Summary
Definition
History and exam
Key diagnostic factors
- atypical genitalia with no palpable gonads
- atypical genitalia with one palpable gonad
- atypical 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
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
Treatment algorithm
all neonates presenting with atypical genitalia
46,XX: congenital adrenal hyperplasia secondary to 21 hydroxylase deficiency (at presentation)
46,XY
46,XX: congenital adrenal hyperplasia secondary to 21 hydroxylase deficiency (following sex assignment)
46,XY
45,X/46,XY mixed gonadal dysgenesis
Contributors
Authors
Justin H Davies, MD, FRCPCH, MRCP
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.
Gemma Watts, BMS, MRCPCH
Specialist Registrar in Paediatric Endocrinology
Department of Paediatrics
University Hospitals Southampton NHS Trust
Southampton
UK
Disclosures
GW declares that she has no competing interests.
Acknowledgements
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
Paul Saenger, MD, MACE
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.
Mary M. Lee, MD
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.
Patricia Y. Fechner, MD
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.
Differentials
- Micropenis due to another cause
- Unilateral undescended testis (cryptorchidism)
More DifferentialsGuidelines
- UK guidance on the initial evaluation of a suspected difference or disorder of sex development (revised 2021)
- Guidelines on paediatric urology
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