Congenital adrenal hyperplasia

Last reviewed: 28 Aug 2022

Last updated: 24 Aug 2021

Congenital adrenal hyperplasia (CAH) is suspected in females who are virilised at birth, who become virilised postnatally, or who have precocious puberty or premature 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 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
atypical genitalia
hyperpigmentation

More key diagnostic factors

Other diagnostic factors

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

Other diagnostic factors

Risk factors

genetic predisposition

More risk factors

Diagnostic investigations

1st investigations to order

serum 17-hydroxyprogesterone
rapid ACTH stimulation test
serum cortisol
serum 11-deoxycorticosterone
serum 11-deoxycortisol
17-hydroxypregnenolone
dehydroepiandrosterone
androstenedione
serum chemistry
genetic analysis
karyotype or fluorescence in-situ hybridisation (FISH) for X and Y chromosome detection

More 1st investigations to order

Investigations to consider

plasma renin activity
pelvic and adrenal ultrasound

More investigations to consider

Treatment algorithm

ACUTE

during surgery, febrile illness, or other stress

ONGOING

classical CAH form

non-classical form

Contributors

Authors

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.

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 Medical Director of the CARES Foundation and an author of several references cited in this topic.

Oksana Lekarev, DO

Assistant Professor of Pediatrics

Weill Cornell School of Medicine

New York

Disclosures

OL is on the Medical Advisory Board of the CARES Foundation.

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 topic.

Acknowledgements

The contributors would like to gratefully acknowledge Dr Jessica Kaltman and Dr Adnan Qamar, previous contributors to this topic. JK and AQ declare that they no competing interests.

Peer reviewers

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.

Differentials
- Addison's disease
- Polycystic ovarian syndrome
- Gender dysphoria
More Differentials
Guidelines
- Guidelines on paediatric urology
- Best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
More Guidelines
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Congenital adrenal hyperplasia

Summary

Definition

History and exam

Key diagnostic factors

Other diagnostic factors

Risk factors

Diagnostic investigations

1st investigations to order

Investigations to consider

Treatment algorithm

during surgery, febrile illness, or other stress

classical CAH form

non-classical form

Contributors

Authors

Mabel Yau, MD

Disclosures

Ahmed Khattab, MD

Disclosures

Saroj Nimkarn, MD

Disclosures

Karen Lin-Su, MD

Disclosures

Oksana Lekarev, DO

Disclosures

Maria I. New, MD

Disclosures

Acknowledgements

Peer reviewers

Lefke Karaviti, MD, PhD

Disclosures

Dianne Deplewski, MD

Disclosures

Differentials

Guidelines

Log in or subscribe to access all of BMJ Best Practice

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