Associated Papers
46,XY 17 alpha-hydroxylase/17,20 lyase deficiency with breast development: A case report and literature review.
Kawashima S et al.
Endocrine Journal, 2025
Three misdiagnoses before a final diagnosis of 17α-hydroxylase/17,20-lyase deficiency: A case report.
Li J et al.
Medicine, 2025
Clinical and Genetic Analyses of Two Unrelated 46,XX Girls with Combined 17α-hydroxylase/17,20-lyase Deficiency from China
Li Y et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
17α-Hydroxylase/17,20-lyase Deficiency (17-OHD): A Meta-analysis of Reported Cases.
Willemsen AL et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
An isolated 17,20-lyase deficiency patient achieved a successful live birth after in vitro fertilization: a case report and narrative review.
Hou Z et al.
Journal of Assisted Reproduction and Genetics, 2025
Successful Treatment of Infertility in a Patient with Probable 17 Hydroxylase Deficiency and Particularities of Association with Adrenal Autoimmunity-A Case Report and Review of the Literature.
Albu AI et al.
Life (basel, Switzerland), 2023
An elderly patient with 17α-hydroxylase deficiency misdiagnosed as primary aldosteronism: a case report.
Ishinoda Y et al.
Bmc Endocrine Disorders, 2022
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Shiga N et al.
Human Genome Variation, 2022
17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature.
Maheshwari M et al.
Journal of the Endocrine Society, 2022
Reproductive endocrine characteristics and in vitro fertilization treatment of female patients with partial 17α-hydroxylase deficiency: Two pedigree investigations and a literature review.
Jiang S et al.
Frontiers in Endocrinology, 2022
A single-amino-acid in-frame deletion in CYP17A1 results in combined 17-hydroxylase and 17,20-lyase deficiency in an Iranian family despite the protein mutation site.
Habib A et al.
Human Genome Variation, 2021
Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation.
Lee HI et al.
Annals of Pediatric Endocrinology & Metabolism, 2021
Clinical, biochemical and genetic characteristics of children with congenital adrenal hyperplasia due to 17α-hydroxylase deficiency.
Asirvatham AR et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
Diagnosis of female 17α-hydroxylase deficiency after gonadectomy: a case report.
Mikami Y et al.
Journal of Medical Case Reports, 2019
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
Giant bilateral adrenal myelolipomas in two Chinese families with congenital adrenal hyperplasia.
Liu Q et al.
Endocrine Connections, 2018
Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency.
Mo EY et al.
Endocrinology and Metabolism (seoul, Korea), 2018
Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign.
Çamtosun E et al.
Journal of Clinical Research in Pediatric Endocrinology, 2017
Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development.
Kim JH et al.
Molecular and Cellular Endocrinology, 2017
Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect.
Han B et al.
Endocrine, 2016
Untreated Congenital Adrenal Hyperplasia with 17-α Hydroxylase/17,20-Lyase Deficiency Presenting as Massive Adrenocortical Tumor.
Lee SJ et al.
Endocrinology and Metabolism (seoul, Korea), 2015
New compound heterozygous mutations of p. Thr101Ilefs 2 and p. Thr306Ale in a child from a Chinese family with 17α-hydroxylase/17, 20-lyase deficiency.
Xiao H et al.
Genetics and Molecular Research : Gmr, 2015
Genetics of premature ovarian failure.
Bilgin EM et al.
Current Opinion in Obstetrics & Gynecology, 2015
A case of 17 alpha-hydroxylase deficiency.
Kim SM et al.
Clinical and Experimental Reproductive Medicine, 2015
CYP17A1 gene mutations and hypertension variations found in 46, XY females with combined 17α-hydroxylase/17, 20-lyase deficiency.
Wang YP et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2014
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
A new compound heterozygous mutation in the CYP17A1 gene in a female with 17α-hydroxylase/17,20-lyase deficiency.
Lee ES et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2013
Homozygous CYP17A1 mutation (H373L) identified in a 46,XX female with combined 17α-hydroxylase/17,20-lyase deficiency.
Lee MH et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2012
Clinical and genetic analysis for two Chinese siblings with 17α-hydroxylase/17,20-lyase deficiency.
Zhou Q et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2012
Phenotypic variation in a Chinese family with 46,XY and 46,XX 17α-hydroxylase deficiency.
Bee YM et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2012
Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency.
Tian Q et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2012
[A compound heterozygous mutation in CYP17A1 gene in a female subject with partial 17α-hydroxylase/17, 20 lyase deficiency].
Jiang Y et al.
Zhonghua Yi Xue Za Zhi, 2011
Prevalence of common mutations in the CYP17A1 gene in Chinese Han population.
Bao X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
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
Rare hypertension as a result of 17alpha-hydroxylase deficiency.
Wang W et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17alpha-hydroxylase/17,20-lyase deficiency.
Qiao J et al.
Clinical Endocrinology, 2010
Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency.
Katsumata N et al.
Metabolism: Clinical and Experimental, 2010
Novel P450c17 mutation H373D causing combined 17alpha-hydroxylase/17,20-lyase deficiency.
Sahakitrungruang T et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
[Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17a-hydroxylase/17, 20 lyase deficiency].
Liu BL et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2009
Puberty in a case with novel 17-hydroxylase mutation and the putative role of estrogen in development of pubic hair.
Turan S et al.
European Journal of Endocrinology, 2009
[A clinical and genetic analysis of a pedigree with two 46,XY patients suffering from 17alpha-hydroxylase deficiency].
Liang J et al.
Zhonghua Nei Ke Za Zhi, 2008
Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene.
Yang J et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Genotyping of five chinese patients with 17alpha-hydroxylase deficiency diagnosed through high-performance liquid chromatography serum adrenal profile: identification of two novel CYP17 mutations.
Wei JQ et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Seventeen alpha-hydroxylase deficiency.
Wong SL et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2006
Functional characterization of mutant CYP17 genes isolated from a 17 alpha-hydroxylase/17,20-lyase-deficient patient.
Hahm JR et al.
Metabolism: Clinical and Experimental, 2004
A novel compound heterozygous mutation in the CYP17 (P450 17alpha-hydroxylase) gene leading to 17alpha-hydroxylase/17,20-lyase deficiency.
Hahm JR et al.
Metabolism: Clinical and Experimental, 2003
A complex heterozygous mutation of His373Leu and Asp487-Ser488-Phe489 deletion in human cytochrome P450c17 causes 17alpha-hydroxylase/17,20-lyase deficiency in three Chinese sisters.
Qiao J et al.
Molecular and Cellular Endocrinology, 2003
Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency.
Van Den Akker EL et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency.
Gupta MK et al.
The Journal of Clinical Endocrinology and Metabolism, 2001