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Allen, L.A., Achermann, J.C., Pakarinen, P., Kotlar, T.J., Huhtaniemi, I.T., Jameson, J.L., et al. (2003) A Novel Loss of Function Mutation in Exon 10 of the FSH Receptor Gene Causing Hypergonadotrophic Hypogonadism: Clinical and Molecular Characteristics. Human Reproduction, 18, 251-256.
https://doi.org/10.1093/humrep/deg046

has been cited by the following article:

• TITLE: Fertility Preservation in Premature Ovarian Insufficiency (POI) Secondary to FSH Receptor Gene (FSHR) Mutation: Is There a New Hope?

  AUTHORS: Pierre-Antoine Pradervand, Roland Antaki, Simon Phillips, C. Sylvestre, Zaki El Haffaf, Ariane Godbout, Isaac Jacques Kadoch, Pierre Lehmann

  KEYWORDS: FSH Receptor Mutation, Fertility Preservation, in Vitro Maturation, AMH, Primary Ovarian Insufficiency

  JOURNAL NAME: Case Reports in Clinical Medicine, Vol.6 No.10, October 23, 2017

  ABSTRACT: A 19 years old patient with primary amenorrhea was referred to our center. Based on discrepancy between high follicle stimulating hormone (FSH) level and normal ovarian reserve parameters, follicle stimulating hormone receptor (FSHR) mutation was screened. The patient was homozygous in exon 6 of the FSHR gene for the new variant c.479T > C and predicted to result in an aminoacid substitution p.Ile160Thr. One year later, her anti-müllerian hormone (AMH) level inexplicably decreased. Oocyte vitrification was thus offered for fertility preservation. After 17 days of recombinant follicle stimulating hormone (recFSH) (900 IU daily), no follicular growth was seen and estradiol levels remained low. In vitro maturation (IVM) was then suggested. Ten oocytes were successfully vitrified.