The child of uncertain sex: 17 years of experience

Al-Agha, A. E., Thomsett, M. J. and Batch, J. A. (2001) The child of uncertain sex: 17 years of experience. Journal of Paediatrics And Child Health, 37 4: 348-351. doi:10.1046/j.1440-1754.2001.00669.x

Author Al-Agha, A. E.
Thomsett, M. J.
Batch, J. A.
Title The child of uncertain sex: 17 years of experience
Journal name Journal of Paediatrics And Child Health   Check publisher's open access policy
ISSN 1034-4810
Publication date 2001-08-01
Sub-type Article (original research)
DOI 10.1046/j.1440-1754.2001.00669.x
Open Access Status Not yet assessed
Volume 37
Issue 4
Start page 348
End page 351
Total pages 4
Editor Dr J. M. Court
Place of publication Melbourne
Publisher Blackwell Science Asia
Language eng
Subject C1
321004 Endocrinology
730105 Endocrine organs and diseases (incl. diabetes)
Abstract Objective: To review the common clinical presentations, investigations and final diagnosis of children presenting with genital ambiguity. Methodology: Retrospective search of the Royal Children's Hospital, Brisbane, Australia, medical records and personal medical database of one of the authors (MJT) between 1982 and 1999. Results: Fifty-one children aged 0.1-;14 (mean 3.9) years were identified. Twenty-two cases had a 46XX karyotype, and commonly presented with an enlarged phallus (77.2%), urogenital sinus (63.6%) and labioscrotal fold(s) (40.9%). Congenital adrenal hyperplasia (CAH) was the most common final diagnosis (72.7%) . Twenty-nine cases of genital ambiguity had a 46XY karyotype and commonly presented with palpable gonad(s) (75.8%), undescended testes (51.7%), penoscrotal hypospadias (51.7%) and a small phallus (41.3%). Androgen insensitivity and gonadal dysgenesis were the commonest final diagnosis both occurring at a frequency of 17.2%. Conclusions: The results emphasize the importance of CAH as the most common diagnosis in 46XX cases presenting with ambiguous genitalia. Those with 46XY had a wider range of diagnoses. Despite thorough investigation, 23.5% had no definite final diagnosis made.
Keyword Indeterminate Sex
Sexual Differentiation.
Sexual Differentiation
Q-Index Code C1

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
School of Medicine Publications
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 14 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 22 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Wed, 15 Aug 2007, 01:37:26 EST