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• W3082188472 abstract "Functional hypothalamic amenorrhea (HA) is a common, acquired form of hypogonadotropic hypogonadism that occurs in the setting of energy deficits and/or stress. Variability in individual susceptibility to these stressors, HA heritability, and previous identification of several rare sequence variants (RSVs) in genes associated with the rare disorder, isolated hypogonadotropic hypogonadism (IHH), in individuals with HA suggest a possible genetic contribution to HA susceptibility.We sought to determine whether the burden of RSVs in IHH-related genes is greater in women with HA than controls.We compared patients with HA to control women.The study was conducted at secondary referral centers.Women with HA (n = 106) and control women (ClinSeq study; n = 468).We performed exome sequencing in all patients and controls.The frequency of RSVs in 53 IHH-associated genes was determined using rare variant burden and association tests.RSVs were overrepresented in women with HA compared with controls (P = .007). Seventy-eight heterozygous RSVs in 33 genes were identified in 58 women with HA (36.8% of alleles) compared to 255 RSVs in 41 genes among 200 control women (27.2%).Women with HA are enriched for RSVs in genes that cause IHH, suggesting that variation in genes associated with gonadotropin-releasing hormone neuronal ontogeny and function may be a major determinant of individual susceptibility to developing HA in the face of diet, exercise, and/or stress." @default.
• W3082188472 created "2020-09-08" @default.
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• W3082188472 date "2020-09-01" @default.
• W3082188472 modified "2023-09-26" @default.
• W3082188472 title "Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea" @default.
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• W3082188472 doi "https://doi.org/10.1210/clinem/dgaa609" @default.
• W3082188472 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7947783" @default.
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