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Pierre D E Mouriquand, Daniela Brindusa Gorduza, Claire-Lise Gay, Heino F L Meyer-Bahlburg, Linda Baker, Laurence S Baskin, Claire Bouvattier, Luis H Braga, Anthony C Caldamone, Lise Duranteau, Alaa El Ghoneimi, Terry W Hensle, Piet Hoebeke, Martin Kaefer, Nicolas Kalfa, Thomas F Kolon, Gianantonio Manzoni, Pierre-Yves Mure, Agneta Nordenskjöld, J L Pippi Salle, Dix Phillip Poppas, Philip G Ransley, Richard C Rink, Romao Rodrigo, Léon Sann, Justine Schober, Hisham Sibai, Amy Wisniewski, Katja P Wolffenbuttel, Peter Lee
Ten years after the consensus meeting on disorders of sex development (DSD), genital surgery continues to raise questions and criticisms concerning its indications, its technical aspects, timing and evaluation. This standpoint details each distinct situation and its possible management in 5 main groups of DSD patients with atypical genitalia: the 46,XX DSD group (congenital adrenal hyperplasia); the heterogeneous 46,XY DSD group (gonadal dysgenesis, disorders of steroidogenesis, target tissues impairments …); gonosomic mosaicisms (45,X/46,XY patients); ovo-testicular DSD; and "non-hormonal/non chromosomal" DSD...
June 2016: Journal of Pediatric Urology
David Coyle, Balazs Kutasy, Kathleen Han Suyin, Brice Antao, Sally Ann Lynch, Michael B McDermott, Susan M O'Connell, Feargal Quinn
BACKGROUND: It is recognised that individuals with a 45,X/46,XY karyotype, known as Turner mosaic syndrome with Y chromosome material (TMSY), have an increased risk of developing gonadoblastoma (GB), which may then devolve into one of a number of germ cell malignancies. Hence, children with TMSY are usually recommended to undergo prophylactic gonadectomy. OBJECTIVE: We designed this study to describe the phenotypic features of our series of children with TMSY who underwent prophylactic gonadectomy in order to evaluate the prevalence of GB and germ cell malignancies in their resected specimens...
October 2016: Journal of Pediatric Urology
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