학술논문
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea.
Document Type
Article
Author
Delaney, Angela; Burkholder, Adam B; Lavender, Christopher A; Plummer, Lacey; Mericq, Veronica; Merino, Paulina M; Quinton, Richard; Lewis, Katie L; Meader, Brooke N; Albano, Alessandro; Shaw, Natalie D; Welt, Corrine K; Martin, Kathryn A; Seminara, Stephanie B; Biesecker, Leslie G; Bailey-Wilson, Joan E; Hall, Janet E
Source
The Journal of Clinical Endocrinology & Metabolism; March 2021, Vol. 106 Issue: 3 pe1441-e1452, 12p
Subject
Language
ISSN
0021972X; 19457197
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.