Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism

• Published in: The journal of clinical endocrinology and metabolism Vol. 94; no. 11; pp. 4380 - 4390
• Main Authors: Raivio, Taneli, Sidis, Yisrael, Plummer, Lacey, Chen, Huaibin, Ma, Jinghong, Mukherjee, Abir, Jacobson-Dickman, Elka, Quinton, Richard, Van Vliet, Guy, Lavoie, Helene, Hughes, Virginia A., Dwyer, Andrew, Hayes, Frances J., Xu, Shuyun, Sparks, Susan, Kaiser, Ursula B., Mohammadi, Moosa, Pitteloud, Nelly
• Format: Journal Article
• Language: English
• Published: Bethesda, MD Oxford University Press 01.11.2009; Copyright by The Endocrine Society; Endocrine Society; The Endocrine Society
• Subjects: Animals; Biological and medical sciences; Cell surface; Cercopithecus aethiops; Cohort Studies; COS Cells; DNA - blood; DNA - genetics; DNA - isolation & purification; Endocrinopathies; Estradiol - blood; Feeding. Feeding behavior; Female; Fibroblast Growth Factor 2 - pharmacology; Fibroblast growth factor receptor 1; Fibroblasts; Fundamental and applied biological sciences. Psychology; Genotype; Genotypes; Glycosylation; Growth factors; Humans; Hypogonadism; Hypogonadism - genetics; Hypothalamus. Hypophysis. Epiphysis (diseases); Kallmann's syndrome; Kinases; Male; Medical sciences; Mutants; Mutation; Non tumoral diseases. Target tissue resistance. Benign neoplasms; Olfaction; Original; Phenotype; Phenotypes; Phosphotyrosine - metabolism; Puberty; Puberty, Delayed - genetics; Receptor mechanisms; Receptor, Fibroblast Growth Factor, Type 1 - genetics; Reference Values; Testosterone - blood; Vertebrates: anatomy and physiology, studies on body, several organs or systems; Vertebrates: endocrinology; Endocrinopathy; Hypogonadotropic hypogonadism; Obesity; Nutrition; Hypothalamic diseases; Nutrition disorder; Idiopathic; Metabolic diseases; Growth retardation; Genital diseases; Signal transduction; Cause; Fibroblast growth factor receptor 1; Endocrinology; Nutritional status

Context: FGFR1 mutations have been identified in about 10% of patients with Kallmann syndrome. Recently cases of idiopathic hypogonadotropic hypogonadism (IHH) with a normal sense of smell (nIHH) have been reported. Aims: The objective of the study was to define the frequency of FGFR1 mutations in a...