title: Perspective: the importance of genetic defects in humans in elucidating the complexities of the hypothalamic-pituitary-gonadal axis.
authors.affiliation: Massachusetts General Hospital, Reproductive Endocrine Science Center, Boston 02114, USA.
authors.forename: S B
authors.initials: SB
authors.lastname: Seminara
authors.forename: W F
authors.initials: WF
authors.lastname: Crowley
mesh_terms: D000309:Adrenal Insufficiency / Q000151:congenital / Q000235:genetics / Q000503:physiopathology; D000818:Animals; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins / Q000235:genetics; D016326:Extracellular Matrix Proteins; D005260:Female; D006065:Gonadotropins, Pituitary / Q000235:genetics; D006066:Gonads / Q000503:physiopathology*; D006801:Humans; D007031:Hypothalamus / Q000503:physiopathology*; D017436:Kallmann Syndrome / Q000235:genetics / Q000503:physiopathology; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D010902:Pituitary Gland / Q000503:physiopathology*; D018168:Receptors, Retinoic Acid / Q000235:genetics; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics
chemical_list: C076266:ANOS1 protein, human; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; D016326:Extracellular Matrix Proteins; D006065:Gonadotropins, Pituitary; C539965:NR0B1 protein, human; D009419:Nerve Tissue Proteins; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins; D014157:Transcription Factors