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RF34 | PMON19 Biallelic Variants in the INHA Gene Are the Cause of Gonadal Dysgenesis, Primary Amenorrhea and Absence of Puberty in the Setting of Hypergonadotropic Hypogonadism

BACKGROUND: Hypergonadotropic hypogonadism can be caused by congenital or acquired causes. These can range from chromosomal abnormalities, enzymatic defects or mutations that cause gonadotropin resistance, trauma, chemotherapy, infections etc. It is uncommon in females other than in Turner syndrome...

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Detalles Bibliográficos
Autores principales: Rodriguez, Adriana, Yatsenko, Svetlana, Escobar, Oscar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625773/
http://dx.doi.org/10.1210/jendso/bvac150.969