A novel heterozygous SF1/NR5A1 gene variant causes 46,XY DSD-gonadal dysgenesis with hypergonadotropic hypogonadism without adrenal insufficiency

导出

摘要 Steroidogenic factor 1(SF1/NR5A1;nuclear receptor subfamily 5 group A member 1)is an essential orphan protein involved in gonadal embryogenesis,sex determination,and reproductive endocrinology.

作者 Luis Ramos

机构地区 Department of Reproductive Biology

出处《Genes & Diseases》 SCIE CSCD 2024年第4期128-130,共3页 基因与疾病（英文）

基金 the Declaration of Helsinki and the standard investigation protocols of the Institutional Ethical Committee for Investigation in Humans of the INCMNSZ(No.BRE-2614-18-21-1).

关键词 INSUFFICIENCY determination gonadal

分类号 R692 [医药卫生—泌尿科学]

引文网络
相关文献

1Mohamed Lamine Mariko,Djénéba Sylla Sow,Djénébou Traoré,Claire Bouvattier,Moctar Bah,Djibril Youssouf Traoré,Mahamadou Traore,Assa Traoré Sidibe.Endocrine and Cytogenetic Profile of Variations in Genital Development: Series of 9 Cases at the Mali Hospital[J].Open Journal of Endocrine and Metabolic Diseases,2020,10(5):77-87.
2Mozhgan Afkhamizadeh,Seyed Bahman Ghaderian,Reza Rajabian,Armaghan Moravej Aleali.Prevalence of Hypogonadotropic Hypogonadism in Type 2 Diabetes Male Patients[J].Open Journal of Endocrine and Metabolic Diseases,2015,5(3):29-36.
3Lilliana Ciotta,Isabella Pagano,Vito Leanza,Mariagrazia Stracquadanio,Carlo Pafumi.Genetics pathogenesis in the ovarian insufficiency[J].Open Journal of Preventive Medicine,2012,2(3):344-349.
4Suraj Unniappan,Balasubramanian Senthilkumaran.Editorial Reproduction and gonadal development in bony fishes[J].Aquaculture and Fisheries,2022,7(5):451-453.
5Xiangyan Ruan,Jiaojiao Cheng,Alfred O.Mueck.Gynecological endocrinological health and education for global women[J].Global Health Journal,2022,6(2):59-60.
6Mei-Nan He,Shan-Chao Zhao,Ji-Min Li,Lu-Lu Tong,Xin-Zhao Fan,Yao-Ming Xue,Xiao-Hong Lin,Ying Cao.Turner syndrome with positive SRY gene and non-classical congenital adrenal hyperplasia: A case report[J].World Journal of Clinical Cases,2021,9(10):2259-2267.
7曹春,孙晓平,姚云峰.Zolbetuximab治疗胃癌的研究进展[J].肿瘤学杂志,2024,30(4):286-290.
8Dalia Khalife,Suleiman Ghunaim,Lina El Taha,Omar Odeh,Natasha Habr,Johnny Awwad.Ovarian hyperstimulation syndrome following the use of GnRH agonist trigger of final oocyte maturation and freeze-all strategy: A case report and review of the literature[J].Asian pacific Journal of Reproduction,2022,11(6):292-298.
9Chinese Medical Doctor Association Reproductive Medicine Specialized Committee,Jie Qiao.Guideline for Diagnosis and Treatment of Infertility in Advanced Age Women(Revised Edition)[J].Reproductive and Developmental Medicine,2017,1(3):146-160. 被引量：1
10Junior Barthelemy Mekeme Mekeme,Etoa Ndzie,Agbor Orock Tanyi,Jean Cedrick Fouda,Achille Aurele Mbassi,Philip Owon Abessolo,Bright Che Awondo,Marcel Junior Yon Mekeme,Pierre Ongolo Zogo,Pierre Joseph Fouda,Eugene Sobngwi,Zachary Sando,Angwafo III Fru.Surgical Management of Adrenal Tumors: Experience of Three Tertiary Hospitals in Yaounde, Cameroon[J].Open Journal of Urology,2023,13(11):495-516.

Genes & Diseases

2024年第4期

浏览历史

内容加载中请稍等...

A novel heterozygous SF1/NR5A1 gene variant causes 46,XY DSD-gonadal dysgenesis with hypergonadotropic hypogonadism without adrenal insufficiency

相关作者

相关机构

相关主题

浏览历史