congenital adrenal hyperplasia

noun

Definition of congenital adrenal hyperplasia

  1. :  any of several disorders that are marked by an inadequate synthesis of cortisol and often aldosterone, are typically characterized by excessive production of androgens, virilization of female external genitalia, and hypertension, and include a severe form resulting in dangerously low levels of sodium and high levels of potassium in the blood shortly after birth Congenital adrenal hyperplasia is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome. —abbreviation CAH

1949

First Known Use of congenital adrenal hyperplasia

1949


Medical Dictionary

congenital adrenal hyperplasia

noun

Medical Definition of congenital adrenal hyperplasia

  1. :  any of several hereditary disorders that are marked by inadequate synthesis of cortisol and often aldosterone, are typically characterized by excessive production of androgens, virilization of female external genitalia, and hypertension, and include a severe form resulting in potentially fatal hyponatremia and hyperkalemia shortly after birth Congenital adrenal hyperplasia is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome. Girls with congenital adrenal hyperplasia may emerge from the womb looking like boys, with an enlarged clitoris and even a scrotal sac, although they have fully formed ovaries and uterus.—Natalie Angier, The New York Times, 3 May 1994—abbreviation CAH


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