TY - JOUR
T1 - Genetics of human hypogonadotropic hypogonadism
AU - Layman, Lawrence C.
N1 - Copyright:
Copyright 2007 Elsevier B.V., All rights reserved.
PY - 1999/12/29
Y1 - 1999/12/29
N2 - Humans with hypogonadotropic hypogonadism (HH) manifest irreversible pubertal delay, infertility, and low serum levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). Although the genetic basis of this condition is largely unknown, mutations have been identified in approximately 5-10% of HH patients. Mutations in the KAL gene (Kallmann syndrome) and the AHC gene (adrenal hypoplasia congenita/HH) cause X-linked recessive HH. Autosomal recessive HH may be brought about by mutations in the gonadotropin-releasing hormone receptor, leptin, and the leptin receptor genes. Isolated deficiencies of the gonadotropins FSH and LH are due to corresponding β-subunit genes. PROP1 gene mutations lead to combined pituitary deficiency, and HESX gene mutations result in septo-optic dysplasia, both of which include HH. These identified gene mutations advance our understanding of normal hypothalamic-pituitary-gonadal function. (C) 2000 Wiley-Liss, Inc.
AB - Humans with hypogonadotropic hypogonadism (HH) manifest irreversible pubertal delay, infertility, and low serum levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). Although the genetic basis of this condition is largely unknown, mutations have been identified in approximately 5-10% of HH patients. Mutations in the KAL gene (Kallmann syndrome) and the AHC gene (adrenal hypoplasia congenita/HH) cause X-linked recessive HH. Autosomal recessive HH may be brought about by mutations in the gonadotropin-releasing hormone receptor, leptin, and the leptin receptor genes. Isolated deficiencies of the gonadotropins FSH and LH are due to corresponding β-subunit genes. PROP1 gene mutations lead to combined pituitary deficiency, and HESX gene mutations result in septo-optic dysplasia, both of which include HH. These identified gene mutations advance our understanding of normal hypothalamic-pituitary-gonadal function. (C) 2000 Wiley-Liss, Inc.
KW - Adrenal hypoplasia congenita
KW - Delayed puberty (genetics)
KW - Gonadotropin genes
KW - Idiopathic hypogonadotropic hypogonadism
KW - Kallmann syndrome
KW - Septo-optic dysplasia
UR - http://www.scopus.com/inward/record.url?scp=0033616206&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0033616206&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19991229)89:4<240::AID-AJMG8>3.0.CO;2-7
DO - 10.1002/(SICI)1096-8628(19991229)89:4<240::AID-AJMG8>3.0.CO;2-7
M3 - Review article
C2 - 10727999
AN - SCOPUS:0033616206
SN - 0148-7299
VL - 89
SP - 240
EP - 248
JO - American Journal of Medical Genetics - Seminars in Medical Genetics
JF - American Journal of Medical Genetics - Seminars in Medical Genetics
IS - 4
ER -