Endocrine Abstracts

Introduction: Disorders of sexual differentiation (DSD) are uncommon and pose many challenges to families affected and clinicians. The genotypic 46XY male with female phenotype form an interesting group with diverse presentation. We studied all such children attending our multidisciplinary DSD clinic. Only in a minority of these children did newborn examination raise the possibility of DSD. Delays in identifying these abnormalities can cause significant psychological difficulties in both child and their family. Healthcare professionals performing neonatal checks need to be vigilant in the examination of babies` genitalia so that specialist input and assignment of sex can be performed promptly.

Materials and Methods: Case-notes drawn from a prospectively maintained database were reviewed and data gathered on age at presentation, family history, findings on genital examination, underlying diagnosis.

Results: Eleven children were studied, all raised as girls. Median age at presentation was 18 months [range 0 days - 15 years]. At presentation, 6/11 had palpable gonads, 4 of whom also had single perineal opening (urogenital sinus, UGS). 6 children had an enlarged phallus.

In only 3/11 girls the possibility of DSD was raised during newborn examination. In the remainder, 2 children each were picked up by karyotype (incidental finding), palpable gonads, sibling screening, and 1 each of UGS, and delayed puberty. 5/11 of our study group had a sibling with DSD. The ultimate diagnosis is unknown in 8 (normal androgen binding in 7, results pending in 1), and 1 each have mixed gonadal dysgenesis, 5 -alpha reductase deficiency, complete androgen insensitivity, complete sex reversal.

Conclusion: In our diverse group of 46XY girls, only a small minority were picked up during the neonatal period. Many girls at presentation had clinical signs including palpable gonads, UGS or enlarged phallus. This emphasizes the importance of thorough neonatal genital examination for early diagnosis of DSD, especially in those with positive family history.