title: 408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing.
abstract: Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia.Methods. Retrospective study during 23 years at outpatient clinic of a referral center.Results. There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testicular DSD, 105 (25.7%) 46,XX ovarian DSD, 95 (23.3%) disorders of gonadal development (DGD), and 19 (4.7%) complex malformations. The main etiology of 46,XX ovarian DSD was salt-wasting 21-hydroxylase deficiency. In 46,XX and 46,XY groups, other malformations were observed. In the DGD group, 46,XY partial gonadal dysgenesis, mixed gonadal dysgenesis, and ovotesticular DSD were more frequent. Low birth weight was observed in 42 cases of idiopathic 46,XY testicular DSD. The average age at diagnosis was 31.7 months. The final sex of rearing was male in 238 cases and female in 170. Only 6.6% (27 cases) needed sex reassignment.Conclusions. In this large DSD sample with ambiguous genitalia, the 46,XY karyotype was the most frequent; in turn, congenital adrenal hyperplasia was the most frequent etiology. Malformations associated with DSD were common in all groups and low birth weight was associated with idiopathic 46,XY testicular DSD.
authors.affiliation: Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil.
authors.forename: Georgette Beatriz
authors.initials: GB
authors.lastname: De Paula
authors.affiliation: Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil.
authors.forename: Beatriz Amstalden
authors.initials: BA
authors.lastname: Barros
authors.affiliation: Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil; Department of Pediatrics, FCM, UNICAMP, Campinas, SP, Brazil.
authors.forename: Stela
authors.initials: S
authors.lastname: Carpini
authors.affiliation: Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil.
authors.forename: Bruna Jordan
authors.initials: BJ
authors.lastname: Tincani
authors.affiliation: Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil; Growth and Development Laboratory, Center for Investigation in Pediatrics (CIPED), FCM, UNICAMP, Campinas, SP, Brazil; Laboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering (CBMEG), UNICAMP, Campinas, SP, Brazil.
authors.forename: Tais Nitsch
authors.initials: TN
authors.lastname: Mazzola
authors.affiliation: Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil; Laboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering (CBMEG), UNICAMP, Campinas, SP, Brazil.
authors.forename: Mara
authors.initials: M
authors.lastname: Sanches Guaragna
authors.affiliation: Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil; Laboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering (CBMEG), UNICAMP, Campinas, SP, Brazil.
authors.forename: Cristiane Santos da Cruz
authors.initials: CS
authors.lastname: Piveta
authors.affiliation: Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil; Laboratory of Clinical Pathology, Clinical Hospital, FCM, UNICAMP, Campinas, SP, Brazil.
authors.forename: Laurione Candido
authors.initials: LC
authors.lastname: de Oliveira
authors.affiliation: Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil.
authors.forename: Juliana Gabriel Ribeiro
authors.initials: JG
authors.lastname: Andrade
authors.affiliation: Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil.
authors.forename: Guilherme
authors.initials: G
authors.lastname: Guaragna-Filho
authors.affiliation: Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil; Growth and Development Laboratory, Center for Investigation in Pediatrics (CIPED), FCM, UNICAMP, Campinas, SP, Brazil.
authors.forename: Pedro Perez
authors.initials: PP
authors.lastname: Barbieri
authors.affiliation: Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil; Growth and Development Laboratory, Center for Investigation in Pediatrics (CIPED), FCM, UNICAMP, Campinas, SP, Brazil.
authors.forename: Nathalia Montibeler
authors.initials: NM
authors.lastname: Ferreira
authors.affiliation: Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil; Pediatric Surgery, Department of Surgery, FCM, UNICAMP, Campinas, SP, Brazil.
authors.forename: Marcio Lopes
authors.initials: ML
authors.lastname: Miranda
authors.affiliation: Growth and Development Laboratory, Center for Investigation in Pediatrics (CIPED), FCM, UNICAMP, Campinas, SP, Brazil.
authors.forename: Ezequiel Moreira
authors.initials: EM
authors.lastname: Gonçalves
authors.affiliation: Department of Pediatrics, FCM, UNICAMP, Campinas, SP, Brazil; Growth and Development Laboratory, Center for Investigation in Pediatrics (CIPED), FCM, UNICAMP, Campinas, SP, Brazil.
authors.forename: Andre Moreno
authors.initials: AM
authors.lastname: Morcillo
authors.affiliation: Cytogenetics Laboratory, Department of Medical Genetics, FCM, UNICAMP, Campinas, SP, Brazil.
authors.forename: Nilma Lucia
authors.initials: NL
authors.lastname: Viguetti-Campos
authors.affiliation: Department of Pediatrics, FCM, UNICAMP, Campinas, SP, Brazil; Growth and Development Laboratory, Center for Investigation in Pediatrics (CIPED), FCM, UNICAMP, Campinas, SP, Brazil.
authors.forename: Sofia Helena Valente
authors.identifier: 0000-0002-8289-5703
authors.initials: SH
authors.lastname: Lemos-Marini
authors.affiliation: Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil.
authors.forename: Roberto Benedito de Paiva
authors.initials: RB
authors.lastname: Silva
authors.affiliation: Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil; Department of Medical Genetics, FCM, UNICAMP, Campinas, SP, Brazil.
authors.forename: Antonia Paula
authors.initials: AP
authors.lastname: Marques-de-Faria
authors.affiliation: Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil; Laboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering (CBMEG), UNICAMP, Campinas, SP, Brazil.
authors.forename: Maricilda Palandi
authors.initials: MP
authors.lastname: De Mello
authors.affiliation: Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil; Department of Medical Genetics, FCM, UNICAMP, Campinas, SP, Brazil.
authors.forename: Andrea Trevas
authors.initials: AT
authors.lastname: Maciel-Guerra
authors.affiliation: Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil; Department of Pediatrics, FCM, UNICAMP, Campinas, SP, Brazil; Growth and Development Laboratory, Center for Investigation in Pediatrics (CIPED), FCM, UNICAMP, Campinas, SP, Brazil.
authors.forename: Gil
authors.identifier: 0000-0002-2991-7678
authors.initials: G
authors.lastname: Guerra-Junior