Profile of disorders of sexual differentiation in the Northeast region of Cairo, Egypt

Abstract

This retrospective study has been conducted to determine the frequency, types, clinical presentation and associated genomic errors in patients with sex differentiation errors and their relatives. The present study comprised of 908 index patients with sex differentiation errors who were registered at the Medical Genetics Center (ASUMGC), Ain Shams University. Out of 28,736 patients attending the center and 660,280 patients attending the Pediatrics clinic during the interval of 1966–2009. Our results showed that, the frequency among all patients attending the Pediatrics Hospital was 0.14%. Disorders of sex chromosome (Klinefelter syndrome and Turner syndrome) were the commonest, followed by mullerian dysgenesis. The commonest age of presentation was adolescence (>15–18 years)(36.56%), followed by patients aged 18 years or more (24.88%). In our study, 32.26% presented with primary female infertility, 27.86% adolescent girls presented with primary amenorrhea, 16.29% presented with male infertility, 10.35% presented with ambiguous genitalia at birth or soon afterward, 6.60% were females who presented with delayed 2ry sexual characters and short stature, 3.96% of our cases were boys who presented with microtestes and delayed 2ry sexual development and 2.75% presented with hirsutism. Central nervous system abnormalities were reported in 5.94% of our patients, ocular abnormalities in 4.29%, and cardiovascular system abnormalities in 2.86%. Three hundred and ninety-two multiple mutant genomic errors were defined among relatives of index cases of DSD families, where definable errors represented 35.24% and non-definable errors represented 7.92%. Cytogenetic findings of various DSD showed that, 33.46% of cases with Turner syndrome phenotype had (45,X), and 64.89% were mosaic (45,X/46,XX). While, among the 130 studied cases with Klinefelter syndrome phenotype, 83.84% had 47,XXY. Out of 75 patients with ovotesticular DSD, 85.33% possessed a 46,XX chromosome complement. To conclude, sex determination and differentiation are sequential processes that involve genetic, gonadal, phenotypic and psychological sex. Disorders of sexual differentiation, or syndromes of intersexuality, result when errors occur at any of these steps. Establishing a precise diagnosis in DSD is just as important as in other chronic medical conditions with lifelong consequences.

Keywords: Sex differentiation; Intersex; Ambiguous genitalia; Gonads; Genital surgery