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Updated: May 6, 2026

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
Published on: September 4, 2011
Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene
Hernán Valdes-Socin1, Roberto Salvi, Adrian F Daly
1Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Domaine du Sart-Tilman, Liege, Belgium.
Abstract:
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.
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