Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis

Author:

Gomes Nathalia L.1ORCID,Lerário Antônio Marcondes12,Machado Aline Zamboni1,Moraes Daniela Rodrigues de1,Silva Thatiana Evilen da1,Arnhold Ivo J. P.1,Batista Rafael Loch1ORCID,Faria Júnior José Antônio Diniz1,Costa Elaine F.1ORCID,Nishi Mirian Y.1ORCID,Inacio Marlene1,Domenice Sorahia1ORCID,Mendonca Berenice B.1ORCID

Affiliation:

1. Unidade de Endocrinologia do Desenvolvimento; Laboratório de Hormônios e Genética Molecular/LIM42; Hospital das Clínicas; Disciplina de Endocrinologia; Faculdade de Medicina da Universidade de São Paulo; São Paulo Brazil

2. Department of Internal Medicine; Division of Metabolism, Endocrinology and Diabetes; University of Michigan; Ann Arbor MI USA

Funder

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Fundação de Amparo à Pesquisa do Estado de São Paulo

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Reference51 articles.

1. Disorders of sex development: new genes, new concepts;Ono;Nat Rev Endocrinol,2013

2. Long-term follow-up of patients with 46, XY partial gonadal dysgenesis reared as males;Gabriel Ribeiro de Andrade;Int J Endocrinol,2014

3. Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development;Abacı;J Pediatr Endocrinol Metab,2015

4. Wide spectrum of NR5A1-related phenotypes in 46, XY and 46, XX individuals;Domenice;Birth Defects Res C Embryo Today,2016

5. A novel WT1 heterozygous nonsense mutation (p. K248X) causing a mild and slightly progressive nephropathy in a 46, XY patient with Denys-Drash syndrome;Silva;Pediatr Nephrol,2011

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