21-hydroxylase-deficient nonclassic adrenal hyperplasia

Ricardo Azziz

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Inherited adrenal enzymatic deficiencies causing hyperandrogenic symptoms some time after birth are defined as nonclassical adrenal hyperplasia (NC-CAH). While 21-hydroxylase (21-OH) deficiency accounts for the vast majority of NC-CAH, deficiencies in 11/3-hydroxylase and 3/3-hydroxysteroid dehydrogenase may rarely result in the disorder. Endocrinologically evident 21-OH-deficient NC-CAH appears to affect between 1% and 10% of hyperandrogenic women. Clinically evident deficiencies of 21-OH result from mutations of the CYP21 gene. The Leu-281 mutation is present in approximately 60%, Ser-453 in 25%, and Pro-30 in 10% of NC-CAH patients. Androgenic symptoms in NC-CAH generally appear peripubertally, frequently coinciding with adrenarche. The clinical presentation, which is usually mild, cannot be used to distinguish 21-OH deficient NC-CAH patients from other hyperandrogenic patients. The hormonal profile is also nondiagnostic, with the exception of the basal follicular phase 17-hydroxyprogesterone (17-HP) level. In untreated patients a 17-HP level of S2 ng/mL (6.0 nmol/L) effectively rules out NC-CAH. Alternatively, 20% of hyperandrogenic patients demonstrating a 17-HP level of > ng/mL (>nmol/L) have NC-CAH. Endocrinologically, NC-CAH is diagnosed by a 17-HP level 30 to 60 minutes after the acute IV administration of ACTH-[1–24] exceeding 10 ng/mL (30.3 nmol/L), and more frequently, 15 ng/mL (45.4 nmol/L). In NC-CAH ovulatory function responds well to glucocorticoids and/or clomiphene citrate, although many patients with NC-CAH become pregnant without requiring treatment. Hirsute NC-CAH generally require the addition of anti-androgen therapy to their glucocorticoid therapy.

Original languageEnglish (US)
Pages (from-to)297-303
Number of pages7
JournalEndocrinologist
Volume5
Issue number4
DOIs
StatePublished - Jul 1995

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Steroid 21-Hydroxylase
Hyperplasia
17-alpha-Hydroxyprogesterone
Glucocorticoids
Adrenarche
3-Hydroxysteroid Dehydrogenases
Clomiphene
Mutation
Follicular Phase
Mixed Function Oxygenases
Adrenocorticotropic Hormone
Androgens

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism

Cite this

21-hydroxylase-deficient nonclassic adrenal hyperplasia. / Azziz, Ricardo.

In: Endocrinologist, Vol. 5, No. 4, 07.1995, p. 297-303.

Research output: Contribution to journalArticle

Azziz, Ricardo. / 21-hydroxylase-deficient nonclassic adrenal hyperplasia. In: Endocrinologist. 1995 ; Vol. 5, No. 4. pp. 297-303.
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