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We report a case of a 14-year-old girl with primary amenorrhea and phenotypic as well as hormonal features of complete androgen insensitivity syndrome (CAIS), who tested positive for a novel missense androgen receptor gene mutation resulting in serine-to-isoleucine change at position 703 in exon 4 in the ligand-binding domain. The interesting features of this case include a persistence of Müllerian derivatives, Sertoli cell adenoma, Tanner III pubic hair, and a normal bone mineral density. These features are not typically described in CAIS. This novel mutation associated with a unique clinical presentation serves to significantly enrich the literature on this rare and fascinating disorder of androgen insensitivity syndrome.

Background: Endothelial dysfunction (ED) is a marker of vascular damage. Glycated hemoglobin (A1C) predicts vascular complications. The EndoPAT (peripheral arterial tonometry) device calculates the reactive hyperemic index (RHI), a measure of endothelial function. The greater the vasodilation, the higher the RHI. We hypothesized that children with poorly-controlled diabetes mellitus (DM) and non-diabetes mellitus (NDM) obese children have ED. Methods: A cross-sectional study using the EndoPAT device was performed on children with poorly-controlled DM and NDM children. ANOVA, t-test, Mann-Whitney U test, multiple linear regression and Spearman correlation were used. Results:Of 58 children that completed the study (aged 13.1 ± 3.42 years), 33 with type 1 diabetes (T1DM), 8 with type 2 diabetes (T2DM) and 17 were NDM obese children. Eighty-five percent were African-American, 60% were female and 79% entered puberty. The RHI of children with DM (1.42 ± 0.48) versus NDM obese group (1.40 ± 0.34) was not different (P = 0.86) regardless of the type of DM or body mass index. In the DM group, for every 1% increase in latest A1C, the RHI decreased by 0.097 (P = 0.01) after adjusting for age, gender, and type of DM. The RHI of DM patients with latest A1C of < 10% (1.70 ± 0.58) versus those with A1C ≥10% (1.21 ± 0.19) was statistically different (P = 0.02). In the total study population, males had significantly lower RHI (1.28 ± 0.36) when compared to females (1.51 ± 0.46), P = 0.04 but this difference disappeared when considering pubertal status and type of diabetes. Conclusions: Our data showed that patients with poorly-controlled DM as reflected by latest A1C of ≥ 10% had worse endothelial function as reflected by lower RHI score.

Background: Hürthle cell (HC) neoplasms are rare among pediatric thyroid cancers. HC adenomas (HCA) are typically benign and localized unilaterally without recurrence, and they are thus treated by hemithyroidectomy. HC carcinomas (HCC) can be bilateral and are more aggressive, necessitating total thyroidectomy. Diagnosis relies upon surgical histopathology demonstrating invasion for classification as HCC or lack of invasion in HCA, since fine needle aspiration fails to differentiate between the two. Methods: We report a case of a 14-year-old adolescent female with bilateral HCA. She had an initial left hemithyroidectomy for a large nodule measuring 2 × 1.5 × 1.2 cm³ in the left lobe, while smaller subcentimeter nodules remained under surveillance in the right. One year later, a nodule in the right lobe doubled in size, necessitating a right hemithyroidectomy which also revealed HCA. Conclusion: To our knowledge, this is the first reported case of bilateral HCA in pediatrics. It highlights the importance of close surveillance of persistent small nodules, even in patients with previously documented benign lesions such as HCA, which are typically thought to be unilateral and localized. Both HCA and HCC remain unpredictable in behavior, and treatment of HCA should be individualized.

Background Anemia following bariatric surgery is a known complication. To prevent nutrient deficiencies, adolescent patients require multivitamin supplementation following bariatric surgery. The purpose of this study was to investigate if routine multivitamin supplementation is sufficient to prevent anemia in adolescents undergoing bariatric surgery, particularly sleeve gastrectomy (SG), a procedure that may induce nutrient malabsorption. Methods We conducted a retrospective review of medical records of pediatric patients who underwent SG (34 patients) and laparoscopic adjustable gastric banding (LAGB) (141 patients) (1/2006–12/2013). We examined anemia marker levels (iron, ferritin, folate, B12, hemoglobin and hematocrit) at first visit, 3, 6, and 12 months post-surgery by repeated measures analysis adjusting for weight loss. Results Following SG, folate levels decreased 3 and 6 months post-surgery, however returned to baseline levels at 12 months. Furthermore, SG patients demonstrated lower folate levels compared to LAGB at 3 and 6 months. B12 levels decreased 6 months post-SG, however returned to baseline at 12 months. Following LAGB, B12 levels decreased 12 months post-surgery compared baseline. Ferritin levels decreased 3 months post-LAGB, however returned to baseline levels at 6 months. There were no changes within groups or differences between groups in iron, hemoglobin or hematocrit. Conclusions While anemia did not occur in any patients while on recommended routine supplementation, folate levels were significantly reduced following SG and were lower in SG compared to LAGB patients. Additional folate supplementation seemed to improve folate levels, which highlights the importance of ongoing surveillance by primary care providers and the need for additional folate supplementation following SG.

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.

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.