congenital adrenal hyperplasia

noun

: 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

Note: 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

Examples of congenital adrenal hyperplasia in a Sentence

Recent Examples on the Web

Brown-King, who has since come out as nonbinary and uses gender-neutral pronouns, was born with congenital adrenal hyperplasia, or CAH, a rare condition in which the body produces high levels of androgens — hormones that influence masculine characteristics. —NBC News, 26 Oct. 2021

There is fierce disagreement among doctors and advocates over whether surgical delays should extend to those with congenital adrenal hyperplasia. —NBC News, 26 Oct. 2021

One fascinating example comes from the work of neuroscientist Melissa Hines, who studied girls with congenital adrenal hyperplasia, a condition in which intersex traits arise in XX females because of unusually high levels of androgens. —Grace Huckins, Scientific American, 1 Feb. 2021

Cystic fibrosis, hemophilia, thalassemia and congenital adrenal hyperplasia, which leads to an overproduction of male hormones, are some of the diseases which can now be predicted by NIPT, according to Lo. —Julie Zaugg, CNN, 13 Oct. 2019

This can also happen with other health conditions like Cushing’s syndrome or congenital adrenal hyperplasia, so doctors will try to rule out other health conditions before assuming excess androgen points to PCOS. —Mary Claire Lagroue, SELF, 12 Sep. 2019

Word History

First Known Use

1949, in the meaning defined above

Medical Definition

congenital adrenal hyperplasia

noun

: 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

Note: 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

—abbreviation CAH