Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene.
A 30-year-old man who presented with delayed puberty and infertility was found to have hypogonadism associated with an absence of circulating luteinizing hormone. The patient had a homozygous missense mutation in the gene that encodes the beta subunit of luteinizing hormone (Gly36Asp), a mutation that disrupted a vital cystine knot motif and abrogated the heterodimerization and secretion of luteinizing hormone. Treatment with human chorionic gonadotropin increased circulating testosterone, promoted virilization, and was associated with the appearance of normal spermatozoa in low concentrations. This case illustrates the important physiological role that luteinizing hormone plays in male sexual maturation and fertility.
Valdes-Socin
Hernán
H
Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Domaine du Sart-Tilman, Liege, Belgium.
Salvi
Roberto
R
Daly
Adrian F
AF
Gaillard
Rolf C
RC
Quatresooz
Pascale
P
Tebeu
Pierre-Marie
PM
Pralong
François P
FP
Beckers
Albert
A
D000328:Adult; D006063:Chorionic Gonadotropin / Q000494:pharmacology / Q000627:therapeutic use; D006801:Humans; D007006:Hypogonadism / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D007248:Infertility, Male / Q000188:drug therapy / Q000235:genetics; D037101:Luteinizing Hormone, beta Subunit / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D011628:Puberty, Delayed / Q000188:drug therapy / Q000235:genetics; D017422:Sequence Analysis, DNA; D013091:Spermatogenesis / Q000187:drug effects; D013737:Testis / Q000473:pathology; D013739:Testosterone / Q000097:blood
D006063:Chorionic Gonadotropin; D037101:Luteinizing Hormone, beta Subunit; D013739:Testosterone