title: Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center.
abstract: The 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.
authors.affiliation: Universidade Federal da Bahia - Hospital Universitário Professor Edgard Santos, Laboratório de Pesquisa em Infectologia (LAPI), Salvador, BA, Brasil.
authors.forename: Bianca Costa
authors.initials: BC
authors.lastname: Mota
authors.affiliation: Universidade Federal da Bahia, Salvador, BA, Brasil.
authors.forename: Luciana Mattos Barros
authors.initials: LM
authors.lastname: Oliveira
authors.affiliation: Departamento de Pediatria, Universidade Federal da Bahia, Salvador, BA, Brasil.
authors.forename: Renata
authors.initials: R
authors.lastname: Lago
authors.affiliation: Universidade Federal da Bahia, Salvador, BA, Brasil.
authors.forename: Paula
authors.initials: P
authors.lastname: Brito
authors.affiliation: Universidade Federal da Bahia - Hospital Universitário Professor Edgard Santos, Laboratório de Pesquisa em Infectologia (LAPI), Salvador, BA, Brasil.
authors.forename: Ana Karina
authors.initials: AK
authors.lastname: Canguçú-Campinho
authors.affiliation: Departamento de Urologia, Universidade Federal da Bahia, Salvador, BA, Brasil.
authors.forename: Ubirajara
authors.initials: U
authors.lastname: Barroso
authors.affiliation: Departamento de Genética, Universidade Federal da Bahia, Salvador, BA, Brasil.
authors.forename: Maria Betânia Pereira
authors.initials: MB
authors.lastname: Toralles
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D001938:Brazil / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D058490:Disorder of Sex Development, 46,XY / Q000453:epidemiology* / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008499:Medical Records / Q000706:statistics & numerical data; D012189:Retrospective Studies; D017678:Sex Distribution; D012737:Sex Factors; D062606:Tertiary Care Centers / Q000706:statistics & numerical data; D055815:Young Adult