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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

The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism.
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
Differential diagnosis of male central hypogonadism by short-term pulsatile LHRH administration.
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

Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism.
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
Approach to the male patient with congenital hypogonadotropic hypogonadism.
Young J
J Clin Endocrinol Metab 2012 Mar;97(3):707-18. doi: 10.1210/jc.2011-1664. PMID: 22392951
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.
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
Reversal of idiopathic hypogonadotropic hypogonadism.
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
Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism.
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

Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism.
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
Kallmann Syndrome with Syndactyly.
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
Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism.
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
Approach to the male patient with congenital hypogonadotropic hypogonadism.
Young J
J Clin Endocrinol Metab 2012 Mar;97(3):707-18. doi: 10.1210/jc.2011-1664. PMID: 22392951
Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism.
Beranova M, Oliveira LM, Bédécarrats GY, Schipani E, Vallejo M, Ammini AC, Quintos JB, Hall JE, Martin KA, Hayes FJ, Pitteloud N, Kaiser UB, Crowley WF Jr, Seminara SB
J Clin Endocrinol Metab 2001 Apr;86(4):1580-8. doi: 10.1210/jcem.86.4.7395. PMID: 11297587

Therapy

Classes and predictors of reversal in male patients with congenital hypogonadotropic hypogonadism: a cross-sectional study of six international referral centres.
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
Approach to the male patient with congenital hypogonadotropic hypogonadism.
Young J
J Clin Endocrinol Metab 2012 Mar;97(3):707-18. doi: 10.1210/jc.2011-1664. PMID: 22392951
Reversal of idiopathic hypogonadotropic hypogonadism.
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
Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene.
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
Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism.
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

Classes and predictors of reversal in male patients with congenital hypogonadotropic hypogonadism: a cross-sectional study of six international referral centres.
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
Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations.
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
Reversal of idiopathic hypogonadotropic hypogonadism.
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
Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism.
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

Classes and predictors of reversal in male patients with congenital hypogonadotropic hypogonadism: a cross-sectional study of six international referral centres.
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
Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism.
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
Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations.
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
Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism.
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
The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review.
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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