Pathogenic variants in <i>RNPC3</i> are associated with hypopituitarism and primary ovarian insufficiency
نویسندگان
چکیده
Brief Summary: This study extends the phenotypes related to pathogenic biallelic RNPC3 variants cover primary ovarian insufficiency (POI) in combination with previously associated growth hormone deficiency (GHD).
منابع مشابه
O-31: AMH and AMHR2 Genetic Variants in Chinese Women with Primary Ovarian Insufficiency and Normal Age at Natural Menopause
Background To investigate the role of the anti-Müllerian hormone (AMH) signalling pathway in the pathophysiology of idiopathic primary ovarian insufficiency (POI) and age at natural menopause (ANM) using a genetic approach MaterialsAndMethods DNA sequencing was used to detect the genotype distribution and allele frequency of the genes AMH and AMH receptor II (AMHR2) in 120 cases of idiopathic P...
متن کاملPOLR2C Mutations Are Associated With Primary Ovarian Insufficiency in Women
Context Primary ovarian insufficiency (POI) results from a premature loss of oocytes, causing infertility and early menopause. The etiology of POI remains unknown in a majority of cases. Objective To identify candidate genes in families affected by POI. Design This was a family-based genetic study. Setting The study was performed at two academic institutions. Patients and Other Particip...
متن کاملPrimary Ovarian Insufficiency
Primary ovarian insufficiency or premature menopause is one of the stressful problems in women younger than 40, which may cause numerous early or late psychological and physical complications. Failure of germ cell development is associated with complete ovarian insufficiency, while their decreased number is more likely associated with partial ovarian insufficiency, which leads to secondary amen...
متن کاملPrimary Ovarian Insufficiency
From the Integrative Reproductive Medi cine Unit, Intramural Research Program on Reproductive and Adult Endocrinology, National Institute of Child Health and Hu man Development, National Institutes of Health, Bethesda, MD. Address reprint requests to Dr. Nelson at the Integrative Reproductive Medicine Unit, NICHD– Intramural Research Program on Repro ductive and Adult Endocrinology, CRC, Rm....
متن کاملMutations in NR5A1 associated with ovarian insufficiency.
BACKGROUND The genetic causes of nonsyndromic ovarian insufficiency are largely unknown. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic-pituitary-steroidogenic axis. Mutation of NR5A1 causes 46,XY disorders of sex development, with or without adrenal failure, but growing experimental evidence from studies ...
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ژورنال
عنوان ژورنال: Yearbook of pediatric endocrinology
سال: 2022
ISSN: ['1662-3991', '1662-4009']
DOI: https://doi.org/10.1530/ey.19.1.7