Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.

doi:10.1159/000468160

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Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2017

Fernández-Cancio Mónica, García-García Emilio, González-Cejudo Carmen, Martínez-Maestre María-Angeles, Mangas-Cruz Miguel-Angel, Guerra-Junior Gil, Pandi de Mello Maricilda, Arnhold Ivo J P, Nishi Mirian Y, Bilharinho Mendonça Berenice, García-Arumí Elena, Audí Laura, Tizzano Eduardo, Carrascosa Antonio

Abstract excerpt

17α-hydroxylase/17,20-lyase deficiency is a rare form of congenital adrenal hyperplasia caused by mutations in CYP17A1. Two phenotypic female sisters, aged 17 and 15 years and with 46,XY and 46,XX karyotypes, respectively, presented with primary amenorrhea and absent secondary sexual characteristics. The elder sib also presented with high blood pressure. Both patients had elevated levels of ACTH, gonadotropins,...

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PMID: 28376482
DOI: 10.1159/000468160

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