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Hypogonadotropic hypogonadism 2 with anosmia

MedGen UID:
864541
•Concept ID:
C4016104
•
Finding
Synonym: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
 
OMIM®: 136350

Professional guidelines

PubMed

Kallmann syndrome caused by mutations in the PROK2 and PROKR2 genes: pathophysiology and genotype-phenotype correlations.
Sarfati J, Dodé C, Young J
Front Horm Res 2010;39:121-132. Epub 2010 Apr 8 doi: 10.1159/000312698. PMID: 20389090
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
Physiologic and genetic insights into the pathophysiology and management of hypogonadotropic hypogonadism.
Hall JE
Ann Endocrinol (Paris) 1999 Jul;60(2):93-101. PMID: 10456179

Recent clinical studies

Etiology

Cribriform Plate Foramina Count in Patients With Acquired and Congenital Anosmia.
Juratli JH, High B, Joshi A, Yilmaz E, Yildirim D, Altundag A, Hummel T
Am J Rhinol Allergy 2025 Jan;39(1):58-62. Epub 2024 Oct 21 doi: 10.1177/19458924241288664. PMID: 39428867
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
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
Kallmann's syndrome.
Kulkarni ML, Balaji MD, Kulkarni AM, Sushanth S, Kulkarni BM
Indian J Pediatr 2007 Dec;74(12):1113-5. doi: 10.1007/s12098-007-0209-5. PMID: 18174649
HLA-compatible paternity in two "fertile eunuchs" with congenital hypogonadotropic hypogonadism and anosmia (the Kallmann syndrome).
Rogol AD, Mittal KK, White BJ, McGinniss MH, Lieblich JM, Rosen SW
J Clin Endocrinol Metab 1980 Aug;51(2):275-9. doi: 10.1210/jcem-51-2-275. PMID: 6772660

Diagnosis

ANOS1 variants in a large cohort of Chinese patients with congenital hypogonadotropic hypogonadism.
Zeng W, Li J, Wang X, Jiang F, Men M
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2022 Jul 28;47(7):847-857. doi: 10.11817/j.issn.1672-7347.2022.220071. PMID: 36039580Free PMC Article
Congenital hypogonadotropic hypogonadism/Kallmann syndrome is associated with statural gain in both men and women: a monocentric study.
Maione L, Pala G, Bouvattier C, Trabado S, Papadakis G, Chanson P, Bouligand J, Pitteloud N, Dwyer AA, Maghnie M, Young J
Eur J Endocrinol 2020 Feb;182(2):185. doi: 10.1530/EJE-19-0537. PMID: 31770102
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
Kallmann's syndrome.
Kulkarni ML, Balaji MD, Kulkarni AM, Sushanth S, Kulkarni BM
Indian J Pediatr 2007 Dec;74(12):1113-5. doi: 10.1007/s12098-007-0209-5. PMID: 18174649
Physiologic and genetic insights into the pathophysiology and management of hypogonadotropic hypogonadism.
Hall JE
Ann Endocrinol (Paris) 1999 Jul;60(2):93-101. PMID: 10456179

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
GNRHR-related central hypogonadism with spontaneous recovery - case report.
Šmigoc Schweiger D, Davidović Povše M, Trebušak Podkrajšek K, Battelino T, Avbelj Stefanija M
Ital J Pediatr 2022 Nov 12;48(1):184. doi: 10.1186/s13052-022-01377-5. PMID: 36371229Free PMC Article
Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes.
Sykiotis GP, Hoang XH, Avbelj M, Hayes FJ, Thambundit A, Dwyer A, Au M, Plummer L, Crowley WF Jr, Pitteloud N
J Clin Endocrinol Metab 2010 Jun;95(6):3019-27. Epub 2010 Apr 9 doi: 10.1210/jc.2009-2582. PMID: 20382682Free PMC Article
Kallmann's syndrome.
Kulkarni ML, Balaji MD, Kulkarni AM, Sushanth S, Kulkarni BM
Indian J Pediatr 2007 Dec;74(12):1113-5. doi: 10.1007/s12098-007-0209-5. PMID: 18174649
Physiologic and genetic insights into the pathophysiology and management of hypogonadotropic hypogonadism.
Hall JE
Ann Endocrinol (Paris) 1999 Jul;60(2):93-101. PMID: 10456179

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
ANOS1 variants in a large cohort of Chinese patients with congenital hypogonadotropic hypogonadism.
Zeng W, Li J, Wang X, Jiang F, Men M
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2022 Jul 28;47(7):847-857. doi: 10.11817/j.issn.1672-7347.2022.220071. PMID: 36039580Free PMC Article
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
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
Kallmann's syndrome.
Kulkarni ML, Balaji MD, Kulkarni AM, Sushanth S, Kulkarni BM
Indian J Pediatr 2007 Dec;74(12):1113-5. doi: 10.1007/s12098-007-0209-5. PMID: 18174649

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
ANOS1 variants in a large cohort of Chinese patients with congenital hypogonadotropic hypogonadism.
Zeng W, Li J, Wang X, Jiang F, Men M
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2022 Jul 28;47(7):847-857. doi: 10.11817/j.issn.1672-7347.2022.220071. PMID: 36039580Free PMC Article
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
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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