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Hypogonadotropic hypogonadism 14 with anosmia

MedGen UID:
865402
•Concept ID:
C4016965
•
Finding
Synonym: HYPOGONADOTROPIC HYPOGONADISM 14 WITH ANOSMIA
 
OMIM®: 606417

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
The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.
Oliveira LM, Seminara SB, Beranova M, Hayes FJ, Valkenburgh SB, Schipani E, Costa EM, Latronico AC, Crowley WF Jr, Vallejo M
J Clin Endocrinol Metab 2001 Apr;86(4):1532-8. doi: 10.1210/jcem.86.4.7420. PMID: 11297579
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
Pediatric anosmia: A case series.
Hauser LJ, Jensen EL, Mirsky DM, Chan KH
Int J Pediatr Otorhinolaryngol 2018 Jul;110:135-139. Epub 2018 May 17 doi: 10.1016/j.ijporl.2018.05.011. PMID: 29859575
Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.
Sidhoum VF, Chan YM, Lippincott MF, Balasubramanian R, Quinton R, Plummer L, Dwyer A, Pitteloud N, Hayes FJ, Hall JE, Martin KA, Boepple PA, Seminara SB
J Clin Endocrinol Metab 2014 Mar;99(3):861-70. Epub 2013 Jan 1 doi: 10.1210/jc.2013-2809. PMID: 24423288Free PMC Article
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N
Am J Hum Genet 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008. PMID: 23643382Free 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

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
Central hypogonadism in Klinefelter syndrome: report of two cases and review of the literature.
Cangiano B, Indirli R, Profka E, Castellano E, Goggi G, Vezzoli V, Mantovani G, Arosio M, Persani L, Borretta G, Ferrante E, Bonomi M
J Endocrinol Invest 2021 Mar;44(3):459-470. Epub 2020 Jun 14 doi: 10.1007/s40618-020-01324-3. PMID: 32537678
Pediatric anosmia: A case series.
Hauser LJ, Jensen EL, Mirsky DM, Chan KH
Int J Pediatr Otorhinolaryngol 2018 Jul;110:135-139. Epub 2018 May 17 doi: 10.1016/j.ijporl.2018.05.011. PMID: 29859575
Hypogonadotropic hypogonadism in a female patient with congenital arhinia.
Hunter JD, Davis MA, Law JR
J Pediatr Endocrinol Metab 2017 Jan 1;30(1):101-104. doi: 10.1515/jpem-2016-0082. PMID: 27941181
Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.
Sidhoum VF, Chan YM, Lippincott MF, Balasubramanian R, Quinton R, Plummer L, Dwyer A, Pitteloud N, Hayes FJ, Hall JE, Martin KA, Boepple PA, Seminara SB
J Clin Endocrinol Metab 2014 Mar;99(3):861-70. Epub 2013 Jan 1 doi: 10.1210/jc.2013-2809. PMID: 24423288Free PMC Article

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
Flavor perception test: evaluation in patients with Kallmann syndrome.
Maione L, Cantone E, Nettore IC, Cerbone G, De Brasi D, Maione N, Young J, Di Somma C, Sinisi AA, Iengo M, Macchia PE, Pivonello R, Colao A
Endocrine 2016 May;52(2):236-43. Epub 2015 Jul 25 doi: 10.1007/s12020-015-0690-y. PMID: 26209039
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
Quantitative magnetic resonance imaging evaluation of the olfactory system in Kallmann syndrome: correlation with a clinical smell test.
Koenigkam-Santos M, Santos AC, Versiani BR, Diniz PR, Junior JE, de Castro M
Neuroendocrinology 2011;94(3):209-17. Epub 2011 May 21 doi: 10.1159/000328437. PMID: 21606642
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

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
Central hypogonadism in Klinefelter syndrome: report of two cases and review of the literature.
Cangiano B, Indirli R, Profka E, Castellano E, Goggi G, Vezzoli V, Mantovani G, Arosio M, Persani L, Borretta G, Ferrante E, Bonomi M
J Endocrinol Invest 2021 Mar;44(3):459-470. Epub 2020 Jun 14 doi: 10.1007/s40618-020-01324-3. PMID: 32537678
Hypogonadotropic hypogonadism in a female patient with congenital arhinia.
Hunter JD, Davis MA, Law JR
J Pediatr Endocrinol Metab 2017 Jan 1;30(1):101-104. doi: 10.1515/jpem-2016-0082. PMID: 27941181
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N
Am J Hum Genet 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008. PMID: 23643382Free PMC Article
Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature.
Persson JW, Humphrey K, Watson C, Taylor P, Leigh D, McDonald B, Fraser IS
Hum Reprod 1999 May;14(5):1207-12. doi: 10.1093/humrep/14.5.1207. PMID: 10325262

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
Flavor perception test: evaluation in patients with Kallmann syndrome.
Maione L, Cantone E, Nettore IC, Cerbone G, De Brasi D, Maione N, Young J, Di Somma C, Sinisi AA, Iengo M, Macchia PE, Pivonello R, Colao A
Endocrine 2016 May;52(2):236-43. Epub 2015 Jul 25 doi: 10.1007/s12020-015-0690-y. PMID: 26209039
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N
Am J Hum Genet 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008. PMID: 23643382Free PMC Article
Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism.
Versiani BR, Trarbach E, Koenigkam-Santos M, Dos Santos AC, Elias LL, Moreira AC, Latronico AC, de Castro M
Clin Endocrinol (Oxf) 2007 Feb;66(2):173-9. doi: 10.1111/j.1365-2265.2006.02702.x. PMID: 17223984

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