Congenital adrenal hyperplasia

Congenital adrenal hyperplasia comprises inherited enzyme defects that impair adrenal steroid production. Reduced cortisol synthesis can increase adrenal stimulation and divert steroid precursors into androgen production.

Adrenal cortex: The outer region of the adrenal gland that produces steroid hormones. Its three zones make the steroids affected by these enzyme defects.
Newborn screening: Testing shortly after birth to identify conditions before symptoms become severe. Screening programs can detect classic 21-hydroxylase deficiency before a salt-wasting crisis.
Salt-wasting congenital adrenal hyperplasia: A severe form of congenital adrenal hyperplasia with inadequate aldosterone production and risk of dehydration and shock. Aldosterone deficiency makes neonatal salt loss an urgent presentation.
Primary adrenal insufficiency: Failure of the adrenal cortex to produce adequate steroid hormones, arising from inherited or acquired causes. Congenital adrenal hyperplasia is one inherited cause, but its precursor and androgen patterns are distinctive.
Hans Selye: A Hungarian-Canadian endocrinologist known for research on stress physiology and the adrenal response. His work helped establish the physiological framework for interpreting adrenal hormone responses.
Steroidogenesis: The cellular process by which cholesterol is converted into steroid hormones. Congenital adrenal hyperplasia disrupts specific steps in this pathway.
17-hydroxyprogesterone: A steroid precursor used as a key biochemical marker of 21-hydroxylase deficiency. Its elevated concentration supports diagnosis, though screening results need clinical interpretation.
Simple virilizing congenital adrenal hyperplasia: A form of 21-hydroxylase deficiency with androgen excess but without clinically significant salt wasting. It separates androgen effects from the salt-wasting presentation.
Addison's disease: An acquired or autoimmune destruction of the adrenal cortex that causes primary adrenal insufficiency. Unlike enzyme-block congenital adrenal hyperplasia, it generally reflects loss of adrenal tissue.
Lawson Wilkins: An American pediatric endocrinologist who helped establish pediatric endocrinology as a clinical specialty. His clinical work shaped early medical understanding and treatment of adrenal hyperplasia.

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