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Xu, C. Kallmann Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4419 (accessed on 25 September 2026).
Xu C. Kallmann Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4419. Accessed September 25, 2026.
Xu, Camila. "Kallmann Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4419 (accessed September 25, 2026).
Xu, C. (2020, December 23). Kallmann Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4419
Xu, Camila. "Kallmann Syndrome." Encyclopedia. Web. 23 December, 2020.
Kallmann Syndrome
Edit

Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell.

genetic conditions

References

  1. Balasubramanian R, Crowley WF Jr. Isolated Gonadotropin-Releasing Hormone(GnRH) Deficiency. 2007 May 23 [updated 2017 Mar 2]. In: Adam MP, Ardinger HH,Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK1334/
  2. Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA,Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T,Tena-Sempere M, Quinton R, Young J. Expert consensus document: European ConsensusStatement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosisand treatment. Nat Rev Endocrinol. 2015 Sep;11(9):547-64. doi:10.1038/nrendo.2015.112.
  3. Costa-Barbosa FA, Balasubramanian R, Keefe KW, Shaw ND, Al-Tassan N, PlummerL, Dwyer AA, Buck CL, Choi JH, Seminara SB, Quinton R, Monies D, Meyer B, HallJE, Pitteloud N, Crowley WF Jr. Prioritizing genetic testing in patients withKallmann syndrome using clinical phenotypes. J Clin Endocrinol Metab. 2013May;98(5):E943-53. doi: 10.1210/jc.2012-4116.
  4. Dodé C, Levilliers J, Dupont JM, De Paepe A, Le Dû N, Soussi-Yanicostas N,Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pêcheux C, Le Tessier D,Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML,Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP.Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.Nat Genet. 2003 Apr;33(4):463-5.
  5. Dodé C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML,Lespinasse J, Lienhardt-Roussie A, Mathieu M, Moerman A, Morgan G, Murat A,Toublanc JE, Wolczynski S, Delpech M, Petit C, Young J, Hardelin JP. Kallmannsyndrome: mutations in the genes encoding prokineticin-2 and prokineticinreceptor-2. PLoS Genet. 2006 Oct 20;2(10):e175.
  6. Kim SH. Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future. Endocrinol Metab (Seoul). 2015 Dec;30(4):456-66. doi:10.3803/EnM.2015.30.4.456. Review.
  7. Topaloglu AK, Kotan LD. Genetics of Hypogonadotropic Hypogonadism. Endocr Dev.2016;29:36-49. doi: 10.1159/000438841.
  8. Valdes-Socin H, Rubio Almanza M, Tomé Fernández-Ladreda M, Debray FG, Bours V,Beckers A. Reproduction, smell, and neurodevelopmental disorders: genetic defectsin different hypogonadotropic hypogonadal syndromes. Front Endocrinol (Lausanne).2014 Jul 9;5:109. doi: 10.3389/fendo.2014.00109.
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