Last reviewed: November 2017
Last updated: November  2017

Summary

Definition

History and exam

Key diagnostic factors

  • ambiguous genitalia with no palpable gonads
  • ambiguous genitalia with one palpable gonad
  • ambiguous genitalia with bilaterally palpable gonads
  • penile length <2.5 cm in a phenotypic male
  • clitoris >1 cm in a phenotypic female
  • hypospadias and undescended testes or separation of scrotal sacs
  • urethral opening at base of phallus

Other diagnostic factors

  • hypotension and vomiting
  • dysmorphic facial features

Risk factors

  • family history

Diagnostic investigations

1st investigations to order

  • chromosome analysis (karyotype)
  • serum electrolytes and glucose
  • pelvic ultrasound
Full details

Investigations to consider

  • serum 17 hydroxyprogesterone
  • plasma renin activity
  • serum 11 deoxycortisol and 11 deoxycorticosterone
  • serum testosterone
  • serum dihydrotestosterone
  • serum LH and follicle-stimulating hormone (FSH)
  • adrenocorticotropic hormone (ACTH) stimulation test
  • human chorionic gonadotropin (hCG) stimulation test
  • Müllerian-inhibiting substance (MIS) or antiMüllerian hormone (AMH)
  • urine steroid profile
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Consultant Paediatric Endocrinologist

Honorary Senior Lecturer

University of Southampton

Southampton

UK

Disclosures

JD declares that he has no competing interests.

Specialist Registrar in Paediatric Endocrinology

Department of Paediatrics

University Hospitals Southampton NHS Trust

Southampton

UK

Disclosures

GW declares that she has no competing interests.

Dr Justin Davies and Dr Gemma Watts would like to gratefully acknowledge Dr Ingrid A. Holm, a previous contributor to this monograph. IAH declares that she has no competing interests.

Peer reviewers VIEW ALL

Professor of Pediatrics

Department of Pediatrics (Endocrinology)

Montefiore Medical Center

Albert Einstein College of Medicine

New York

NY

Disclosures

PS declares that he has no competing interests.

Professor of Pediatrics and Cell Biology

Vice-Chair of Academic Affairs in Pediatrics

Pediatric Endocrine Division

UMass Medical School

Worcester

MA

Disclosures

MML declares that she has no competing interests.

Associate Professor Pediatrics

Pediatric Endocrinology

University of WA

Medical Director of DSD Program

Seattle Children’s Hospital

Seattle

WA

Disclosures

PYF declares that she has no competing interests.

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