Abstract
ABSTRACTThe term DSD refers to disorders that affect the normal process of sexual development causing disagreement between chromosomal, gonadal and phenotypic sex, and this study aimed to describe the clinical profile of a group with DSD 46, XY joined on DSD Clinic of Hospital of Salvador, Bahia Clinics. It was a retrospective study of medical records of survey data of 93 patients with DSD 46, XY. Among the patients studied 50.5% had no defined etiology and 20.4% had androgen insensitivity syndrome (AIS), 63.4% had been initially recorded in males, 31 (33.3%) in females, being that in two it was necessary to reassignment. All patients with complete AIS pure gonadal dysgenesis and had female genitalia. Others have been diagnosed with genital ambiguity or severe hypospadias and cryptorchidism. The gonads were palpable at the first consultation in 75.3% of patients. It is important to establish an active surveillance program for these patients. The first assessment took place before the age of ten in more than 50% of cases, which shows that much needs to be done for medical education and community about the DSD. Because the phenotypic variability of sexual development disorders was noted that the clinical profile of patients studied ranged between different etiologies, including hindering the diagnostic conclusion of these individuals.
Highlights
Individuals with 46, XY karyotype and disagreement between external genitalia and gonadal sex are classified as individuals with 46, XY disorders of sexual development (DSD)
Etiology may be associated to hypoplasia of Leydig cells, enzyme disturbances of testosterone synthesis, deficit of 5-alfa-reductase enzyme (DEF5α), testicular regression syndrome, gonadal disgenesia (GD), anorquia, androgen insensitivity syndrome (AIS) or ovotesticular DSD [3]
This is a retrospective study that included the review of the charts of all patients with diagnosis of DSD 46, XY followed in the ambulatory of a tertiary center of disorders of sexual development
Summary
Individuals with 46, XY karyotype and disagreement between external genitalia and gonadal sex are classified as individuals with 46, XY disorders of sexual development (DSD). Most of these patients have a autosomal recessive pattern of inheritance linked to X chromosome [1, 2]. The diagnosis of patients with 46, XY DSD is mainly clinical and laboratorial [4] and the treatment requires a multidisciplinary approach in order to determine the social sex These individuals may be referred to certain surgical procedures and hormonal treatment [3, 5, 6]
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