21-hydroxylase deficiency history and symptoms

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Mehrian Jafarizade, M.D [2]

Overview

Symptoms of 21-hydroxylase deficiency range from severe to mild or asymptomatic forms, depending on the degree of 21-hydroxylase enzyme deficiency. There are three main clinical phenotypes: classic salt-wasting, classic non-salt-wasting (simple virilizing), and non-classic (late-onset). In classical type, main symptoms can be sever hypotension due to adrenal crisis, ambiguous genitalia in females, and no symptoms or larger phallus in males. In non-classic types, infants and male patients may have no symptoms and females may show virilization symptoms after puberty.

History and Symptoms

Symptoms of 21-hydroxylase deficiency range from mild to severe. Some asymptomatic forms have also been idetified. Variability of symptoms depends upon the degree of 21-hydroxylase enzyme deficiency. There are three main clinical phenotypes: classic salt-wasting, classic non-salt-wasting (virilization), and non-classic (late-onset):

21-OH deficiency type	Common symptoms			Less common symptoms
	Infancy	Female	Male	Female	Male
Classic type	In salt wasting type Vomiting Weight loss Dehydration in a baby’s first few weeks of life	Ambiguous genitalia Clitoral enlargement Labial fusion Deep voice Greater aggressive tendencies than unaffected healthy women Early puberty Adult short stature Male-typical sexual behavior in girls and cross-gender role behavior Decreased fertility due to hyperandrogenemia and anovulatory cycles (fertility rate depends the enzyme amount)	Normal appearing at birth(mostly) Hyperpigmentation of the scrotum Enlarged phallus Deep voice Muscle growth Early virilization at two to four years of age with (pubic hair, growth spurt, adult body odor)	Cognitive function disturbance such as IQ impairment Male-typical cognitive pattern (better performance on spatial tasks, worse performance on verbal tasks)	Testicular masses due to testicular adrenal rest tumors Infertility due to seminiferous tubule obstruction, gonadal dysfunction as a result of testicular adrenal rest tumors, these tumors caused by high level of ACTH
Non-classic type	No symptoms	Premature pubarche Advance bone age Medication resistant cystic acne Accelerated growth with tall stature as a child in pre-pubertal period Hirsutism Oligomenorrhea Acne Hirsutism, acne and menstrual irregularity in young women Early pubarche or sexual precocity in school age children Mild subfertility due to hyperandrogenemia and anovulatory cycles (fertility rate depends the enzyme amount)	No symptoms Premature pubarche. Advance bone age Medication resistant cystic acne Accelerated growth with tall stature as a child	Clitoromegaly Infertility Alopecia Primary amenorrhea	Acne Infertility