منابع مشابه
Classic congenital adrenal hyperplasia.
Congenital adrenal hyperplasia is attributed to inherited enzyme defects in the adrenal cortex. The classical form results in reduced production of cortisol and aldosterone, accompanied by an increase in production of adrenal cortical androgens. This causes virilisation in girls, adrenocortical failure and early puberty in both sexes. This article describes the genetics, clinical picture, diagn...
متن کاملCongenital Adrenal Hyperplasia Panel
Congenital adrenal hyperplasia (CAH) is an inherited disorder of steroidogenesis characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease. A classic form presents with prenatal onset of virilization caused by severe enzyme deficiency and is distinguished from a non-classic form with mild enzyme d...
متن کاملAdult congenital adrenal hyperplasia.
CONGENITAL adrenal hyperplasia is a rare disease of adults. Probably the oldest recorded case in the literature is of a 57-year-old woman (Logan and McMillan, 1964) who presented as an abdominal emergency. Most of the published reports and standard references are concerned with the biochemical data and there is little suggestion of a characteristic clinical picture. The following case is presen...
متن کاملCongenital Adrenal Hyperplasia Panel
Congenital adrenal hyperplasia (CAH) is an inherited disorder of steroidogenesis characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease. A classic form presents with prenatal onset of virilization caused by severe enzyme deficiency and is distinguished from a non-classic form with mild enzyme d...
متن کامل[Congenital adrenal hyperplasia].
Introduction: Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders, which are due to defects in single enzymes involved in adrenal steroidogenesis. The biochemical and clinical phenotype depends on the specific enzymatic defect. In 21hydroxylase and 11β-hydroxylase deficiency only adrenal steroidogenesis is affected, whereas a defect in 3β-hydroxysteroid dehyd...
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ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2020
ISSN: 1757-790X
DOI: 10.1136/bcr-2020-236504