Congenital adrenal hyperplasia

Last reviewed: September 2018

Last updated: December 2017

Summary

CAH is suspected in females who are virilised at birth, who become virilised postnatally, or who have precocious puberty or adrenarche.

Males with virilisation in childhood and infants of either sex with a salt-wasting crisis in the first 4 weeks of life are likely to be affected with CAH.

The diagnosis is confirmed by biochemical findings, such as an unequivocally elevated serum concentration of 17-hydroxyprogesterone.

Serum concentrations of delta-androstenedione and progesterone are increased in males and females with 21-hydroxylase-deficient CAH.

Serum concentrations of testosterone and adrenal androgen precursors are increased in affected females and prepubertal males.

Definition

Congenital adrenal hyperplasia (CAH) is a family of inherited enzyme deficiencies that impair normal corticosteroid synthesis by the adrenal cortex. The most common enzyme deficiency is 21-hydroxylase deficiency, which accounts for over 90% of cases. CAH due to 21-hydroxylase deficiency can be classified as either classical (simple virilising or salt-wasting types) or non-classical.

Other rare enzyme deficiencies resulting in CAH include 17-alpha-hydroxylase deficiency, 11-beta-hydroxylase deficiency, and 3-beta hydroxysteroid dehydrogenase deficiency.

History and exam

Key diagnostic factors

genetic predisposition
weight loss
failure to thrive
vomiting
hypotension
ambiguous genitalia
hyperpigmentation

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Other diagnostic factors

poor feeding
irregular menses
infertility
male-pattern baldness (females)
short stature
precocious puberty
polycystic ovaries
hirsutism
severe cystic acne

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Risk factors

genetic predisposition

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Diagnostic investigations

1st investigations to order

serum 17-hydroxyprogesterone
serum 11-deoxycortisol
serum chemistry
microfilter paper radioimmunoassay for 17-hydroxyprogesterone
genetic analysis
rapid ACTH stimulation test
karyotype or fluorescence in-situ hybridisation (FISH) for X and Y chromosome detection

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Investigations to consider

plasma renin activity
pelvic and adrenal ultrasound

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Treatment algorithm

INITIAL

Contributors

Authors VIEW ALL 

Mabel Yau, MD

Assistant Professor of Pediatrics

Icahn School of Medicine at Mount Sinai School

New York

Disclosures

MY declares that she has no competing interests.

Ahmed Khattab, MD

Assistant Professor of Pediatrics

Icahn School of Medicine at Mount Sinai School

New York

Disclosures

AK declares that he has no competing interests.

Adnan Qamar, MBBS

Clinical Research Assistant/Observer

Department of Pediatrics - Adrenal Steroids Division

Icahn School of Medicine at Mount Sinai School

Mount Sinai School of Medicine

New York

Disclosures

AQ declares that he has no competing interests.

Saroj Nimkarn, MD

Assistant Professor of Pediatrics

Bumrungrad International Hospital

Bangkok

Thailand

Disclosures

SN declares that he has no competing interests.

Karen Lin-Su, MD

Associate Professor of Pediatrics

Weill Cornell School of Medicine

New York

Disclosures

KLS is an author of several references cited in this monograph.

Oksana Lekarev, DO

Assistant Professor of Pediatrics

Weill Cornell School of Medicine

New York

Disclosures

OL declares that she has no competing interests.

Maria I. New, MD

Professor of Pediatrics

Director of the Adrenal Steroid Disorders Program

Icahn School of Medicine at Mount Sinai School

New York

Disclosures

MIN is an author of several references cited in this monograph.

Acknowledgements

The contributors would like to gratefully acknowledge Dr Jessica Kaltman, a previous contributor to this monograph. JK declares that she has no competing interests.

Peer reviewers VIEW ALL 

Lefke Karaviti, MD, PhD

Associate Professor of Pediatrics

Texas Children's Hospital Clinical Care Center

Baylor College of Medicine

Houston

Disclosures

LK declares that she has no competing interests.

Dianne Deplewski, MD

Assistant Professor of Pediatrics

University of Chicago

Chicago

Disclosures

DD declares that she has no competing interests.

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