Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with primary adrenal failure in early infancy or childhood. Impaired sexual development because of hypogonadotropic hypogonadism becomes apparent at the time of puberty. We report adult-onset adrenal hypoplasia congenita in a patient who presented with hypogonadism at 28 yr ...

CONTEXT Primary adrenal failure is a life-threatening condition that can be caused by a range of etiologies, including autoimmune, metabolic, and developmental disorders. The nuclear receptors DAX1 (NR0B1) and steroidogenic factor-1 (SF1/Ad4BP, NR5A1) play an important role in adrenal development and function, and mutations in these transcription factors have been found in patients with adrenal...

OBJECTIVE Mutations in the DAX-1 gene result in X-linked congenital adrenal hypoplasia. The classic clinical presentation is primary adrenal insufficiency in early life and hypogonadotropic hypogonadism at the time of expected puberty, but recent data have expanded the phenotypic spectrum of DAX-1 mutations. We report the occurrence of an ACTH-secreting adenoma in a patient with X-linked congen...

There have been two reports recently of adrenocortical insufficiency in infant siblings. Mitchell and Rhaney (1959) reported it in two brothers, the first dying at 53 days and showing hypoplasia of the adrenal glands as the only apparent cause of death. The brother was born three years later, and exhibited a similar clinical picture of vomiting, wasting and dehydration shortly after birth. Bioc...

LABORATORY DATA adrenal changes phaeochromocytoma adrenal cortex hormones adrenal insufficiency, adrenal hypoplasia aldosterone, high levels chromosomal assignment chromosome 11q localization chromosome 3p localization gene, structural-functional anomalies CCND1 (PRAD1) cyclin D1, gene chr.11q13 gene analysis-DNA analysis ST11 (PETS1), gene chr.3p25 VHL von Hippel-Lindau syndrome, gene chr.3p26...