Follicle-stimulating hormone receptor polymorphism affects the outcome of ovulation induction in normogonadotropic (World Health Organization class 2) anovulatory subfertility

Fertil Steril. 2015 Apr;103(4):1081-1088.e3. doi: 10.1016/j.fertnstert.2015.01.002. Epub 2015 Feb 24.

Abstract

Objective: To assess whether an FSH receptor polymorphism (Asn680Ser, rs6166) can affect the outcome of ovulation induction in normogonadotropic (World Health Organization class 2 [WHO2]) anovulatory subfertile women.

Design: Prospective, longitudinal, cohort study.

Setting: University-based fertility unit.

Patient(s): A total of 240 consecutive women diagnosed with WHO2 anovulatory subfertility who underwent ovulation induction therapy. Results were replicated in a retrospective cohort of 185 patients with polycystic ovary syndrome (PCOS) (Rotterdam criteria).

Intervention(s): Ovulation induction using clomiphene citrate (CC) as first-line and exogenous gonadotropins (exFSH) as second-line therapy.

Main outcome measure(s): Clomiphene-resistant anovulation (CRA), clomiphene failure (CCF), and ongoing pregnancy rate.

Result(s): Genotyped patients (n = 159) were similar to nongenotyped women (n = 81) regarding clinical characteristics and outcomes of ovulation induction. The 680(Ser) allele was associated with CRA. A pooled analysis of both cohorts showed an 89% higher chance of CRA after CC treatment (odds ratio 1.9 [95% confidence interval 1.1-3.3]) in homozygous carriers of the FSH receptor variant (680(Ser/Ser)). A lower chance of ongoing pregnancy (hazard ratio 0.51 [95% confidence interval 0.27-0.98]) was observed among these patients during CC treatment in the prospective cohort.

Conclusion(s): An FSH receptor polymorphism is associated with CRA during treatment with clomiphene citrate. These data may be used to design a treatment algorithm that is more efficacious and better tailored to the individual patient.

Keywords: FSHR; WHO2; ovulation induction; polymorphism; rs6166.

MeSH terms

  • Adult
  • Anovulation / classification
  • Anovulation / genetics*
  • Anovulation / therapy*
  • Clomiphene / therapeutic use
  • Drug Resistance / genetics
  • Female
  • Fertility Agents, Female / therapeutic use
  • Humans
  • Infertility, Female / classification
  • Infertility, Female / genetics*
  • Infertility, Female / therapy*
  • Ovulation Induction*
  • Polycystic Ovary Syndrome / genetics
  • Polycystic Ovary Syndrome / therapy
  • Polymorphism, Single Nucleotide*
  • Pregnancy
  • Receptors, FSH / genetics*
  • Retrospective Studies
  • Treatment Outcome
  • World Health Organization
  • Young Adult

Substances

  • Fertility Agents, Female
  • Receptors, FSH
  • Clomiphene