An official website of the United States government
NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
Feingold KR, Anawalt B, Blackman MR, et al., editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-.
Types of Congenital Adrenal Hyperplasia
| Condition Onset Abnormality | Genitalia Mineralocorticoid Effect | Gene Chromosomal Location Typical Features |
|---|---|---|
| Lipoid CAH Congenital StAR Protein | Female, with no sexual development Salt wasting | StAR 8p11.2 All steroid products low |
| Lipoid CAH Congenital P450scc | Female, with no sexual development Salt wasting | CYP11A 15q23-24 All steroid products low |
| 3β-HSD deficiency Congenital 3β-HSD | Females virilized, males hypovirilized Salt wasting | HSD3B2 1p13.1 Elevated DHEA, 17-pregnenolone, low androstenedione, testosterone, elevated K, low Na, CO2 |
| 17α-OH deficiency Congenital P450c17 | Males hypovirilized, Hyperkalemic low-renin hypertension | CYP17 CYP17 10q24.3 Decreased androgens and estrogen, elevated DOC, corticosterone |
| Classic 21-OH deficiency, salt wasting Congenital P450c21 | Females prenatally virilized, males unchanged Salt wasting occurs in ¾ of 21OHD patients | CYP21 6p21.3 Elevated 17-OHP, DHEA, and androstenedione, elevated K, low Na, CO2, low aldosterone, high plasma renin |
| Classic 21-OH deficiency, simple virilizing Congenital P450c21 | Females prenatally virilized, males unchanged No salt wasting | CYP21 6p21.3 Elevated 17-OHP, DHEA, and androstenedione, normal electrolytes |
| Non-classic 21-OH deficiency Postnatal P450c21 | All with normal genitalia at birth, hyperandrogenism postnatally No salt wasting | CYP21 6p21.3 Elevated 17-OHP, DHEA, and androstenedione on ACTH stimulation |
| 11β-OH deficiency Congenital P450c11B1 | Females virilized, males unchanged Low-renin hypertension | CYP11B1 8q24.3 Elevated DOC, 11-deoxycortisol (S); androgens, low K, elevated Na, CO2 |
| P450 Oxidoreductase deficiency (POR), Congenital P450 oxidoreductase | Males undervirilized, females unchanged Variable degree of mineralocorticoid deficiency | P450 Oxidoreductase gene (POR) 7q11.2 Combined and variable enzymatic defects of P450c21, P450c17 and P450aro Wide range of phenotypes: normal to genital ambiguity +/- skeletal abnormalities (Antley Bixler type) |
From: Congenital Adrenal Hyperplasia: Diagnosis and Emergency Treatment
This electronic version has been made freely available under a Creative Commons (CC-BY-NC-ND) license. A copy of the license can be viewed at http://creativecommons.org/licenses/by-nc-nd/2.0/.
Your browsing activity is empty.
Activity recording is turned off.
See more...
