Summary
Definition
History and exam
Key diagnostic factors
- genetic predisposition
- weight loss
- failure to thrive
- vomiting
- hypotension
- atypical genitalia
- hyperpigmentation
Other diagnostic factors
- poor feeding
- irregular menses
- infertility
- male-pattern baldness (females)
- short stature
- precocious puberty
- polycystic ovaries
- hirsutism
- severe cystic acne
Risk factors
- genetic predisposition
Diagnostic tests
1st tests 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 hybridization (FISH) for X and Y chromosome detection
Tests to consider
- plasma renin activity
- pelvic and adrenal ultrasound
Treatment algorithm
during surgery, febrile illness, or other stress
classical CAH form
nonclassical form
Contributors
Authors
Mabel Yau, MD
Assistant Professor of Pediatrics
Icahn School of Medicine at Mount Sinai School
New York
NY
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
NY
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
NY
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
NY
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
NY
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 have 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
TX
Disclosures
LK declares that she has no competing interests.
Dianne Deplewski, MD
Assistant Professor of Pediatrics
University of Chicago
Chicago
IL
Disclosures
DD declares that she has no competing interests.
Differentials
- Addison disease
- Polycystic ovarian syndrome
- Gender dysphoria
More DifferentialsGuidelines
- Best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
- Screening and management of the hyperandrogenic adolescent
More Guidelines
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