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Hypogonadotropic hypogonadism 18 with anosmia

MedGen UID:
865420
Concept ID:
C4016983
Finding
Synonym: HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA
 
OMIM®: 606807

Professional guidelines

PubMed

Pitteloud N, Hayes FJ, Boepple PA, DeCruz S, Seminara SB, MacLaughlin DT, Crowley WF Jr
J Clin Endocrinol Metab 2002 Jan;87(1):152-60. doi: 10.1210/jcem.87.1.8131. PMID: 11788640
Sippell WG, Hermanussen M, Partsch J
Ups J Med Sci 1984;89(1):61-5. doi: 10.3109/03009738409178464. PMID: 6377643

Recent clinical studies

Etiology

Aung Y, Kokotsis V, Yin KN, Banerjee K, Butler G, Dattani MT, Dimitri P, Dunkel L, Hughes C, McGuigan M, Korbonits M, Paltoglou G, Sakka S, Shah P, Storr HL, Willemsen RH, Howard SR
Front Endocrinol (Lausanne) 2023;14:1226839. Epub 2023 Aug 28 doi: 10.3389/fendo.2023.1226839. PMID: 37701896Free PMC Article
Young J
J Clin Endocrinol Metab 2012 Mar;97(3):707-18. doi: 10.1210/jc.2011-1664. PMID: 22392951
Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF Jr, Hoefsloot LH
Clin Genet 2009 Jan;75(1):65-71. Epub 2008 Nov 17 doi: 10.1111/j.1399-0004.2008.01107.x. PMID: 19021638Free PMC Article
Raivio T, Falardeau J, Dwyer A, Quinton R, Hayes FJ, Hughes VA, Cole LW, Pearce SH, Lee H, Boepple P, Crowley WF Jr, Pitteloud N
N Engl J Med 2007 Aug 30;357(9):863-73. doi: 10.1056/NEJMoa066494. PMID: 17761590
Pitteloud N, Hayes FJ, Dwyer A, Boepple PA, Lee H, Crowley WF Jr
J Clin Endocrinol Metab 2002 Sep;87(9):4128-36. doi: 10.1210/jc.2002-020518. PMID: 12213860

Diagnosis

Aung Y, Kokotsis V, Yin KN, Banerjee K, Butler G, Dattani MT, Dimitri P, Dunkel L, Hughes C, McGuigan M, Korbonits M, Paltoglou G, Sakka S, Shah P, Storr HL, Willemsen RH, Howard SR
Front Endocrinol (Lausanne) 2023;14:1226839. Epub 2023 Aug 28 doi: 10.3389/fendo.2023.1226839. PMID: 37701896Free PMC Article
Kassidi F, Boujoual M, Hassani MEME
J Coll Physicians Surg Pak 2019 Dec;29(12):S101-S102. doi: 10.29271/jcpsp.2019.12.S101. PMID: 31779756
Aoyama K, Mizuno H, Tanaka T, Togawa T, Negishi Y, Ohashi K, Hori I, Izawa M, Hamajima T, Saitoh S
J Pediatr Endocrinol Metab 2017 Oct 26;30(10):1111-1118. doi: 10.1515/jpem-2017-0035. PMID: 28915117
Xu H, Niu Y, Wang T, Liu S, Xu H, Wang S, Liu J, Ye Z
Biomed Res Int 2015;2015:649698. Epub 2015 Jun 25 doi: 10.1155/2015/649698. PMID: 26199944Free PMC Article
Young J
J Clin Endocrinol Metab 2012 Mar;97(3):707-18. doi: 10.1210/jc.2011-1664. PMID: 22392951

Therapy

Dwyer AA, McDonald IR, Cangiano B, Giovanelli L, Maione L, Silveira LFG, Raivio T, Latronico AC, Young J, Quinton R, Bonomi M, Persani L, Seminara SB, Lee CS
Lancet Diabetes Endocrinol 2024 Apr;12(4):257-266. Epub 2024 Mar 1 doi: 10.1016/S2213-8587(24)00028-7. PMID: 38437850Free PMC Article
Young J
J Clin Endocrinol Metab 2012 Mar;97(3):707-18. doi: 10.1210/jc.2011-1664. PMID: 22392951
Raivio T, Falardeau J, Dwyer A, Quinton R, Hayes FJ, Hughes VA, Cole LW, Pearce SH, Lee H, Boepple P, Crowley WF Jr, Pitteloud N
N Engl J Med 2007 Aug 30;357(9):863-73. doi: 10.1056/NEJMoa066494. PMID: 17761590
Pitteloud N, Acierno JS Jr, Meysing AU, Dwyer AA, Hayes FJ, Crowley WF Jr
J Clin Endocrinol Metab 2005 Mar;90(3):1317-22. Epub 2004 Dec 21 doi: 10.1210/jc.2004-1361. PMID: 15613419
Pitteloud N, Hayes FJ, Dwyer A, Boepple PA, Lee H, Crowley WF Jr
J Clin Endocrinol Metab 2002 Sep;87(9):4128-36. doi: 10.1210/jc.2002-020518. PMID: 12213860

Prognosis

Dwyer AA, McDonald IR, Cangiano B, Giovanelli L, Maione L, Silveira LFG, Raivio T, Latronico AC, Young J, Quinton R, Bonomi M, Persani L, Seminara SB, Lee CS
Lancet Diabetes Endocrinol 2024 Apr;12(4):257-266. Epub 2024 Mar 1 doi: 10.1016/S2213-8587(24)00028-7. PMID: 38437850Free PMC Article
Laitinen EM, Tommiska J, Sane T, Vaaralahti K, Toppari J, Raivio T
PLoS One 2012;7(6):e39450. Epub 2012 Jun 19 doi: 10.1371/journal.pone.0039450. PMID: 22724017Free PMC Article
Raivio T, Falardeau J, Dwyer A, Quinton R, Hayes FJ, Hughes VA, Cole LW, Pearce SH, Lee H, Boepple P, Crowley WF Jr, Pitteloud N
N Engl J Med 2007 Aug 30;357(9):863-73. doi: 10.1056/NEJMoa066494. PMID: 17761590
Pitteloud N, Hayes FJ, Dwyer A, Boepple PA, Lee H, Crowley WF Jr
J Clin Endocrinol Metab 2002 Sep;87(9):4128-36. doi: 10.1210/jc.2002-020518. PMID: 12213860

Clinical prediction guides

Dwyer AA, McDonald IR, Cangiano B, Giovanelli L, Maione L, Silveira LFG, Raivio T, Latronico AC, Young J, Quinton R, Bonomi M, Persani L, Seminara SB, Lee CS
Lancet Diabetes Endocrinol 2024 Apr;12(4):257-266. Epub 2024 Mar 1 doi: 10.1016/S2213-8587(24)00028-7. PMID: 38437850Free PMC Article
Aung Y, Kokotsis V, Yin KN, Banerjee K, Butler G, Dattani MT, Dimitri P, Dunkel L, Hughes C, McGuigan M, Korbonits M, Paltoglou G, Sakka S, Shah P, Storr HL, Willemsen RH, Howard SR
Front Endocrinol (Lausanne) 2023;14:1226839. Epub 2023 Aug 28 doi: 10.3389/fendo.2023.1226839. PMID: 37701896Free PMC Article
Laitinen EM, Tommiska J, Sane T, Vaaralahti K, Toppari J, Raivio T
PLoS One 2012;7(6):e39450. Epub 2012 Jun 19 doi: 10.1371/journal.pone.0039450. PMID: 22724017Free PMC Article
Bergman JE, Bosman EA, van Ravenswaaij-Arts CM, Steel KP
Eur J Hum Genet 2010 Feb;18(2):171-7. Epub 2009 Oct 7 doi: 10.1038/ejhg.2009.158. PMID: 19809474Free PMC Article
White BJ, Rogol AD, Brown KS, Lieblich JM, Rosen SW
Am J Med Genet 1983 Jul;15(3):417-35. doi: 10.1002/ajmg.1320150307. PMID: 6881209

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