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