46,XY differences of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency
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2023
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Gomes, N. L.; Costa, E. M. F.; Inacio, M.; Martin, R. M.; Nishi, M. Y.; Carvalho, F. M.; Sircilli, M. H. P.; Tibor, F. D.; Domenice, S.; Mendonca, B. B.. 46,XY differences of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency. In: . Genetic Steroid Disorders: Second Edition: ELSEVIER, 2023. p.289-299.
Resumo
In this chapter, we revise the epidemiological, clinical, hormonal, genetical findings and also the long-term outcomes of 46,XY individuals with 17β-HSD3 deficiency based on the review of previously reported cases and also our own cases. © 2023 Elsevier Inc. All rights reserved.
Palavras-chave
17β-Hydroxysteroid dehydrogenase 3, 46, atypical genitalia, gender role, germ cell tumor, HSD17B3 gene, testosterone synthesis defect, XY DSD
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