title: Screening of the mutations in luteinizing hormone beta-subunit in patients with menstrual disorders.
abstract: OBJECTIVE
  To evaluate the clinical significance of the LH consisting of a mutant beta-subunit (Trp8 to Arg8 and Ile15 to Thr15).
  
  
  METHODS
  Clinical and biochemical studies.
  
  
  METHODS
  Fertility center at the University Hospital and its research laboratory.
  
  
  METHODS
  Fifty-one patients with menstrual disorders and three homozygote cases and two heterozygote cases of the mutant LH who were reported previously.
  
  
  METHODS
  Nucleotide mutations of the LH beta gene in patients with menstrual disorders were screened using techniques of the polymerase chain reaction and restriction fragment length polymorphism. Immunologic and biologic activities of the mutant LH and endocrinologic profiles in the affected women were evaluated.
  
  
  METHODS
  Serum LH levels measured with different immunoassay kits; serum FSH and LH on the GnRH test; serum thyroid-stimulating hormone, PRL, T, and androstenedione; ultrasound examination of the ovaries; clinical hyperandrogenic symptoms; and biologic activity of LH.
  
  
  RESULTS
  Two cases of homozygotes and four of heterozygotes affected by the LH beta gene mutations were discovered in the current study through screening of patients with menstrual disorders. Serum LH levels in the homozygote cases were undetectable using a LH immunoassay kit, whereas levels in the heterozygote cases showed reduced detectability with the kit. However, the ratio of the mutant LH values in the bioassay to those in the immunoassay was higher in the homozygote group than that in the control subjects. Response patterns of serum gonadotropins to GnRH in the homozygote were similar to those in patients with polycystic ovary syndrome.
  
  
  CONCLUSIONS
  The mutations of LH beta-subunit might be related to menstrual disorder in some patients.
authors.affiliation: Department of Obstetrics and Gynecology, Nagoya University School of Medicine, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Suganuma
authors.forename: K
authors.initials: K
authors.lastname: Furui
authors.forename: M
authors.initials: M
authors.lastname: Furuhashi
authors.forename: Y
authors.initials: Y
authors.lastname: Asada
authors.forename: F
authors.initials: F
authors.lastname: Kikkawa
authors.forename: Y
authors.initials: Y
authors.lastname: Tomoda
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D007987:Gonadotropin-Releasing Hormone; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007118:Immunoassay; D007986:Luteinizing Hormone / Q000097:blood / Q000235:genetics*; D008599:Menstruation Disturbances / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D011085:Polycystic Ovary Syndrome / Q000097:blood; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011388:Prolactin / Q000097:blood
chemical_list: D007987:Gonadotropin-Releasing Hormone; D011388:Prolactin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone