Congenital adrenal hypoplasia--an X-linked disease.
نویسندگان
چکیده
منابع مشابه
Familial X-linked adrenocortical hypoplasia association with androgenic precocity.
Four male cousins showed clinical and biochemical features of X-linked recessive congenital adrenocortical hypoplasia. In addition, they showed varying degrees of androgenic precocity. One was virilised at birth. Another showed advanced growth and skeletal maturation. The remaining two had genital measurements greater than normal for age and showed raised testosterone levels, although pituitary...
متن کاملX-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report
UNLABELLED INTRODUCTION X-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1) gene. Most affected children present with failure to thrive, salt wasting and hypoglycemic convulsions in the firs...
متن کاملInfantile Growth Hormone Deficiency and X- Linked Adrenal Hypoplasia Congenita.
CONTEXT X-linked adrenal hypoplasia congenita (AHC) is a rare but important cause of primary adrenal insufficiency and can be associated with significant morbidity and mortality. AHC is caused by mutations within the NROB1 gene that codes for the DAX-1 protein, an orphan nuclear receptor essential for the development of the hypothalamic-pituitary-adrenal axis. Affected individuals typically pre...
متن کاملCorticotroph adenoma of the pituitary in a patient with X-linked adrenal hypoplasia congenita due to a novel mutation of the DAX-1 gene.
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...
متن کاملA novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita
DAX1 (NR0B1) is an orphan nuclear receptor, which plays an important role in development and function of the adrenal glands and gonads. Mutations in DAX1 cause X-linked adrenal hypoplasia congenita (X-linked AHC), which is characterized by adrenal insufficiency (AI) and hypogonadotropic hypogonadism (HHG). Affected boys present with adrenal failure usually in childhood and, later in life, with ...
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عنوان ژورنال:
- Journal of medical genetics
دوره 7 1 شماره
صفحات -
تاریخ انتشار 1970