Familial neonatal nonautoimmune hyperthyroidism due to a gain-of-function (D619G) thyrotropin-receptor mutation.

Objectives: Activating germline mutations of the thyroid-stimulating hormone receptor (TSHR) are responsible for a rare form of neonatal nonautoimmune hyperthyroidism (NAH). We report the first case of familial neonatal neonatal nonautoimmune associated with c.1856A>G (p.

Methimazole Induced Total Myeloid Aplasia with Delayed Recovery Despite Granulocyte Colony Stimulating Factor (G-CSF): Marrow Progenitor Recovery Kinetics.

An eighteen-year-old female with Graves thyrotoxicosis presented with methimazole-induced agranulocytosis and total myeloid aplasia. The bone marrow at presentation showed complete absence of myeloid precursors and striking plasmacytosis. 16 days later, myeloid precursors were still absent morphologically; however bone marrow flow cytometry and cell culture detected an improvement in myelogenesis, which was soon followed by clinical recovery of agranulocytosis.

Development and Validation of a Pediatric Endocrine Knowledge Assessment Questionnaire: Impact of ac Pediatric Endocrine Knowledge Assessment Questionnaire Intervention Study.

Objective: While there is general agreement that patient education is essential for compliance, no objective tools exist to assess knowledge in children and parents of children with endocrine disorders. We aimed to design and validate a Pediatric Endocrine Knowledge Assessment Questionnaire (PEKAQ) for congenital hypothyroidism, Hashimoto's thyroiditis, isolated growth hormone deficiency, Graves' disease, and congenital adrenal hyperplasia. We evaluated baseline knowledge of children and parents of children with these disorders and assessed impact of educational intervention.

Altered growth patterns of a mountain Ok population of Papua New Guinea over 25 years of change.

Context: The Mountain Ok (Mt Ok) people of Telefomin, who live at the interior of Papua New Guinea (PNG), were documented over 25 years ago to be one of the shortest populations on record, with average adult height below the fifth percentile (US). Serum Growth Hormone was detectable, Insulin-like Growth Factor-1 and serum indicators of protein nutritional status fell within the normal range, suggesting that these were not primary factors for their relative short stature.

Objective: Since the Telefolmin people have experienced recent socioeconomic changes, they were re-evaluated in 2008, to examine height, weight, and body mass index (BMI), for insight into relative contributions of environment and other factors that modulate stature in children and adults.

Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation.

Permanent neonatal diabetes mellitus is a rare disorder known to be caused by activating mutations in KCNJ11 or ABCC8, inactivating mutations in INS, or very rarely in GCK or insulin promotor factor-1 (IPF-1) genes. We report a patient with permanent neonatal diabetes mellitus and severe exocrine pancreatic insufficiency. Ultrasound examination revealed pancreatic agenesis with a suggestion of a small amount of tissue in the head of the pancreas.