• PMID: 14709845
• Gene Name: LHB
• Condition: Infertility
• Association: This study suggests that homozygous mutation of LH beta (Trp8Arg, Ile15Thr) may be a possible cause of fertile eunuch syndrome
• PMID: 14709845
• Gene Name: LHB
• Condition: Fertile eunuch syndrome
• Association: To our knowledge, this is the first case of fertile eunuch syndrome with homozygous Trp (8) Arg and Ile (15) Thr mutations in beta subunit of LH gene.
• Mutation: Trp8Arg and Ile15Thr mutations in the LH beta subunit gene
• Population size: 1
• Population details: 1 Fertile eunuch syndrome
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Fertile eunuch syndrome

Fertile eunuch syndrome with the mutations (Trp8Arg and Ile15Thr) in the beta subunit of luteinizing hormone

Shiraishi K, Naito K.

Fertile eunuch syndrome is caused by isolated LH deficiency, but its pathophysiology still remains controversial. We report a case of fertile eunuch syndrome with homozygous Trp8Arg and Ile15Thr mutations in the LH beta subunit gene. An 18-year-old man was admitted to our hospital for hypogonadism. Examination of genitalia revealed Tanner G1PH1, whereas both testes were elastically palpated and developed up to 18 ml. Endocrinological evaluations revealed normogonadotropic hypogonadism and there were normal responses after GnRH and hCG stimulation. Intratesticular testosterone concentration was almost normal (1.34 x 10(3) ng/g). By PCR direct sequencing, homozygous Trp (8) Arg and Ile (15) Thr mutations in exon 2 of LH beta were detected. Normal virilization and improved semen parameters were achieved after hCG supplementation. To our knowledge, this is the first case of fertile eunuch syndrome with homozygous Trp (8) Arg and Ile (15) Thr mutations in beta subunit of LH gene. FAU - Shiraishi, Koji AU - Shiraishi K AD - Department of Urology, Yamaguchi University School of Medicine, Ube, Yamaguchi, Japan.