Increased burden of rare sequence variants in GnRH-associated genes in women with hypothalamic amenorrhea
A Delaney, AB Burkholder, CA Lavender… - The Journal of …, 2021 - academic.oup.com
Context Functional hypothalamic amenorrhea (HA) is a common, acquired form of
hypogonadotropic hypogonadism that occurs in the setting of energy deficits and/or stress …
hypogonadotropic hypogonadism that occurs in the setting of energy deficits and/or stress …
A genetic basis for functional hypothalamic amenorrhea
LM Caronia, C Martin, CK Welt… - … England Journal of …, 2011 - Mass Medical Soc
Background Functional hypothalamic amenorrhea is a reversible form of gonadotropin-
releasing hormone (GnRH) deficiency commonly triggered by stressors such as excessive …
releasing hormone (GnRH) deficiency commonly triggered by stressors such as excessive …
Functional hypothalamic amenorrhea seen from different perspectives
FHA is a form of Hypogonadotropic Hypogonadism (HH) in which anovulation and estrogen
deficiency are expressed by inadequate endometrial growth, absence of menstruation, and …
deficiency are expressed by inadequate endometrial growth, absence of menstruation, and …
Epigenetics of functional hypothalamic amenorrhea
Functional hypothalamic amenorrhea (FHA) is a temporary infertility characterized by the
suppression of the hypothalamic–pituitary–gonadal (HPG) axis, induced by the inhibition of …
suppression of the hypothalamic–pituitary–gonadal (HPG) axis, induced by the inhibition of …
Functional hypogonadotropic hypogonadism in men: underlying neuroendocrine mechanisms and natural history
Context After completion of puberty a subset of men experience functional
hypogonadotropic hypogonadism (FHH) secondary to excessive exercise or weight loss …
hypogonadotropic hypogonadism (FHH) secondary to excessive exercise or weight loss …
Variety of genetic defects in GnRH and hypothalamic–pituitary signaling and development in normosmic patients with IHH
M Kałużna, B Budny, M Rabijewski, A Dubiel… - Frontiers in …, 2024 - frontiersin.org
Introduction Normosmic isolated hypogonadotropic hypogonadism (nIHH) is a clinically and
genetically heterogeneous disorder. Deleterious variants in over 50 genes have been …
genetically heterogeneous disorder. Deleterious variants in over 50 genes have been …
[HTML][HTML] Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis
S Bakhshalizadeh, F Afkhami, KM Bell… - Molecular and Cellular …, 2024 - Elsevier
Research question Premature ovarian insufficiency (POI) is characterised by amenorrhea
associated with elevated follicle stimulating hormone (FSH) under the age of 40 years and …
associated with elevated follicle stimulating hormone (FSH) under the age of 40 years and …
A novel GNRHR gene mutation causing congenital hypogonadotrophic hypogonadism in a Brazilian kindred
SR Correa‐Silva, JS Fausto, MML Kizys… - Journal of …, 2018 - Wiley Online Library
Congenital hypogonadotrophic hypogonadism (CHH) is a challenging inherited endocrine
disorder characterised by absent or incomplete pubertal development and infertility as a …
disorder characterised by absent or incomplete pubertal development and infertility as a …
Identification of gene variants in a cohort of hypogonadotropic hypogonadism: diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the …
A Gach, I Pinkier, K Sałacińska… - Molecular and Cellular …, 2020 - Elsevier
Congenital hypogonadotropic hypogonadism (CHH) is caused by dysfunction of
hypothalamic gonadotropic-releasing hormone (GnRH) axis. The condition is both clinically …
hypothalamic gonadotropic-releasing hormone (GnRH) axis. The condition is both clinically …
[HTML][HTML] A partial loss-of-function variant in GNRNR gene in a Chinese cohort with idiopathic hypogonadotropic hypogonadism
Y Chen, T Sun, Y Niu, D Wang, K Liu… - Translational …, 2021 - ncbi.nlm.nih.gov
Background Idiopathic hypogonadotropic hypogonadism (IHH) is a rare genetic disease
attributed to the disorder of hypothalamic-pituitary-gonadal axis. Mutations in the GNRHR …
attributed to the disorder of hypothalamic-pituitary-gonadal axis. Mutations in the GNRHR …
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