A rare enzymatic defect, true isolated 17,20-lyase deficiency leading to endocrine disorders and infertility: case report-Reference-Cited by-同舟云学术

A rare enzymatic defect, true isolated 17,20-lyase deficiency leading to endocrine disorders and infertility: case report

Published:2019-11-06 Issue:4 Volume:36 Page:297-302
ISSN:0951-3590
Container-title:Gynecological Endocrinology
language:en
Short-container-title:Gynecological Endocrinology

Author:

Afsar Jamileh¹^ORCID,Kachuei Ali¹^ORCID,Hashemipour Mahin²^ORCID,Larki-Harchegani Amir³^ORCID,Shabib Somayeh⁴^ORCID

Affiliation:

1. Department of Internal Medicine, School of Medicine, Al-Zahra Hospital, Isfahan Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran;

2. Department of Pediatrics, School of Medicine, Imam Hossein Hospital, Isfahan Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran;

3. Department of Pharmacology and Toxicology, School of Pharmacy, Hamadan University of Medical Sciences, Hamadan, Iran;

4. Department of Clinical Pharmacy and Pharmacy Practice, School of Pharmacy, Isfahan University of Medical Sciences, Isfahan, Iran

Publisher

Informa UK Limited

Subject

Obstetrics and Gynaecology,Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.tandfonline.com/doi/pdf/10.1080/09513590.2019.1683819

Reference14 articles.

1. Endocrinology of the mammalian fetal testis

2. 17α-Hydroxylase/17, 20-Lyase Deficiency: Clinical and Molecular Characterization of Eight Chinese Patients

3. Novel mutation of the CYP17 gene in two unrelated patients with combined 17α-hydroxylase/17,20-lyase deficiency: Demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling

4. Disorders of sex development: a new definition and classification

5. Diagnosis and Management of Congenital Adrenal Hyperplasia in Children and Adults

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Novel mutations of the CYP17A1 gene cause disorders of sex development in two-chromosome karyotype 46,XY infants and a literature review: A case report;2023-11-29

2. Reproductive endocrine characteristics and in vitro fertilization treatment of female patients with partial 17α-hydroxylase deficiency: Two pedigree investigations and a literature review;Frontiers in Endocrinology;2022-09-14