congenital adrenal hyperplasia
- congenital adrenal hyperplasia
a family of autosomal
recessive genetic disorders causing decreased activity of any of the enzymes involved in the synthesis of
cortisol from
cholesterol. The most commonly affected enzymes are 21-hydroxylase and 11-hydroxylase, and each enzyme deficiency can itself be due to a variety of genetic mutations. The clinical manifestations depend on which enzyme is affected and the resultant deficiencies and build-up products produced. The most serious consequence is adrenal crisis and/or severe salt wasting due to lack of cortisol and/or aldosterone, which may prove fatal if undiagnosed. The condition is often easier to spot at birth in females, who may exhibit ambiguous genitalia due to high levels of
testosterone in utero. This is not seen in males, and suspicions of the condition are thus not raised. Adrenal hyperplasia occurs due to excessive stimulation of the glands by
ACTH (
adrenocorticotrophic hormone) in response to the resultant cortisol deficiency of these conditions.
Medical dictionary.
2011.
Look at other dictionaries:
congenital adrenal hyperplasia — congenital adrenal hyperplasia. См. врожденная гиперплазия надпочечников. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) … Молекулярная биология и генетика. Толковый словарь.
Congenital adrenal hyperplasia — CAH redirects here. For other meanings of CAH see CAH (disambiguation) Congenital adrenal hyperplasia Classification and external resources ICD 10 E25.0 ICD 9 … Wikipedia
congenital adrenal hyperplasia — ▪ pathology also called adrenogenital syndrome enlargement of the adrenal glands (adrenal gland) resulting primarily from excessive secretion of androgenic hormones by the adrenal cortex. Congenital adrenal hyperplasia mainly affects… … Universalium
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency — Classification and external resources Deficient 21 Hydroxylase can lead to accumulation of 17 Hydroxyprogesterone ICD … Wikipedia
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency — Classification and external resources OMIM 202010 eMedicine article/117012 11β Hydroxylase deficient con … Wikipedia
Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency — Classification and external resources OMIM 202110 DiseasesDB 1841 … Wikipedia
Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency — Classification and external resources Cortisol ICD 10 E … Wikipedia
congenital adrenal hyperplasia — a family of autosomal recessive genetic disorders causing decreased activity of any of the enzymes involved in the synthesis of cortisol from cholesterol. The most commonly affected enzymes are 21 hydroxylase and 11 hydroxylase, and each enzyme… … The new mediacal dictionary
congenital adrenal hyperplasia — (CAH) a group of inherited disorders in which deficiencies of enzymes that catalyze the biosynthesis of cortisol result in compensatory hypersecretion of corticotropin and subsequent adrenal hyperplasia as well as excessive androgen production.… … Medical dictionary
Lipoid congenital adrenal hyperplasia — is an uncommon form of CAH resulting from defects in the earliest stages of adrenal cortisol synthesis: the transport of cholesterol into the mitochondria of the cells of the adrenal cortex and the conversion to pregnenolone. Lipoid CAH causes… … Wikipedia
