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FSH BETA-SUBUNIT MUTATIONS IN TWO SISTERS

FSH β-subunit mutations in two sisters: the first report from the Indian sub-continent and review of previous cases

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Pages 290-293 | Received 22 Apr 2018, Accepted 24 Sep 2018, Published online: 02 Jan 2019

References

  • Amato LG, Latronico AC, Silveira LF. Molecular and genetic aspects of congenital isolated hypogonadotropic hypogonadism. Endocrinol Metab Clin. 2017;46:283–303.
  • Laue L, Wu SM, Kudo M, et al. A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia. Hum Mol Genet. 1995;4:1429–1433.
  • Aittomaki K, Lucena JL, Pakarinen P, et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell. 1995;82:959–968.
  • Zheng J, Mao J, Cui M, et al. Novel FSHβ mutation in a male patient with isolated FSH deficiency and infertility. Eur J Med Genet. 2017;60:335–339.
  • Jameson JL, Becker CB, Lindell CM, et al. Human follicle-stimulating hormone β-subunit gene encodes multiple messenger ribonucleic acids. Mol Endocrinol. 1988;2:806–815.
  • Leung PC, Armstrong DT. Interactions of steroids and gonadotropins in the control of steroidogenesis in the ovarian follicle. Annu Rev Physiol. 1980;42:71–82.
  • Layman LC, McDonough PG. Mutations of the follicle stimulating hormone-beta and its receptor in human and mouse: phenotype/genotype. Mol Cell Endocrinol. 2000;161:9–12.
  • Matthews CH, Borgato S, Beck-Peccoz P, et al. Primary amenorrhea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone. Nat Genet. 1993;5:83–86.
  • Layman LC, Lee EJ, Peak DB, et al. Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene. N Engl J Med. 1997;337:607–611.
  • Matthews C, Chatterjee VK. Isolated deficiency of follicle-stimulating hormone re-revisited. N Engl J Med. 1997;337:642.
  • Layman LC, Porto AL, Xie J, et al. FSH beta gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia. J Clin Endocrinol Metab. 2002;87:3702–3707.
  • Berger K, Souza H, Brito VN, et al. Clinical and hormonal features of selective follicle-stimulating hormone (FSH) deficiency due to FSH beta-subunit gene mutations in both sexes. Fertil Steril. 2005;83:466–470.
  • Kottler ML, Chou YY, Chabre O, et al. A new FSH β mutation in a 29-year-old woman with primary amenorrhea and isolated FSH deficiency:functional characterization and ovarian response to human recombinant FSH. Eur J Endocrinol. 2010;162:633–641.
  • Phillip M, Arbelle JE, Segev Y, et al. Male hypogonadism due to a mutation in the gene for the beta-subunit of follicle-stimulating hormone. N Engl J Med. 1998; 338:1729–1732.
  • Lindstedt G, Nystrom E, Matthews C, et al. Follitropin (FSH) deficiency in an infertile male due to FSH beta-gene mutation. A syndrome of normal puberty and virilization but underdeveloped testicles with azoospermia, low FSH but high lutropin and normal serum testosterone concentrations. Clin Chem Lab Med. 1998;36:663–665.
  • Şimşek E, Montenegro LR, Binay C, et al. Clinical and hormonal features of a male adolescent with congenital isolated Follicle-Stimulating hormone deficiency. Horm Res Paediatr. 2016;85:207–212.

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