The child of uncertain sex: 17 years of experience
Article first published online: 21 DEC 2001
Journal of Paediatrics and Child Health
Volume 37, Issue 4, pages 348–351, August 2001
How to Cite
Al-Agha, A., Thomsett, M. and Batch, J. (2001), The child of uncertain sex: 17 years of experience. Journal of Paediatrics and Child Health, 37: 348–351. doi: 10.1046/j.1440-1754.2001.00669.x
- Issue published online: 21 DEC 2001
- Article first published online: 21 DEC 2001
- indeterminate sex;
- sexual differentiation
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.