Sheila Perez-Colon

Metformin Use in Children and Adolescents with Prediabetes

With the increasing incidence of childhood obesity, clinicians need to understand its comorbidities and their management. The American Diabetes Association recommends pediatricians screen high-risk overweight and obese children. Identifying and treating prediabetic children and adolescents can help to reduce the burden of type 2 diabetes. Lifestyle interventions are pivotal. Metformin is the only oral medication approved for diabetes treatment in children. It has been studied in clinical trials in nondiabetic children and has been shown to have beneficial effects on body weight. Effects on diabetes prevention have not been studied and long-term data are limited in the pediatric population.

Pubertal assessment: a national survey of attitudes, knowledge and practices of the US pediatric trainees

Abstract Background and objective Sex maturity rating (SMR), defines different levels of sexual maturity, based on the development of secondary sexual characteristics. Periodic assessment of pubertal maturation by physicians is crucial for timely identification of puberty-related disorders. With this pilot study, we aimed to assess the attitudes, knowledge and practices of pubertal assessment by current US pediatric trainees. Methods An anonymous online survey questionnaire was sent to categorical pediatric residents at different levels of training and pediatric chief residents across the US. Results We received responses from 2496 pediatric residents from all over the US. We found that 96% of trainees understand the importance of assessing SMR, 62% feel confident in assessing it and 55% feel comfortable assessing the need for an endocrinology referral. Only 33% of trainees performed external genital exams during all regular clinic visits while 26.9% never performed them during sick visits and 6% never assessed SMR during any of the patient visits. Higher levels of training and having completed an endocrinology rotation were associated with improvement in comfort level, practice and knowledge of trainees regarding pubertal assessment. Conclusion This study revealed that the current clinical practices of performing external genital exams and SMR among pediatric residents need improvement. Stronger reinforcement from continuity clinic preceptors and/or online and clinic based resources for SMR assessment for trainees may improve adherence to the recommended guidelines.

Genetic Disorders of Vitamin D Metabolism Case Series and Literature Review

Vitamin D deficiency is the most common cause of rickets around the world. Nutritional vitamin D deficiency is a common entity during childhood and adolescence. However, disorders of vitamin D metabolism can occasionally be encountered in the pediatric population and may present with similar clinical and biochemical features. High index of suspicion is needed to identify such disorders and prevent severe complications and longterm malformations. Rickets is defined as poor mineralization of the growth plate. Young children can develop rickets if their calcium or phosphate requirements are not met during periods of active growth. Based on the etiology, rickets has been classified as calciopenic (related to nutritional deprivation of vitamin D, defect in Vitamin D metabolism, decreased intake of calcium, or excessive loss of calcium in the urine) or phosphopenic (related to renal phosphate wasting due to primary renal tubular defects or generation of excessive amounts of phosphatonins, compounds that inhibit renal tubular reabsorption of phosphate). This article summarizes vitamin D physiology with emphasis on the intrinsic defects in vitamin D metabolism. Herein, we present the case of a Yemeni family with one of the genetic disorders of vitamin D metabolism, vitamin D–dependent rickets type 1A (VDDR1A). To our knowledge, this is the first Yemeni family reported in literature to have VDDR1A.

Screening for autoimmune thyroiditis and celiac disease in minority children with type 1 diabetes

Abstract Background: Hashimoto’s thyroiditis (HT) and celiac disease (CD) are commonly associated with type 1 diabetes (T1DM). There is no consensus on screening, however, the American Diabetes Association (ADA) and the International Society for Pediatric and Adolescent Diabetes (ISPAD) recommend testing for thyroid function (TFT), thyroid antibodies and anti-tissue transglutaminase antibodies (TTG) IgA soon after diagnosis. TFT should be repeated every 1–2 years while TTG IgA should be tested for within 2 and 5 years. We hypothesize that the rate of HT and CD in our T1DM children is lower, so screening may need to be revised to reflect their underlying risk. Methods: An Institutional Review Board (IRB)-approved retrospective chart review was conducted on children with T1DM in the past 10 years. Age, sex, race, A1C, TFT, thyroid and celiac antibodies were obtained. t-Tests, the Wilcoxon-Mann-Whitney test and stepwise regression were performed. Results: Of 222 children with T1DM, with a mean age of 15.8±5.53 years, followed for 6.1±4.0 years, 53% female, mean A1C 11.1±1.9% and 87% African American (AA). Three had Graves’ disease (1.3%), three had HT (1.3%) and 97% were euthyroid. TFT were assessed on average every 1.3 years and thyroid antibodies every 2.5 years. Positive thyroid antibody was found in 11%, negative in 57% and unknown in 32%. The positive antibody group had higher mean A1C and TSH. No biopsy confirmed cases of CD (0%) were found when screened every 2.3 years. Conclusions: The number of individuals who screened positive for hypothyroid HT and CD was lower than expected in our population. Further studies are needed to assess the optimal screening frequency for HT and CD in minority children with T1DM.

Improving paediatric residents’ knowledge and perspectives regarding the insulin pump using a novel educational workshop

Objectives As a pilot study, we aimed to investigate the knowledge and perceptions of categorical paediatric residents (RES) at our institution regarding insulin pumps (IPs) and the impact following a targeted workshop. Methods All RES at our institution in attendance at a routine noon conference participated in a workshop, completing an anonymous survey before and right after the intervention to evaluate knowledge, attitudes and self-reported comfort regarding IPs. The workshop consisted of a didactic lecture followed by an insulin pump (IP) device demonstration of three commonly available brands. Knowledge score (KS) was calculated for each RES based on the total correct responses. Attitudes were assessed via 5-point Likert scale. Frequencies, t-test and McNemar tests were used to analyse data. Results Thirty four completed surveys were analysed out of 49 RES (69.3%) who attended the workshop. Among them, there were 19 first-year, 8 second-year and 7 third-year residents. Following the intervention, KS increased significantly (p<0.001) with progression in residents’ attitudes. Overall, more RES reported being comfortable with handling the IP, including looking up and changing the settings (p<0.001). Conclusion There is scope for improvement in the knowledge and perceptions of RES regarding IPs. Educational interventions like ours are needed to familiarise our future physicians with IPs to allow hospitals to provide their systematic and safe inpatient use.

Visual Diagnosis: An 11-year-old Girl with Swollen Lips and Oral Bumps

1. Matthias Kochmann, MD* 2. Shipra Bansal, MBBS*† 3. Vatcharapan Umpaichitra, MD*† 4. Sheila Perez-Colon, MD*† 1. *Department of Pediatrics, SUNY Downstate Medical Center, Brooklyn, NY 2. †Division of Pediatric Endocrinology, SUNY Downstate Medical Center and Kings County Hospital Center, Brooklyn, NY An 11-year-old girl with a normal medical history is referred by her pediatrician to the pediatric endocrinology clinic due to progressive lip enlargement for the past 4 years, which led to being bullied at school. The upper and lower lips have been increasing in size symmetrically. The lip swelling is painless, persistent, and not associated with weather or food consumption. There is no history of trauma, voice change, or difficulty swallowing. She denies chest pain, palpitation, tremors, syncope, anxiety, tingling, or muscle spasms. She also denies headaches or sweating. There is no history of high blood pressure. She has regular bowel movements and denies abdominal pain or distention. There is no family history of similar symptoms or medical conditions. Her physical examination reveals a thin girl (height, 60 in \[153 cm\] \[64th percentile\]; weight, 75 lb \[34 kg\] \[17th percentile\]; BMI, 14.5 [4th percentile]; and arm span, 63 in [160 cm]) with normal vital signs. She has symmetrically enlarged lips (Fig 1). Her extremities are noticeable for long limbs and high-arched feet. She has hard, sessile, painless papules at the tip of the tongue (Fig 2). The thyroid gland is normal in size, and no nodules are palpable. No lymph nodes of the neck are appreciated. Figure 1. Lip swelling. Figure 2. Mucosal neuromas of the tongue (arrows). Blood work reveals an elevated calcitonin level of 31.2 pg/mL (9.1 pmol/L) (normal for age, <5 pg/mL [<1.5 pmol/L]). Thyroid function test results are normal, thyrotropin level is 1.27 mIU/L (reference range, 0.5-4.8 mIU/L), and free thyroxine level is 0.96 ng/dL (12.36 pmol/L) (reference range, 0.93-1.6 ng/dL [11.97-20.59 pmol/L]). Thyroid ultrasonography shows …

Williams Syndrome and 15q Duplication: Coincidence versus Association

Williams syndrome is a multisystem disorder caused by contiguous gene deletion in 7q11.23, commonly associated with distinctive facial features, supravalvular aortic stenosis, short stature, idiopathic hypercalcemia, developmental delay, joint laxity, and a friendly personality. The clinical features of 15q11q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delay, and behavioral problems. We report a rare case of a girl with genetically confirmed Williams syndrome and coexisting 15q duplication syndrome. The patient underwent treatment for central precocious puberty and later presented with primary amenorrhea. The karyotype revealed 47,XX,+mar. FISH analysis for the marker chromosome showed partial trisomy/tetrasomy for proximal chromosome 15q (15p13q13). FISH using an ELN-specific probe demonstrated a deletion in the Williams syndrome critical region in 7q11.23. To our knowledge, a coexistence of Williams syndrome and 15q duplication syndrome has not been reported in the literature. Our patient had early pubertal development, which has been described in some patients with Williams syndrome. However, years later after discontinuing gonadotropin-releasing hormone analogue treatment, she developed primary amenorrhea.

Pubertal assessment: targeted educational intervention for pediatric trainees

Abstract Background Timely and periodic pubertal assessment in children is vital to identify puberty related disorders. Pediatricians need to have working knowledge of puberty time and tempo. Pediatric residency is an important platform to acquire physical examination skills including pubertal assessment. Objective An educational intervention for teaching pubertal assessment was piloted on pediatric residents at our institution. Methods The intervention comprised of interactive lecture series, ID badge size Tanner stage cards and Tanner posters placed in residents’ continuity clinics. Pre-intervention, post-intervention and 3 months post-intervention surveys for participating trainees were administered to determine the effectiveness of the intervention. Attitudes, practices, knowledge scores, and barriers to Tanner staging conduct were analyzed. Results Forty-three residents participated in the intervention. Knowledge scores of PGY1 (5.95 ± 1.6 vs. 7.47 ± 1.4, p < 0.01) improved right after the intervention, as did self-reported clinical practices of all trainees 3 months post- intervention with regards to conducting external genital examination and performing pubertal assessment. Confidence levels of pediatric trainees in conducting pubertal assessment and comfort levels in assessing the need for endocrine referral based on abnormal Tanner staging improved after the intervention, although the effect was not statistically significant. Conclusion Our intervention is a worthwhile technique for teaching pubertal assessment to residents as it is simple to conduct, easily reproducible, provides baseline knowledge needed for recognition of normal pubertal development and puberty related conditions, and instills confidence in residents.

Comparison of A1C to Oral Glucose Tolerance Test for the Diagnosis of Prediabetes in Overweight and Obese Youth

IN BRIEF This study reports performance of A1C against the oral glucose tolerance test (OGTT) in predicting prediabetes among overweight and obese African-American and Caribbean children. A retrospective chart review was completed for 230 children. Receiver operating characteristic curves were generated to find the predictive performances of different tests against the OGTT. A1C alone is a poor discriminator of prediabetes in our study population, with low sensitivity (70%) and specificity (48.8%). BMI z score, A1C, and homeostatic model assessment of insulin resistance are significant predictors of prediabetes and, when taken together, provide better discrimination for prediabetes.

Presence of 21-Hydroxylase Antibodies in a Boy with X-Linked Adrenal Hypoplasia Congenita

Background: X-linked adrenal hypoplasia congenita is a rare cause of primary adrenal insufficiency (PAI) in children due to mutations in NR0B1/DAX1 (nuclear receptor subfamily 0, group B, member 1/dosage-sensitive sex reversal-adrenal hypoplasia congenita at the critical region of the X chromosome, gene 1). Another rare cause of PAI in children is autoimmune adrenal disease (AAD) which could be either isolated or as part of autoimmune polyglandular syndrome. Antibody to major auto-antigen, 21-hydroxylase, is highly specific for AAD. Methods: We report a now 19-month-old male with PAI due to NR0B1 gene mutation and positive adrenal antibodies. Initially, he presented at 15 days of life with isolated hypoaldosteronism which later unfolded into complete PAI. Data analysis was done via retrospective chart review. Results: Genetic analysis of the NR0B1 gene revealed a known hemizygous mutation in c.1069C>T; p.Gln357X. Simultaneously, he was noted to have positive 21-hydroxylase antibodies. Conclusion: According to our knowledge, this is the first case in the literature with NR0B1 mutation causing adrenal insufficiency with coexistent positive adrenal antibodies. In addition to his already compromised adrenal function due to NR0B1 mutation, he is now at risk for the development of associated autoimmune conditions requiring close follow-up.