Estrogen-secreting testicular tumors in 46,XY female patients with 17α-hydroxylase/17,20-lyase deficiency: two unusual case reports and a review of the literature

Estrogen-secreting testicular tumors in 46,XY female patients with 17α-hydroxylase/17,20-lyase deficiency: two unusual case reports and a review of the literature

Context17α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive condition. Women who have the complete form of 17OHD typically have a female phenotype, with an absence of secondary sexual characteristics, primary amenorrhea, and hypertension, which is usually detected in adolesce...

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Main Authors: Julio Americo Pereira Batatinha, Mirian Yumie Nishi, Rafael Loch Batista, José Antônio Diniz Faria Júnior, Maria Helena Palma Sircili, Francisco Tibor Denes, Maria Jimena Chafloque Mesia, Laura da Silva Salvanini, Elaine Maria Frade Costa, Filomena Marino Carvalho, Berenice Bilharinho Mendonca, Sorahia Domenice
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Genetics
Subjects:
46,XY differences in sex development
17α-hydroxylase/17
20-lyase deficiency
CYP17A1 variants
testicular tumor
seminoma
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1508792/full
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