Hypogonadism in a Patient with a Mutation in the Luteinizing Hormone Beta-Subunit Gene | Zendy

H. ValdesSocin | Zendy; Roberto Salvi | Zendy; Adrian Daly | Zendy; Rolf C. Gaillard | Zendy; Pascale Quatresooz | Zendy; Pierre Marie Tebeu | Zendy; François Pralong | Zendy; Albert Beckers | Zendy

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Hypogonadism in a Patient with a Mutation in the Luteinizing Hormone Beta-Subunit Gene

Author(s) -

H. ValdesSocin,

Roberto Salvi,

Adrian Daly,

Rolf C. Gaillard,

Pascale Quatresooz,

Pierre Marie Tebeu,

François Pralong,

Albert Beckers

Publication year - 2004

Publication title -

new england journal of medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 19.889

H-Index - 1030

eISSN - 1533-4406

pISSN - 0028-4793

DOI - 10.1056/nejmoa040326

Subject(s) - luteinizing hormone , endocrinology , missense mutation , medicine , virilization , infertility , human chorionic gonadotropin , hormone , testosterone (patch) , gonadotropic cell , gonadotropin , mutation , biology , gene , genetics , androgen , pregnancy

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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