Keywords
Sexual adjustment surgery
Turner Syndrome
Congenital adrenal hyperplasia
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Abstract
Objective: To describe clinical and epidemiological characteristics of patients with Disorders of Sexual Development (DSD). Methods: This was a descriptive and retrospective analysis of medical records of 167 patients with DSD from a specialized outpatient clinic in Salvador, Bahia, Brazil. Sociodemographic and clinical data were collected and analyzed using descriptive statistics using Microsoft Excel 365. The study was approved by the Research Ethics Committee. Results: The most common diagnoses were Turner syndrome (33.53%) and Congenital Adrenal Hyperplasia (32.34%). The most frequent reasons for referral to the service were atypical genitalia (23.35%) and pubertal delay (14.37%). The mean age at diagnosis was 7.82 years. Family history of DSD was reported by 10.78% of patients. Three patients (1.8%) underwent gender reassignment, all with Congenital Adrenal Hyperplasia. 32.93% of patients had sex chromosome DSD karyotypes, 28.74% 46, XX and 26.95% 46, XY. Low Bone Mineral Density, obesity and hypothyroidism were the most common comorbidities. Eighteen patients (10.78%) underwent gonadectomy and 30 (18%) underwent vaginoplasty and/or clitoroplasty. Conclusion: Comparison of these data with those of similar studies revealed similarities, such as main etiologies, reasons for referral and tendency for early diagnosis, and differences that may be related to regional particularities.
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