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
Diagnostic investigations
1st investigations to order
- chromosome analysis (karyotype)
- serum electrolytes and glucose
- pelvic ultrasound
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
Treatment algorithm
Contributors
Authors
Consultant Paediatric Endocrinologist
Honorary Senior Lecturer
University of Southampton
Southampton
UK
Disclosures
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
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 topic. IAH declares that she has no competing interests.
Peer reviewers
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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