Fertility and Sterility
Volume 90, Issue 4 , Pages 1169-1174 , October 2008

Effects of follicle-stimulating hormone and human chorionic gonadotropin on gonadal steroidogenesis in two siblings with a follicle-stimulating hormone β subunit mutation

  • Adriana Lofrano-Porto, M.D.

      Affiliations

    • Section of Endocrinology, Department of Medicine, Faculty of Medicine, University Hospital of Brasilia, University of Brasilia, Brasília, DF, Brazil
    • Corresponding Author InformationReprint requests: Adriana Lofrano-Porto, M.D., SHIN QI 12 conjunto 02 casa 16, Lago Norte, Brasilia, DF, Brazil CEP 71525-220 (FAX: 55-61-3442-8367).
    • ,
  • Luiz Augusto Casulari, M.D.

      Affiliations

    • Section of Endocrinology, Department of Medicine, Faculty of Medicine, University Hospital of Brasilia, University of Brasilia, Brasília, DF, Brazil
    • ,
  • Paula P. Nascimento

      Affiliations

    • Section of Endocrinology, Department of Medicine, Faculty of Medicine, University Hospital of Brasilia, University of Brasilia, Brasília, DF, Brazil
    • ,
  • Leonardo Giacomini

      Affiliations

    • Section of Endocrinology, Department of Medicine, Faculty of Medicine, University Hospital of Brasilia, University of Brasilia, Brasília, DF, Brazil
    • ,
  • Luciana A. Naves, M.D.

      Affiliations

    • Section of Endocrinology, Department of Medicine, Faculty of Medicine, University Hospital of Brasilia, University of Brasilia, Brasília, DF, Brazil
    • ,
  • Lucilia Domingues Casulari da Motta, M.D.

      Affiliations

    • Section of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Faculty of Medicine, University Hospital of Brasilia, University of Brasilia, Brasília, DF, Brazil
    • ,
  • Lawrence C. Layman, M.D.

      Affiliations

    • Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Reproductive Medicine Program, Developmental Neurobiology Program, The Institute of Molecular Medicine and Genetics, The Neuroscience Program, Medical College of Georgia, Augusta, Georgia

Received 12 April 2007 ,Revised 22 July 2007 ,Accepted 23 July 2007.

References 

  1. Huhtaniemi IT, Themmen APN. Mutations in human gonadotropin and gonadotropin-receptor genes. Endocrine. 2005;26:207–217
  2. Huhtaniemi I. Mutations along the pituitary–gonadal axis affecting sexual maturation: novel information from transgenic and knockout mice. Mol Cell Endocrinol. 2006;254:84–90
  3. Matthews CH, Borgato S, Beck-Peccoz P, Adams M, Tone Y, Gambino G, et al. Primary amenorrhea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone. Nat Genet. 1993;5:83–86
  4. Layman LC, Lee EJ, Peak DB, Namnoum AB, Vu KV, van Lingen BL, 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
  5. Layman LC, Porto ALA, Xie J, da Motta LA, da Motta LCD, Weiser W, et al. FSHB 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
  6. Berger K, Souza H, Brito VN, d'Alva CB, Mendonca BB, Latronico AC. 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
  7. Barnes RB, Rosenfield RL, Namnoum A, Layman LC. Effect of follicle-stimulating hormone on ovarian androgen production in a woman with isolated follicle-stimulating hormone deficiency. N Engl J Med. 2000;343:1197–1198
  8. Barnes RB, Namnoum AB, Rosenfield RL, Layman LC. The role of LH and FSH in ovarian androgen secretion and ovarian follicular development: clinical studies in a patient with isolated FSH deficiency and multicystic ovaries. Hum Reprod. 2002;17:88–91
  9. Lindstedt G, Nystrom E, Matthews C, Ernest I, Janson PO, Chatterjee K. Follitropin (FSH) deficiency in an infertile male due to FSHB 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
  10. Phillip M, Arbelle JE, Segev Y, Parvari R. 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
  11. Tapanainen JS, Aittomaki K, Min J, Vaskivuo T, Huhtaniemi IT. Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility. Nat Genet. 1997;15:205–206
  12. Van Cauter E, Copinschi G. Human pituitary hormones: circadian and episodic variations. The Hague: Martinus Nijhoff; 1981;
  13. Carr BR. Disorders of the ovary and female reproductive tract. In:  Wilson JD,  Foster DW,  Kronenberg HM,  Larsen PR editor. Williams textbook of endocrinology. 9th ed.. Philadelphia: Saunders; 1998;p. 751–817
  14. Richards JS. Hormonal control of gene expression in the ovary. Endocrinol Rev. 1994;15:725–751
  15. Oktay K, Briggs D, Gosden RG. Ontogeny of follicle-stimulating hormone receptor gene expression in isolated human ovarian follicles. J Clin Endocrinol Metab. 1997;82:3748–3751
  16. Levalle O, Zylbersztein C, Aszpis S, Aquilano D, Terradas C, Colombani M, et al. Recombinant human follicle-stimulating hormone administration increases testosterone production in men, possibly by a Sertoli cell-secreted nonsteroid factor. J Clin Endocrinol Metab. 1998;83:3973–3976
  17. Krishnamurhty H, Kats R, Danilovich N, Javeshghani D, Sairam MR. Intercellular communication between Sertoli cells and Leydig cells in the absence of follicle-stimulating hormone-receptor signaling. Biol Reprod. 2001;65:1201–1207
  18. Young J, Couzinet B, Chanson P, Brailly S, Loumaye E, Schaison G. Effects of human recombinant luteinizing hormone and follicle-stimulating hormone in patients with acquired hypogonadotropic hypogonadism: study of Sertoli and Leydig cell secretions and interactions. J Clin Endocrinol Metab. 2000;85:3239–3244
  19. Piltonen T, Koivunen R, Ruokonen A, Tapanainen JS. Ovarian age-related responsiveness to human chorionic gonadotropin. J Clin Endocrinol Metab. 2003;88:3327–3332
  20. Kumar TR, Wang Y, Lu NF, Matzuk MM. Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility. Nat Genet. 1997;15:201–204
  21. Boujrad N, Ogwuegbu SO, Garnier M, Lee CH, Martin BM, Papadopoulos V. Identification of a stimulator of steroid hormone synthesis isolated from testis. Science. 1995;268:1609
  22. Jones TM, Fang VS, Landau RL, Rosenfield R. Direct inhibition of Leydig cell function by estradiol. J Clin Endocrinol Metab. 1978;47:1368–1373
  23. Carreau S, Lambard S, Delalande C, Denis-Galeraud I, Bilinska B, Bourguiba S. Aromatase expression and role of estrogens in male gonad: a review. Reprod Biol Endocrinol. 2003;1:35
  24. Smals AGH, Pieters GFFM, Drayer JIM, Boers GHJ, Benraad THJ, Kloppenborg PWC. Tamoxifen suppresses gonadotropin-induced 17α-hydroxyprogesterone accumulation in normal men. J Clin Endocrinol Metab. 1980;51:1026–1029

 Presented at the 27th Brazilian Congress of Endocrinology and Metabolism, Recife, PE, Brazil, September 6–9, 2006.

PII: S0015-0282(07)03009-9

doi: 10.1016/j.fertnstert.2007.07.1356

Fertility and Sterility
Volume 90, Issue 4 , Pages 1169-1174 , October 2008

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