Associated Papers
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.
Batatinha JAP et al.
Frontiers in Genetics, 2025
[Clinical characteristics and CYP17A1 gene mutation analysis in patients with 17α-hydroxylase/17, 20-lyase deficiency and testicular tumor].
Han BB et al.
Zhonghua Nei Ke Za Zhi, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
A Novel Compound Heterozygous CYP17A1 Variant Causes 17α-Hydroxylase/17, 20-Lyase Deficiency.
Chen H et al.
Frontiers in Genetics, 2019
Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations.
Bulsari K et al.
Hormones (athens, Greece), 2018
Mutational analysis of rare subtypes of congenital adrenal hyperplasia in a highly inbred population.
Alswailem MM et al.
Molecular and Cellular Endocrinology, 2018
A novel compound heterozygous mutation in the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency.
Sun M et al.
Discovery Medicine, 2017
Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects.
Carvalho LC et al.
Fertility and Sterility, 2016
Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency.
Marsh CA et al.
Fertility and Sterility, 2014
A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.
Kim YM et al.
Metabolism: Clinical and Experimental, 2014
Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency.
Shi M et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2014
CYP17A1 mutations identified in 17 Chinese patients with 17α-hydroxylase/17,20-lyase deficiency.
Yao F et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2013
A unique exonic splicing mutation in the CYP17A1 gene as the cause for steroid 17{alpha}-hydroxylase deficiency.
Qiao J et al.
European Journal of Endocrinology, 2011
[Genetic mutation analysis of a kindred with a patient suffering from 17 alpha-hydroxylase/17, 20-lyase deficiency].
Chen Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
P450c17 deficiency: clinical and molecular characterization of six patients.
Rosa S et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Two novel mutations found in a patient with 17alpha-hydroxylase enzyme deficiency.
Ergun-Longmire B et al.
The Journal of Clinical Endocrinology and Metabolism, 2006