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Rare missense variant inMSH4associated with primary gonadal failure in both 46, XX and 46, XY individuals

Autor: Mehdi Totonchi, Mehri Mashayekhi, Ken McElreavey, Navid Almadani, Anu Bashambou, Arvand Akbari, Kimiya Padidar, Najmeh Salehi, Mohammad Ali Sadighi Gilani

Publikováno v: Human Reproduction
Human Reproduction, 2021, 36 (4), pp.1134-1145. ⟨10.1093/humrep/deaa362⟩
Human Reproduction, Oxford University Press (OUP), 2021, 36 (4), pp.1134-1145. ⟨10.1093/humrep/deaa362⟩

STUDY QUESTIONCan whole-exome sequencing (WES) reveal a shared pathogenic variant responsible for primary gonadal failure in both male and female patients from a consanguineous family?SUMMARY ANSWERPatients with primary ovarian insufficiency (POI) an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fbb6fadc8926a4bf1f45ebf363194ab
https://doi.org/10.1093/humrep/deaa362

Hypogonadism in Pediatric Health: Adult Medicine Concepts Fail

Autor: Analia Freire, Rodolfo Rey, Romina P Grinspon

Publikováno v: Trends in endocrinology and metabolism: TEM. 30(12)

The classical definition of hypogonadism, used in adult medicine, as gonadal failure resulting in deficient steroid and gamete production, and its classification into hypergonadotropic and hypogonadotropic refer to primary gonadal and hypothalamic–

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::283513e118266eb9587a6bb0f8bb178c
https://pubmed.ncbi.nlm.nih.gov/31471249

Hypogonadism in Children with a Previous History of Cancer : Endocrine Management and Follow-Up

Autor: W. Hamish B. Wallace, Marry M. van den Heuvel-Eibrink, Hanneke M van Santen, Marianne D. van de Wetering

Publikováno v: Hormone Research in Paediatrics, 91(2), 93. S. Karger AG

Hypogonadism after treatment for childhood cancer is a recognized complication and its cause may be subdivided into primary gonadal failure and central hypogonadism. Here, we provide an overview of the risk factors for the development of hypogonadism

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1f3aeaab2fe0c77c1bebdb0209bef0e
https://doi.org/10.1159/000495943

Persistent primary hypogonadism associated with anabolic steroid abuse

Autor: Lisa Joels, Kusuma Boregowda, David E. Price, Jeffrey W. Stephens

Publikováno v: Fertility and sterility. 96(1)

Objective To report a case of primary gonadal failure due to the chronic abuse of anabolic steroids used for bodybuilding. Design Case report. Setting Department of Diabetes and Endocrinology, Morriston Hospital, Swansea, Wales, United Kingdom. Patie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc81344e5924c4d11bfebcf6cf80da17
https://pubmed.ncbi.nlm.nih.gov/21575947