IMPE Abstracts

Objective: To describe the etiologicals characteristics of a group of patients with Sexual Differentiation Disorders (DSD) in follow-up at the pediatric endocrinology service of a tertiary hospital. METHODOLOGY: a cross-sectional study with retrospective analysis of medical records from January/2017 to November/2021, diagnosed with DDS, according to the 2006 Chicago Consensus criteria. RESULTS: 219 patients were evaluate, and their mean age was 12 (± 7.1) years. Thirty-three (15.1%) with sex chromosome DSD, of which 18 (54.5%) with Turner syndrome (45, X), 8 (24.2%) with Klinefelter syndrome (47, XXY), and 7 (21.2%) had mixed gonadal dysgenesis (45, X/46, XY and 46, XX/46, XY). In the sample, the most prevalent diagnosis was congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency in 58 (26.5%) patients, and the most common form was salt wasting due to 21-hydroxylase deficiency with 46 (79 .3%) carriers. Among the patients studied, 20 (9.1%) had a discrepancy between the genetic sex and the sex of the record. CONCLUSION: in the studied sample, the 46, XY karyotype was the most prevalent, although the most frequent diagnosis was CAH, more commonly detected in females. The profile of the patients studied is similar to those described in the literature and reinforces the importance of neonatal screening for detection boys with CAH.

1 Ovotesticular and male XX.

2 congenital adrenal hyperplasia (CAH).

3 Alpha reductase deficiency, micropenis and CAH.

4 Anorchia, cryptorchidism, gonadal and ovotesticular dysgenesis.

5 Partial and complete insensitivity to androgens