AMH mutations with reduced in vitro bioactivity are related to premature ovarian insufficiency
نویسندگان
چکیده
منابع مشابه
AMH mutations with reduced in vitro bioactivity are related to premature ovarian insufficiency.
STUDY QUESTION Could anti-Müllerian hormone (AMH) mutations be implicated in the development of idiopathic premature ovarian insufficiency (POI)? SUMMARY ANSWER Three rare or unknown missense variants of the AMH gene were identified in a cohort of 55 POI patients; all three variants showed a drastically reduced in vitro bioactivity. WHAT IS KNOWN ALREADY Genetic factors are implicated in 5-...
متن کاملElevated LH levels draw a stronger distinction than AMH in premature ovarian insufficiency.
OBJECTIVES A significant number of individuals have high serum follicle stimulating hormone (FSH) levels but do not meet the criteria for diagnosis of premature ovarian insufficiency (POI) due to ongoing menstruation. We compared a group of women with elevated FSH levels and POI with a control group in terms of biochemical markers. METHODS In this cross-sectional retrospective study, 38 POI c...
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 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 ...
متن کاملO-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...
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ژورنال
عنوان ژورنال: Human Reproduction
سال: 2015
ISSN: 0268-1161,1460-2350
DOI: 10.1093/humrep/dev042