Trastornos de la diferenciación sexual: 20 años de experiencia

Abstract

Sexual differentiation is a sequential process resulting from the combination of chromosomal, gonadal, phenotypical and social sex. Objective To characterize patients with sexual differentiation disorders (SDD). Material and method A descriptive, retrospective study was performed. A total of 76 patients with SDD attending the Pediatric Endocrinology Department of the National Institute of Neoplastic Diseases in Havana, Cuba, in the previous 20 years were studied. Of these, 44 (57.9%) had female social sex and 32 (42.1%) had male social sex. Epidemiological variables, prenatal antecedents, clinical characteristics and karyotype were analyzed. Results The mean age at diagnosis of SDD was 5 years, with a greater frequency of white-skinned patients (85.5%; p < 0.005) and those from rural areas (60.5%; p < 0.001) than in the general population. SDDs were associated with threatened miscarriage (p < 0.05). The main reasons for consulting were genital ambiguity (35.5%), short stature (22.4%) and cryptorchidia (14.5%). Patients were classified into those with gonadal dysgenesis (39.6%), female pseudohermaphrodites (31.6%), male pseudohermaphrodites (28.9%) and true hermaphrodites (2.6%). A total of 86.8% of the patients received hormone raplacement therapy and 28.9 % of these also required surgical treatment. Gender reassignment was required in 3.9%. Chromosomal sex corresponded with social sex in 89.5% of the patients. Conclusions SDDs are diagnosed at an early age and are associated with white skin, living in a rural area and threatened miscarriage. The most frequent clinical characteristic was genital ambiguity and the most common disorder was gonadal dysgenesis. Most patients required hormone replacement therapy.