Disorders of Sexual Development in Dakar: Epidemiologic and Diagnostic Aspects about 122 Cases

IntroductionVariations in sex differentiation, or Disorders of Sex Development (DSD), are rare congenital anomalies of sexual development resulting in discordance between internal genitalia, external genitalia, and secondary sexual characteristics [1].Clear estimates of the incidence rate of individuals with sexual differentiation anomalies are lacking.This rate can vary from 1 in 4500 to 1 in 5500 live births in European countries [1][2][3][4].In Africa, an incidence of 28 per 10,000 and 1 in 4500 births has been found in some regions [2,5].The frequency of DSD also varies depending on the definition and appears to be more common in individuals with Research Article SummaryIntroduction: Disorders of sexual development (DSD), also known as variations of sex differentiation, are rare congenital anomalies of sexual development.Managing these conditions poses numerous challenges.The aim of this study was to evaluate the epidemiological and diagnostic aspects of DSD in our practice. Patients and methods:We conducted a descriptive retrospective study on patients followed and managed for DSD at the pediatric surgery department of the National Children's Hospital Albert Royer over a period of seven and a half years, from July 1, 2016, to December 31, 2023. Results:We collected 122 cases of DSD during the study period, with a hospital frequency of 16 cases per year.The anomaly was discovered in the neonatal period in 91% of cases.The mean age at first consultation was 3.5 years (1 day-16 years).Signs of puberty in the opposite sex to the rearing sex were noted in three patients (2.5%).Karyotyping revealed 46,XX in 67.7% of cases, 46,XY in 29% of cases, 46,XX/46,XY in 2.5% of cases, 45,XO/46,XX and 45,XO/46,XY in 0.8% each.Subjects with 46,XX were mostly classified as Prader type III, and all subjects with 46,XY presented with hypomasculinization with a mean score of 10.5.Surgical exploration with or without gonadal biopsy was performed in 28 patients (32.2%).The etiology was dominated by congenital adrenal hyperplasia (CAH) found in 31.2% of cases followed by ovotestis in 18% of cases.In a quarter of children, no cause was found.Cloacal malformation was associated in two patients. Conclusion:DSD are not uncommon and are often diagnosed late in our setting.Congenital adrenal hyperplasia and ovotesticular gonads are the main etiologies.