408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing
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 an...
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Wiley
2016-01-01
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| Series: | International Journal of Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2016/4963574 |
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| author | Georgette Beatriz De Paula Beatriz Amstalden Barros Stela Carpini Bruna Jordan Tincani Tais Nitsch Mazzola Mara Sanches Guaragna Cristiane Santos da Cruz Piveta Laurione Candido de Oliveira Juliana Gabriel Ribeiro Andrade Guilherme Guaragna-Filho Pedro Perez Barbieri Nathalia Montibeler Ferreira Marcio Lopes Miranda Ezequiel Moreira Gonçalves Andre Moreno Morcillo Nilma Lucia Viguetti-Campos Sofia Helena Valente Lemos-Marini Roberto Benedito de Paiva Silva Antonia Paula Marques-de-Faria Maricilda Palandi De Mello Andrea Trevas Maciel-Guerra Gil Guerra-Junior |
| author_facet | Georgette Beatriz De Paula Beatriz Amstalden Barros Stela Carpini Bruna Jordan Tincani Tais Nitsch Mazzola Mara Sanches Guaragna Cristiane Santos da Cruz Piveta Laurione Candido de Oliveira Juliana Gabriel Ribeiro Andrade Guilherme Guaragna-Filho Pedro Perez Barbieri Nathalia Montibeler Ferreira Marcio Lopes Miranda Ezequiel Moreira Gonçalves Andre Moreno Morcillo Nilma Lucia Viguetti-Campos Sofia Helena Valente Lemos-Marini Roberto Benedito de Paiva Silva Antonia Paula Marques-de-Faria Maricilda Palandi De Mello Andrea Trevas Maciel-Guerra Gil Guerra-Junior |
| author_sort | Georgette Beatriz De Paula |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-30ead1c5129f4ee9a6bd38be2f250503 |
| institution | Kabale University |
| issn | 1687-8337 1687-8345 |
| language | English |
| publishDate | 2016-01-01 |
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| series | International Journal of Endocrinology |
| spelling | doaj-art-30ead1c5129f4ee9a6bd38be2f2505032025-02-03T05:47:42ZengWileyInternational Journal of Endocrinology1687-83371687-83452016-01-01201610.1155/2016/49635744963574408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of RearingGeorgette Beatriz De Paula0Beatriz Amstalden Barros1Stela Carpini2Bruna Jordan Tincani3Tais Nitsch Mazzola4Mara Sanches Guaragna5Cristiane Santos da Cruz Piveta6Laurione Candido de Oliveira7Juliana Gabriel Ribeiro Andrade8Guilherme Guaragna-Filho9Pedro Perez Barbieri10Nathalia Montibeler Ferreira11Marcio Lopes Miranda12Ezequiel Moreira Gonçalves13Andre Moreno Morcillo14Nilma Lucia Viguetti-Campos15Sofia Helena Valente Lemos-Marini16Roberto Benedito de Paiva Silva17Antonia Paula Marques-de-Faria18Maricilda Palandi De Mello19Andrea Trevas Maciel-Guerra20Gil Guerra-Junior21Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, BrazilInterdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, BrazilInterdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, BrazilInterdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, BrazilInterdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, BrazilInterdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, BrazilInterdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, BrazilInterdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, BrazilInterdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, BrazilInterdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, BrazilInterdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, BrazilInterdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, BrazilInterdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, BrazilGrowth and Development Laboratory, Center for Investigation in Pediatrics (CIPED), FCM, UNICAMP, Campinas, SP, BrazilDepartment of Pediatrics, FCM, UNICAMP, Campinas, SP, BrazilCytogenetics Laboratory, Department of Medical Genetics, FCM, UNICAMP, Campinas, SP, BrazilDepartment of Pediatrics, FCM, UNICAMP, Campinas, SP, BrazilInterdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, BrazilInterdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, BrazilInterdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, BrazilInterdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, BrazilInterdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, BrazilObjective. 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.http://dx.doi.org/10.1155/2016/4963574 |
| spellingShingle | Georgette Beatriz De Paula Beatriz Amstalden Barros Stela Carpini Bruna Jordan Tincani Tais Nitsch Mazzola Mara Sanches Guaragna Cristiane Santos da Cruz Piveta Laurione Candido de Oliveira Juliana Gabriel Ribeiro Andrade Guilherme Guaragna-Filho Pedro Perez Barbieri Nathalia Montibeler Ferreira Marcio Lopes Miranda Ezequiel Moreira Gonçalves Andre Moreno Morcillo Nilma Lucia Viguetti-Campos Sofia Helena Valente Lemos-Marini Roberto Benedito de Paiva Silva Antonia Paula Marques-de-Faria Maricilda Palandi De Mello Andrea Trevas Maciel-Guerra Gil Guerra-Junior 408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing International Journal of Endocrinology |
| title | 408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing |
| title_full | 408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing |
| title_fullStr | 408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing |
| title_full_unstemmed | 408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing |
| title_short | 408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing |
| title_sort | 408 cases of genital ambiguity followed by single multidisciplinary team during 23 years etiologic diagnosis and sex of rearing |
| url | http://dx.doi.org/10.1155/2016/4963574 |
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