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Hypogonadotropic hypogonadism 8 without anosmia

MedGen UID:
865312
•Concept ID:
C4016875
•
Finding
Synonym: HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA
 
OMIM®: 604161

Professional guidelines

PubMed

Kallmann syndrome: Diagnostics and management.
Kumar Yadav R, Qi B, Wen J, Gang X, Banerjee S
Clin Chim Acta 2025 Jan 15;565:119994. Epub 2024 Oct 9 doi: 10.1016/j.cca.2024.119994. PMID: 39384129
Kallmann syndrome in women: from genes to diagnosis and treatment.
Meczekalski B, Podfigurna-Stopa A, Smolarczyk R, Katulski K, Genazzani AR
Gynecol Endocrinol 2013 Apr;29(4):296-300. Epub 2013 Jan 31 doi: 10.3109/09513590.2012.752459. PMID: 23368665
Congenital hypogonadotropic hypogonadism in females: clinical spectrum, evaluation and genetics.
Bry-Gauillard H, Trabado S, Bouligand J, Sarfati J, Francou B, Salenave S, Chanson P, Brailly-Tabard S, Guiochon-Mantel A, Young J
Ann Endocrinol (Paris) 2010 May;71(3):158-62. Epub 2010 Apr 3 doi: 10.1016/j.ando.2010.02.024. PMID: 20363464

Recent clinical studies

Etiology

Kallmann syndrome: Diagnostics and management.
Kumar Yadav R, Qi B, Wen J, Gang X, Banerjee S
Clin Chim Acta 2025 Jan 15;565:119994. Epub 2024 Oct 9 doi: 10.1016/j.cca.2024.119994. PMID: 39384129
Rhinencephalon changes in tuberous sclerosis complex.
Manara R, Brotto D, Bugin S, Pelizza MF, Sartori S, Nosadini M, Azzolini S, Iaconetta G, Parazzini C, Murgia A, Peron A, Canevini P, Labriola F, Vignoli A, Toldo I
Neuroradiology 2018 Aug;60(8):813-820. Epub 2018 Jun 17 doi: 10.1007/s00234-018-2045-x. PMID: 29909560
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
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
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

Diagnosis

Kallmann syndrome: Diagnostics and management.
Kumar Yadav R, Qi B, Wen J, Gang X, Banerjee S
Clin Chim Acta 2025 Jan 15;565:119994. Epub 2024 Oct 9 doi: 10.1016/j.cca.2024.119994. PMID: 39384129
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
Kallmann syndrome in women: from genes to diagnosis and treatment.
Meczekalski B, Podfigurna-Stopa A, Smolarczyk R, Katulski K, Genazzani AR
Gynecol Endocrinol 2013 Apr;29(4):296-300. Epub 2013 Jan 31 doi: 10.3109/09513590.2012.752459. PMID: 23368665
Congenital hypogonadotropic hypogonadism in females: clinical spectrum, evaluation and genetics.
Bry-Gauillard H, Trabado S, Bouligand J, Sarfati J, Francou B, Salenave S, Chanson P, Brailly-Tabard S, Guiochon-Mantel A, Young J
Ann Endocrinol (Paris) 2010 May;71(3):158-62. Epub 2010 Apr 3 doi: 10.1016/j.ando.2010.02.024. PMID: 20363464
Kallmann syndrome.
Dodé C, Hardelin JP
Eur J Hum Genet 2009 Feb;17(2):139-46. Epub 2008 Nov 5 doi: 10.1038/ejhg.2008.206. PMID: 18985070Free PMC Article

Therapy

Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism.
Kim JH, Seo GH, Kim GH, Huh J, Hwang IT, Jang JH, Yoo HW, Choi JH
Exp Clin Endocrinol Diabetes 2019 Sep;127(8):538-544. Epub 2018 Sep 14 doi: 10.1055/a-0681-6608. PMID: 30216942
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
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
Hypogonadotropic hypogonadism and anosmia (Kallmann's syndrome) associated with a marker chromosome.
Bergstrom RW, Hansen KL, Clare CN, Katz MS
J Androl 1987 Jan-Feb;8(1):55-60. doi: 10.1002/j.1939-4640.1987.tb02421.x. PMID: 3104265
Pituitary-testicular responsiveness in male hypogonadotropic hypogonadism.
Weinstein RL, Reitz RE
J Clin Invest 1974 Feb;53(2):408-15. doi: 10.1172/JCI107574. PMID: 11344554Free PMC Article

Prognosis

Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.
Stamou MI, Brand H, Wang M, Wong I, Lippincott MF, Plummer L, Crowley WF, Talkowski M, Seminara S, Balasubramanian R
J Clin Endocrinol Metab 2022 Jul 14;107(8):2228-2242. doi: 10.1210/clinem/dgac300. PMID: 35574646Free PMC Article
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
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.
Villanueva C, Jacobson-Dickman E, Xu C, Manouvrier S, Dwyer AA, Sykiotis GP, Beenken A, Liu Y, Tommiska J, Hu Y, Tiosano D, Gerard M, Leger J, Drouin-Garraud V, Lefebvre H, Polak M, Carel JC, Phan-Hug F, Hauschild M, Plummer L, Rey JP, Raivio T, Bouloux P, Sidis Y, Mohammadi M, de Roux N, Pitteloud N
Genet Med 2015 Aug;17(8):651-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.166. PMID: 25394172Free 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
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

Clinical prediction guides

Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.
Stamou MI, Brand H, Wang M, Wong I, Lippincott MF, Plummer L, Crowley WF, Talkowski M, Seminara S, Balasubramanian R
J Clin Endocrinol Metab 2022 Jul 14;107(8):2228-2242. doi: 10.1210/clinem/dgac300. PMID: 35574646Free PMC Article
Rhinencephalon changes in tuberous sclerosis complex.
Manara R, Brotto D, Bugin S, Pelizza MF, Sartori S, Nosadini M, Azzolini S, Iaconetta G, Parazzini C, Murgia A, Peron A, Canevini P, Labriola F, Vignoli A, Toldo I
Neuroradiology 2018 Aug;60(8):813-820. Epub 2018 Jun 17 doi: 10.1007/s00234-018-2045-x. PMID: 29909560
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
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.
Villanueva C, Jacobson-Dickman E, Xu C, Manouvrier S, Dwyer AA, Sykiotis GP, Beenken A, Liu Y, Tommiska J, Hu Y, Tiosano D, Gerard M, Leger J, Drouin-Garraud V, Lefebvre H, Polak M, Carel JC, Phan-Hug F, Hauschild M, Plummer L, Rey JP, Raivio T, Bouloux P, Sidis Y, Mohammadi M, de Roux N, Pitteloud N
Genet Med 2015 Aug;17(8):651-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.166. PMID: 25394172Free 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

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