Article
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea.
The Journal of clinical endocrinology and metabolism - 8 Mar 2021
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
Abstract excerpt
CONTEXT: 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...
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