Last reviewed: 19 Sep 2021
Last updated: 24 Aug 2021

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 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 hybridization (FISH) for X and Y chromosome detection

Investigations to consider

  • plasma renin activity
  • pelvic and adrenal ultrasound

Treatment algorithm

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.

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