stratified estimates of the prevalence of endocrine conditions are needed. Objective To measure the point prevalence of selected endocrine disorders in individuals with mitochondrial disease. Design, Setting, and Patients The North American Mitochondrial Disease Consortium Patient Registry is a large, prospective, physician-curated cohort study of individuals with mitochondrial disease. Participants (n = 404) are of any age, with a diagnosis of primary mitochondrial disease confirmed by molecular genetic testing. Main Outcome Measures Age-specific prevalence of diabetes mellitus (DM), abnormal growth and sexual maturation (AGSM), hypoparathyroidism, and hypothyroidism. Results The majority of our sample was pediatric (<18 years; 60.1%), female (56.9%), and white (85.9%). DM affected 2% of participants aged <18...
Nowadays, Medical practice is largely based on the best available evidence. However, the evidence... more Nowadays, Medical practice is largely based on the best available evidence. However, the evidence may not always be readily available and clinician and/or other health allied professionals may need to learn how to search for it. This article gives highlights on the very vast and growing subject of evidence based medicine (EBM), followed by a practical application of searching for it in the real life, in a situation when the available evidence is limited.
Diabetes insipidus is a rare but serious endocrine disorder. Paediatric patients were evaluated f... more Diabetes insipidus is a rare but serious endocrine disorder. Paediatric patients were evaluated for polyuria at King Khalid University Hospital, Riyadh, Saudi Arabia, over a decade (2000-13). Relevant clinical examination and/or a triad of high serum osmolality, hypernatremia and low urine osmolality due to increased urine output confirmed the diagnosis. Water deprivation test was required in some cases with non-classic presentations. Appropriate brain imaging was performed whenever central diabetes insipidus (CDI) was suspected. Twenty-eight patients, 15 males (53.6%) and 13 females (46.4%), aged 0-17 years (mean: 6 years) were included. The calculated period prevalence was 7 in 10 000. In our cohort, 60.7% (17 of 28 patients) had CDI, 21.4% (6 of 28) were diagnosed with nephrogenic diabetes insipidus (NDI) and 17.9% (5 of 30) had psychogenic polydipsia. CDI was due to variable aetiology. Though CDI was the commonest, NDI was not a rare encounter in our community, possibly because ...
Accidents still represent a major cause of death and disability in children. The resultant trauma... more Accidents still represent a major cause of death and disability in children. The resultant traumatic brain injury (TBI) usually needs a multidisciplinary approach of management. Although computed tomographic (CT) head scan is generally a preferred investigation in TBI, however, clear guidelines are required to help decision making by different team members on "when a head CT scan is needed", its limitations, and "when it is likely to be informative". The answers to these queries are highlighted, in the present article, with other aspects of treatment of children with TBI. This article discusses different worldwide-accepted approaches for managing children with TBI, and places special emphasis on the issue of "indications for a head CT scan".
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