Last reviewed: 22 Dec 2020
Last updated: 27 Aug 2019



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

Diagnostic investigations

1st investigations to order

  • chromosome analysis (karyotype)
  • serum electrolytes and glucose
  • pelvic ultrasound
More 1st investigations to order

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 gonadotrophin (hCG) stimulation test
  • Müllerian-inhibiting substance (MIS) or anti-Müllerian hormone (AMH)
  • urine steroid profile
More investigations to consider

Treatment algorithm


Consultant Paediatric Endocrinologist

Honorary Senior Lecturer

University of Southampton




JD is chair of the British Society for Paediatric Endocrinology and Diabetes and a medical advisor to the Child Growth Foundation. He has received a travel bursary from Novo Nordisk and grants from the European Society for Paediatric Endocrinology and the Child Growth Foundation.

Specialist Registrar in Paediatric Endocrinology

Department of Paediatrics

University Hospitals Southampton NHS Trust




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 topic. IAH declares that she has no competing interests.

Peer reviewersVIEW ALL

Professor of Pediatrics

Department of Pediatrics (Endocrinology)

Montefiore Medical Center

Albert Einstein College of Medicine

New York



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




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




PYF declares that she has no competing interests.

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