diabetes insipidus/비만증

Non-synonymous mutations affecting both alleles of PCSK1 (proprotein convertase 1/3) are associated with obesity and impaired prohormone processing. We report a proband who was compound heterozygous for a maternally inherited frameshift mutation and a paternally inherited 474kb deletion that

Insulin-dependent juvenile-onset diabetes may occur in the context of rare syndromic presentations suggesting monogenic inheritance rather than common multifactorial autoimmune type 1 diabetes. Here, we report the case of a Lebanese patient diagnosed with juvenile-onset insulin-dependent diabetes

I have described a 21-year-old man who had biopsy-proven hypothalamic sarcoidosis and polyphagia with a weight increase to 393 lb (178.6 kg) on a 5 ft 4 inch frame during a seven-year follow-up. This morbid obesity appears to be due to sarcoid invasion of the satiety center in the ventral medial

BACKGROUND Craniopharyngiomas are often associated with significant morbidity due to their location and treatment effects. Little is known of the effects of primary treatment regimen and diabetes insipidus (DI), a clinical surrogate of hypothalamic obesity, on health outcomes in adults with

We report on a female patient with a large suprasellar arachnoid cyst (3.5 x 2.5 cm) combined with right optic nerve hypoplasia. She developed growth hormone deficiency and hypothyroidism at the age of 8.5 years, adrenal insufficiency at the age of 11 years, diabetes insipidus and hypogonadotropic

Morbid obesity presents unique challenges in managing additional disease processes. A 16-year-old male with a history of central diabetes insipidus (DI) and hypothyroidism developed destructive lesions in both his right mandible and brain, which were not discovered until the patient presented for

A 5 year old girl presented with central diabetes insipidus and primary hypothyroidism. No clinical or radiological evidence of Langerhans cell histiocytosis (LCH) was present. Absent posterior pituitary bright spot was seen in magnetic resonance imaging of the brain. She subsequently developed

Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) is a rare and complex pediatric disorder. Children typically show ROHHAD after the first years of life with rapid weight gain and subsequently autonomic nervous system dysregulation (altered pain