TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans - Young, Jacques; Bouligand, Jerome; Francou, Bruno; Raffin-Sanson, Marie-Laure; Gaillez, Stephanie; Jeanpierre, Marc; Grynberg, Michael; Kamenicky, Peter; Chanson, Philippe; Brailly-Tabard, Sylvie; Guiochon-Mantel, Anne (The journal of clinical endocrinology and metabolism, 2010)
Keywords: Adult; Amenorrhea - genetics; Amino Acid Substitution; Biological and medical sciences; Breast - growth & development; Consanguinity; Endocrinopathies; Feeding. Feeding behavior; Female; Follicle Stimulating Hormone - blood; Follicle-stimulating hormone; Fundamental and applied biological sciences. Psychology; Gene Deletion; genetic processes; Genetics; Genetics & genetic processes; Gonadotropin-releasing hormone; Gonadotropins; Génétique & processus génétiques; Haplotypes; Homozygote; Humans; Hypogonadism; Hypogonadism - genetics; Hypogonadism - physiopathology; Hypogonadism/genetics/physiopathology; Hypothalamus; Hypothalamus. Hypophysis. Epiphysis (diseases); Introns - genetics; Life sciences; Luteinizing hormone; Luteinizing Hormone - blood; Male; Medical sciences; Mutation; Mutation, Missense; Neurokinin; Neurokinin B; Neurokinin B - genetics; Non tumoral diseases. Target tissue resistance. Benign neoplasms; Pedigree; Penis - abnormalities; Pituitary (anterior); Receptors, Neurokinin-3 - genetics; Sciences du vivant; Steroid hormones; Testosterone - blood; Vertebrates: anatomy and physiology, studies on body, several organs or systems; Vertebrates: endocrinology; Endocrinopathy; Human; Hypogonadotropic hypogonadism; Obesity; Congenital; Nutrition; Hypothalamic diseases; Nutrition disorder; Metabolic diseases; Congenital disease; Genital diseases; Cause; Defect; Endocrinology; Nutritional status