Complete 46,XY gonadal dysgenesis or Swyer syndrome: A case report.

Abstract

INTRODUCTION: 46, XY Complete Gonadal Dysgenesis (46, XY DGC), or Swyer Syndrome, is an alteration of sexual development, characterized by a female phenotype; primary amenorrhea; normal or rudimentary uterus; Gonadal striae and 46, XY karyotype. CASE REPORT: A 14-year-old patient comes for a referral to a second-level care center; due to primary amenorrhea and hypogonadism under study. On physical examination: Tanner 1 breasts; Tanner 1 axillary and pubic hair; female apparent external genitalia without secondary development, smooth labia majora, without roughness, without increased pigmentation; with small non-visible labia minora; hysteroscopy that reported: presence of complete hymen, normal vagina; Small cervix, with normal endocervical canal, without passing into the cavity of the uterus. Peripheral blood karyotype: 46, XY. CONCLUSION: 46, XY complete gonadal dysgenesis is a clinical entity that should be considered in all patients with primary amenorrhea and absence of secondary sexual characteristics. The multidisciplinary assessment will allow to establish the appropriate diagnosis and treatment for this type of disease.