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

17[alpha]-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 character...

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Published inSexual development Vol. 11; no. 2; pp. 70 - 77
Main Authors Fernandez-Cancio, Monica, Garcia-Garcia, Emilio, Gonzalez-Cejudo, Carmen, Martinez-Maestre, Maria-Angeles, Mangas-Cruz, Miguel-Angel, Guerra, Gil, Jr, de Mello, Maricilda Pandi, Arnhold, Ivo J.P, Nishi, Mirian Y, Mendonca, Berenice Bilharinho, Garcia-Arumi, Elena, Audi, Laura, Tizzano, Eduardo, Carrascosa, Antonio
Format Journal Article
LanguageEnglish
Published S. Karger AG 01.05.2017
Subjects
Aldosterone
Alleles
Amenorrhea
Analysis
Chromosomes
Congenital adrenal hyperplasia
Corticosterone
Corticotropin
Cytochrome P-450
Dehydroepiandrosterone
Estradiol
Estrogens
Genes
Genetic aspects
Genetic disorders
Glucocorticoids
Gonadotropins
Hydroxylases
Hydroxyprogesterone
Hyperplasia
Hypertension
Phenols (Class of compounds)
Progesterone
Sex hormones
Testosterone
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Summary:17[alpha]-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, progesterone, corticosterone, and deoxycorticosterone, and reduced levels of estradiol, testosterone, androstenedione, 17-OH-P, DHEA-S, cortisol, aldosterone, and renin activity. The CYP17A1 gene was sequenced, and polymorphic haplotypes were further analyzed in the Spanish family and in Brazilian patients. The 2 sisters were compound heterozygous for p.Arg362Cys and p.Trp406Arg mutations, previously described as the most prevalent mutations in Brazilian families of Spanish (p.Trp406Arg) or Portuguese
ISSN:1661-5425
1661-5433
DOI:10.1159/000468160