Last reviewed: November 2017
Last updated: July  2016

Summary

Definition

History and exam

Key diagnostic factors

  • genetic predisposition
  • weight loss
  • failure to thrive
  • vomiting
  • hypotension
  • ambiguous 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
  • 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
Full details

Investigations to consider

  • plasma renin activity
  • pelvic and adrenal ultrasound
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Assistant Professor of Pediatrics

Icahn School of Medicine at Mount Sinai School

New York

NY

Disclosures

MY declares that she has no competing interests.

Assistant Professor of Pediatrics

Icahn School of Medicine at Mount Sinai School

New York

NY

Disclosures

AK declares that he has no competing interests.

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

NY

Disclosures

AQ declares that he has no competing interests.

Assistant Professor of Pediatrics

Bumrungrad International Hospital

Bangkok

Thailand

Disclosures

SN declares that he has no competing interests.

Associate Professor of Pediatrics

Weill Cornell School of Medicine

New York

NY

Disclosures

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

Assistant Professor of Pediatrics

Weill Cornell School of Medicine

New York

NY

Disclosures

OL declares that she has no competing interests.

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 monograph.

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

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.

Assistant Professor of Pediatrics

University of Chicago

Chicago

IL

Disclosures

DD declares that she has no competing interests.

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