Artículos de revistas
408 Cases Of Genital Ambiguity Followed By Single Multidisciplinary Team During 23 Years: Etiologic Diagnosis And Sex Of Rearing
Registro en:
International Journal Of Endocrinology. Hindawi Publishing Corp, p. , 2016.
1687-8337
1687-8345
WOS:000389984200001
10.1155/2016/4963574
Autor
De Paula
Georgette Beatriz; Barros
Beatriz Amstalden; Carpini
Stela; Tincani
Bruna Jordan; Mazzola
Tais Nitsch; Guaragna
Mara Sanches; da Cruz Piveta
Cristiane Santos; de Oliveira
Laurione Candido; Ribeiro Andrade
Juliana Gabriel; Guaragna-Filho
Guilherme; Barbieri
Pedro Perez; Ferreira
Nathalia Montibeler; Miranda
Marcio Lopes; Goncalves
Ezequiel Moreira; Morcillo
Andre Moreno; Viguetti-Campos
Nilma Lucia; Valente Lemos-Marini
Sofia Helena; de Paiva Silva
Roberto Benedito; Marques-de-Faria
Antonia Paula; De Mello
Maricilda Palandi; Maciel-Guerra
Andrea Trevas; Guerra-Junior
Gil
Institución
Resumen
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) 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%) complexmalformations. Themain 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. Sao Paulo Research Foundation (FAPESP) National Council for Scientific and Technological Development (CNPq) Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)