Background: Vitamin D deficiency is one of the major nutritional deficiencies and an important contributor to nutritional and growth failure in infants, especially in those with low socioeconomic status. Aim: The primary objective of this study was to determine the proportion of vitamin D deficiency in infants, and the secondary objective was to assess the correlation between infant and maternal vitamin D levels. Methods: This prospective, observational study was carried out at a tertiary care center, All India Institute of Medical Sciences in Rishikesh, Uttarakhand, India, in the Department of Pediatrics from January 2017 to December 2018. Children aged less than one year and their mothers were enrolled in the study. All the infants attending the Department of Pediatrics for well-child visits and sick-child visits were enrolled after obtaining written, informed consent. Infants with major congenital malformations and liver and kidney dysfunction were excluded. Serum vitamin D level of <20 ng/mL was defined as vitamin D deficiency. Results: A total of 200 infants and 200 mothers were enrolled in the study. Among the study infants, 80% were neonates, and 20% were infants beyond the neonatal period. The prevalence of vitamin D deficiency was 74% in infants and 85.5% in mothers. Nearly half of the infants and mothers had severe vitamin D deficiency. Logistic regression analysis showed a positive correlation between maternal and infant vitamin D levels (r=0.074, p<0.001) and also with neonatal age group and low socioeconomic status. Hyperphosphatemia and hypocalcemia were predominant biochemical manifestations. Conclusion: The prevalence of vitamin D deficiency among the study infants was 74%. Neonatal age group, lower socioeconomic status, and maternal vitamin D deficiency were major determinants of vitamin D deficiency in infants.

Familial male-limited precocious puberty (FMPP), also known as testotoxicosis, is a rare cause of precocious puberty in males. It is caused by a mutation in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene, resulting in the receptor being constitutively activated. This causes excessive production of testosterone, leading to precocious puberty in males. Generally, boys present with signs of puberty, such as pubic hair growth, acne, and increased height velocity around the age of 2-4 years old. Like any other cause of precocious puberty, the goal of treatment is to prevent virilization and also delay closure of the epiphyseal plates to maintain adult height potential. Treatment, therefore, is aimed at decreasing the effects of testosterone, as well as stopping the conversion of testosterone to estrogen. Little is known about the long-term effects of treatment because the disorder is so rare. However, studies using bicalutamide and anastrozole have been promising. In this report, we present a boy with FMPP with a novel mutation in the LHCGR gene, who has been responding well to therapy using both drugs.

Severe hypercalcemia in diabetic ketoacidosis (DKA) among children is rare and can be life-threatening. Its exact etiology is not clear and several mechanisms related to dehydration and metabolic acidosis have been proposed. Rigorous hydration with the correct fluid choice usually corrects the hypercalcemia in those without other underlying causes of hypercalcemia such as hyperparathyroidism. Specific medications to treat the hypercalcemia may be avoided. We present a 13-year-old girl with new type 1 onset diabetes mellitus in DKA with unusually severe and persistent hypercalcemia and severe hypernatremia that gradually responded to rigorous intravenous hydration with Plasmalyte A (Baxter International Inc., Deerfield, Illinois).

Objectives The development of continuous glucose monitoring (CGM) systems has allowed for identification of blood sugar variations and trends in real-time that is not feasible with conventional self-monitoring of blood glucose. However, there is inconsistent data to show that the use of CGM leads to better glycemic control as measured by Hemoglobin A1c (HbA1c) in pediatric patients with type 1 diabetes mellitus. Our study aimed to compare the average HbA1c level in the 1–2 years prior to starting a CGM to the average HbA1c level in the 1–2 years immediately following CGM initiation in a sample of 1–20 year olds with type 1 diabetes mellitus. Methods Participants were 90 youth (ages 1–20) followed for type 1 diabetes care at our institution who used a CGM for at least a 6 month time period. We performed a retrospective chart review to obtain up to four HbA1c values pre and post-CGM initiation each. We evaluated pre- and post-CGM initiation changes in mean HbA1c via dependent samples t-tests using IBM SPSS 24.0. Results The mean HbA1c was 8.7% pre-CGM and decreased to 8.27% 9–12 months after CGM initiation in the overall sample. A statistically significant decrease in HbA1c was seen in patients who used multiple daily injections (p=0.02), those with a pre-CGM HbA1c greater than 9% (p=0.01), and those with a diabetes duration of 5–10 years (p=0.02). Conclusion CGM use was associated with a decrease in HbA1c over time which was statistically significant in some subgroups.

Gigantism and acromegaly are most commonly caused by a growth hormone (GH)-secreting pituitary adenoma. Pediatric cases are diagnostically and therapeutically challenging due to their insidious nature. This article presents two adolescent females who were referred to the endocrinology clinic primarily for the evaluation of menstrual disorders rather than for concerns about GH excess. Patient one was a 16-year-old who presented with primary amenorrhea and tall stature, and patient two, a 15-year-old, presented with a history of irregular menstruation. Both patients were noted to have acromegalic features, and an extensive work-up confirmed GH-secreting pituitary adenomas. In addition, patient two had significant hyperprolactinemia. Transsphenoidal tumor resection was performed on both patients; patient one had a successful complete resection and achieved endocrine remission, while patient two underwent partial resection followed by a short clinical trial of pegvisomant without significant success. Improved clinical knowledge through case reports can assist with the early diagnosis and management of such rare pediatric conditions.

Objectives: The aims of this review are to describe the rates of diagnosis of true thyroid disease (and subsequent treatment) in children with an elevated TSH referred to pediatric endocrinology, risk factors associated with elevated TSH secondary to thyroid disease, and TSH threshold level associated with thyroid disease. Methods: To accomplish these aims, our team searched through four databases to curate 211 articles regarding TSH values in healthy children ages 1–18 years without an underlying risk for hypothyroidism. Results: Five studies met our criteria and were analyzed to create the conclusions about rates of hypothyroidism requiring treatment (6.3–59 %), risk factors to developing hypothyroidism (TSH>10 mIU/L, goiter, and anti-thyroid antibodies), and high-risk TSH value (9.6 mIU/L when averaged among four studies). Conclusions: The results are helpful in guiding practitioners about when to repeat TSH value before considering referral to endocrinology, when to refer, and when to anticipate the need of thyroid hormone replacement.