ESPE Abstracts

Background: Disorders of sexual differentiation (DSD) at birth is a serious defect often seen in endocrinology. Diagnosis must be early to ask an etiologic diagnosis, choose the sex of rearing and effectively treat the disease.

Objective and hypotheses: Search etiologies of sexual ambiguities and clarify the phenotypic characteristics.

Method: This is a retrospective study of 180 sexual ambiguities hospitalized. All patients underwent a clinical examination, radiological, cytogenetic exploration, and hormonal investigation guided by the clinical presentation.

Results: There was a predominance of DSD for girls (126 vs 54).

The mean age of patients at diagnosis is 8 years (3 months–19 years old). The ambiguity was observed at birth in 68% of XX TDS cases and 24% TDS XY ambiguity was observed at birth in 68.1%. Nonetheless children have been oriented endocrinology dice the first year of life in 37.5% of cases. Parental consanguinity was found in 45% of cases with a family form in 10% congenital adrenal hyperplasia. Phenotypically sexual ambiguity in DSD, XY was at stage 3, 66.6 and 4: 25% (Quigly), whereas in stage 3, 30% and stage 4, 40% for DSD, XX (Prader) Exploration etiological found: TDS XY: gonadal dysgenesis (25%), an enzyme block (16.6%), an androgen resistance (16.6%), an syndrome polymalformative. No recognized etiology (41.6%). TDS XX: HCS: 88%; Turner syndrome with material Y (12%).

Conclusion: DSD cover a broad spectrum of clinical pictures. Their causes are varied and affect all stages of sex determination. They require taking rational and rapid charge within a multidisciplinary team.