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Abstract

The purpose of the study is to study the significance of the GNRH 1 gene polymorphism (rs 6185, rs1812594) in the development of idiopathic hypogonadotropic hypogonadism in boys and girls.

Keywords

idiopathic hypogonadism significance

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How to Cite
Mavlonov U.Kh, Urmanova Yu.M, Khudaybergenov Sh.A, & Khodzhaeva F.S. (2024). "The significance of the GNRH 1 gene polymorphism (rs 6185, rs1812594) in the development of idiopathic hypogonadotropic hypogonadism.". Texas Journal of Medical Science, 29, 8–15. https://doi.org/10.62480/tjms.2024.vol29.pp8-15
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References

  1. Gore AC. GnRH: The Master Molecule of Reproduction. //Boston: Kluwer Academic Publishers; 2002
  2. Crowe S, Cushing H, Homans J. Experimental hypophysectomy. //Bull Johns Hopkins Hospital. 1910; 21:127–167
  3. Harris GW. The induction of ovulation in the rabbit by electrical stimulation of the hypothalamo-hypophysial mechanism. //Proc R Soc Lond B Biol Sci. 1937; 122:374–394
  4. Hinsey JC. The relation of the nervous system to ovulation and other phenomena of the female reproductive tract. //Cold Spring Harbor Symp Quant Biol. 1937; 5:269–279.
  5. Brooks CM. A study of the mechanism whereby coitus excites the ovulation-producing activity of the rabbit's pituitary. //Am J Physiol. 1938; 121:157–177.
  6. Taubenhaus M, Soskin S. Release of luteinizing hormone from the anterior hypophysis by an acetylcholine-like substance from the hypothalamic region. Endocrinology. 1941; 29:958–968.
  7. Schally AV, et al. Isolation and properties of the FSH and LH-releasing hormone. //Biochem Biophys Res Comm. 1971; 43:393–399]
  8. Amoss M, et al. Purification, amino acid composition and N-terminus of the hypothalamic luteinizing hormone releasing factor (LRF) of ovine origin. //Biochem Biophys Res Commun. 1971; 44:205–210
  9. Gajdos ZK, Hirschhorn JN, Palmert MR. What controls the timing of puberty? An update on progress from genetic investigation. //Curr Opin Endocrinol Diabetes Obes. 2009; 16:16–24.
  10. Kim H-G, Bhagavath B, Layman LC. Clinical manifestations of impaired GnRH neuron development and function. //Neurosignals. 2008; 16:165–182
  11. Franco B, et al. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature. 1991; 353:529–536
  12. Legouis R, et al. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. //Cell. 1991; 67:423–435.
  13. Dodé C, et al. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. //Nat Genet. 2003; 33:463–465.
  14. Falardeau J, et al. Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. //J Clin Invest. 2008; 118:2822–2831
  15. Dodé C, et al. Kallmann syndrome: Mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. //PLoS Genet. 2006; 2:e175
  16. Kim HG, et al. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. //Am J Hum Genet. 2008; 83:511–519.
  17. Jackson RS, et al. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Nat Genet. 1997; 16:303–306.
  18. de Roux N, et al. Hypogonadotropic hypogonadism due to loss of function of the KiSS-1-derived peptide receptor GPR54. //Proc Natl Acad Sci USA. 2003; 100:10972–10976.
  19. Seminara SB, et al. The GPR54 gene as a regulator of puberty. //N Engl J Med. 2003; 349:1614–1627.
  20. de Roux N, et al. A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. //N Engl J Med. 1997; 337:1597–1602.
  21. Topaloglu AK, et al. TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. //Nat Genet. 2008; 41:354–358
  22. Cattanach BM, Iddon CA, Charlton HM, Chiappa SA, Fink G. Gonadotropin-releasing hormone deficiency in a mutant mouse with hypogonadism. //Nature. 1977; 269:338–340.
  23. Mason AJ, et al. A deletion truncating the gonadotropin-releasing hormone gene is responsible for hypogonadism in the hpg mouse. Science. 1986; 234:1366–1371
  24. Mason AJ, et al. The hypogonadal mouse: Reproductive functions restored by gene therapy. //Science. 1986; 234:1372–1378
  25. Tiong J, Locastro T, Wray S. Gonadotropin-releasing hormone-1 (GnRH-1) is involved in tooth maturation and biomineralization. //Dev Dyn. 2007; 236:2980–2992
  26. Chan YM, de Guillebon A, Lang-Muritano M, Plummer L, Cerrato F, Tsiaras S, Gaspert A, Lavoie HB, Wu CH, Crowley WF Jr, Amory JK, Pitteloud N, Seminara SB. GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. //Proc Natl Acad Sci U S A. 2009 Jul 14; 106(28):11703-8. doi: 10.1073/pnas.0903449106.