title: Absence of follicle-stimulating hormone receptor activating mutations in women with iatrogenic ovarian hyperstimulation syndrome.
abstract: OBJECTIVE
  To analyze the FSH receptor gene in women with iatrogenic ovarian hyperstimulation syndrome (OHSS).
  
  
  METHODS
  Clinical and molecular studies.
  
  
  METHODS
  University hospital and private clinic.
  
  
  METHODS
  Twenty-nine women who developed moderate or severe OHSS after ovulation induction for IVF. In addition, 50 fertile normal women were used as controls.
  
  
  METHODS
  Peripheral blood was used for DNA extraction. The exons 4, 7, 9, and 10 of the FSH receptor gene were amplified by polymerase chain reaction (PCR) followed by automatic direct sequencing.
  
  
  METHODS
  Hormonal results and automatic sequencing analysis.
  
  
  RESULTS
  Thirteen patients developed moderate OHSS and 16 patients developed the severe form of the syndrome. Automatic sequencing revealed no activating mutations in all patients studied. We found two known polymorphisms in linkage disequilibrium, Ala307Thr and Ser680Asn, in 79.3% of the patients (44.8% in heterozygous and 34.5% in homozygous state). These polymorphisms were found with similar frequency in the 50 normal fertile women.
  
  
  CONCLUSIONS
  We conclude that the FSH receptor genotype did not play a significant role in the risk of iatrogenic OHSS in this cohort.
authors.affiliation: Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Hospital das Clinicas, Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Catarina Brasil
authors.initials: CB
authors.lastname: d'Alva
authors.forename: Paulo
authors.initials: P
authors.lastname: Serafini
authors.forename: Eduardo
authors.initials: E
authors.lastname: Motta
authors.forename: Maria Beatriz da Fonte
authors.initials: MB
authors.lastname: Kohek
authors.forename: Ana Claudia
authors.initials: AC
authors.lastname: Latronico
authors.forename: Berenice Bilharinho
authors.initials: BB
authors.lastname: Mendonca
mesh_terms: D000293:Adolescent; D000328:Adult; D016009:Chi-Square Distribution; D005260:Female; D005786:Gene Expression Regulation / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D007049:Iatrogenic Disease; D015810:Linkage Disequilibrium / Q000235:genetics; D009154:Mutation; D016017:Odds Ratio; D016471:Ovarian Hyperstimulation Syndrome / Q000235:genetics* / Q000378:metabolism*; D010062:Ovulation Induction / Q000379:methods; D011962:Receptors, FSH / Q000235:genetics* / Q000378:metabolism*; D012189:Retrospective Studies
chemical_list: D011962:Receptors, FSH