Histiocytosis Presenting as Bilateral Adrenal Masses: A Case Report.

Introduction: Adrenal masses are a rare diagnosis in children, with bilateral masses even less common. At present, appearance of the mass on imaging and histology can give important clues to the diagnosis; however, there is significant overlap in 10-30% of cases and it can be difficult to distinguish benign from malignant adrenal masses. As a result, the clinical presentation remains a large part of the diagnostic process, as well as thorough endocrinology evaluation to determine if the tumor is functional versus nonfunctional.

Description of a novel mutation causing hereditary hypophosphatemic rickets with hypercalciuria in two adolescent boys and response to recombinant human growth hormone.

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is an autosomal recessive disorder characterized by hypophosphatemia, rickets, hyperphosphaturia, elevated 1,25(OH)D, and hypercalciuria. Mutations in , the gene encoding the sodium-dependent cotransporter , have previously been described as a cause of HHRH. Here, we describe two male siblings with rickets and hypercalciuric nephrolithiasis born to unrelated parents, and their response to oral phosphate supplementation and growth hormone therapy.

Case Studies in Pediatric Endocrinology: An Interactive Learning Module.

Introduction: Pediatrics is an exciting field because it requires having a background in physiology that evolves as the patient ages. As a subspecialty, pediatric endocrinology encompasses a wide range of disease processes both acute and chronic. This module was created to provide a review of endocrine physiology, promote understanding of the biopsychosocial model of children diagnosed with an endocrine disorder, and utilize simulated case studies to become familiar with patient management.

Type 2 diabetes mellitus in children and adolescents.

Type 2 diabetes mellitus (T2DM) is a chronic progressive disease with high morbidity and mortality rates. Previously an adult onset disease, it is now being diagnosed more and more in childhood and adolescence. Lately, Asia has become the epicenter of this epidemic.

Hereditary vitamin D resistant rickets: identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy.

Objective: To study the vitamin D receptor (VDR) gene in a young girl with severe rickets and clinical features of hereditary vitamin D resistant rickets, including hypocalcemia, hypophosphatemia, partial alopecia, and elevated serum levels of 1,25-dihydroxyvitamin D.

Study Design: We amplified and sequenced DNA samples from blood from the patient, her mother, and the patient's two siblings. We also amplified and sequenced the VDR cDNA from RNA isolated from the patient's blood.

Obstructive sleep apnea in children.

Daina Dreimane, MD, discusses the epidemiology, pathophysiology, diagnosis, and surgical and medical treatment of obstructive sleep apnea in children.

Feasibility of a hospital-based, family-centered intervention to reduce weight gain in overweight children and adolescents.

Objective: To evaluate the effects of a hospital-based, family-centered lifestyle program (Kids N Fitness) on weight and health in overweight 7-17-year-old children.

Design: The Kids N Fitness program consisting of up to twelve 90-min sessions was conducted in an outpatient setting. The program comprised interactive nutrition and exercise sessions with behavior modification.

Improvement in risk factors for metabolic syndrome and insulin resistance in overweight youth who are treated with lifestyle intervention.

Objective: To evaluate the prevalence of risk factors that are associated with the metabolic syndrome and insulin resistance in overweight youth and to determine the effect of a short-term, family-centered, lifestyle intervention on various associated anthropometric and metabolic measures.

Methods: Overweight youth who were between 8 and 16 years of age participated in a 12-week, family-centered, lifestyle intervention program. Anthropometric and metabolic measures were assessed before the program in all participants (n = 109) and after the program in a subset of the participants (n = 43).

A retrospective study of growth hormone use in adolescents with cystic fibrosis.

Objectives: Studies of growth hormone (GH) effectiveness in prepubertal children with cystic fibrosis (CF) have been published previously. We present a retrospective study of GH treatment in adolescents with CF.

Study Design: We performed a retrospective evaluation of data from 25 pubertal adolescents (ages 13 years 4 months to 16 years 11 months, Tanner stage III or IV).