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Hypogonadotropic hypogonadism 10 without anosmia

MedGen UID:
864711
•Concept ID:
C4016274
•
Finding
Synonym: HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA
 
OMIM®: 162330

Professional guidelines

PubMed

Gonadotropin-releasing hormone (GnRH) deficiency under treatment: psychological and sexual functioning impacts.
Georgopoulos NA, Armeni AK, Stamou M, Kentrou A, Tsermpini EE, Iconomou G, Hyphantis T, Assimakopoulos K
Hormones (Athens) 2018 Sep;17(3):383-390. Epub 2018 Aug 30 doi: 10.1007/s42000-018-0055-z. PMID: 30168087
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Geneviève D, Leheup B, Odent S, Jouk PS, Mercier S, Faivre L, Vincent-Delorme C, Francannet C, Naudion S, Mathieu-Dramard M, Delrue MA, Goldenberg A, Héron D, Parent P, Touraine R, Layet V, Sanlaville D, Quélin C, Moutton S, Fradin M, Jacquette A, Sigaudy S, Pinson L, Sarda P, Guerrot AM, Rossi M, Masurel-Paulet A, El Chehadeh S, Piguel X, Rodriguez-Ballesteros M, Ragot S, Lyonnet S, Bilan F, Gilbert-Dussardier B
Am J Med Genet C Semin Med Genet 2017 Dec;175(4):417-430. Epub 2017 Nov 27 doi: 10.1002/ajmg.c.31591. PMID: 29178447
Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.
Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J
Nat Rev Endocrinol 2015 Sep;11(9):547-64. Epub 2015 Jul 21 doi: 10.1038/nrendo.2015.112. PMID: 26194704

Recent clinical studies

Etiology

Bone involvement in males with Kallmann disease.
Iolascon G, Frizzi L, Bianco M, Gimigliano F, Palumbo V, Sinisi AM, Sinisi AA
Aging Clin Exp Res 2015 Oct;27 Suppl 1:S31-6. Epub 2015 Jul 23 doi: 10.1007/s40520-015-0421-5. PMID: 26201943
Transition in endocrinology: induction of puberty.
Dunkel L, Quinton R
Eur J Endocrinol 2014 Jun;170(6):R229-39. Epub 2014 May 17 doi: 10.1530/EJE-13-0894. PMID: 24836550
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
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

Diagnosis

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
Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.
Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J
Nat Rev Endocrinol 2015 Sep;11(9):547-64. Epub 2015 Jul 21 doi: 10.1038/nrendo.2015.112. PMID: 26194704
Transition in endocrinology: induction of puberty.
Dunkel L, Quinton R
Eur J Endocrinol 2014 Jun;170(6):R229-39. Epub 2014 May 17 doi: 10.1530/EJE-13-0894. PMID: 24836550
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
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

Therapy

Bone involvement in males with Kallmann disease.
Iolascon G, Frizzi L, Bianco M, Gimigliano F, Palumbo V, Sinisi AM, Sinisi AA
Aging Clin Exp Res 2015 Oct;27 Suppl 1:S31-6. Epub 2015 Jul 23 doi: 10.1007/s40520-015-0421-5. PMID: 26201943
Biochemical and MRI findings of Kallmann's syndrome.
Dash PK, Raj DH
BMJ Case Rep 2014 Dec 9;2014 doi: 10.1136/bcr-2014-207386. PMID: 25498112Free 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
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

Prognosis

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
Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.
Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J
Nat Rev Endocrinol 2015 Sep;11(9):547-64. Epub 2015 Jul 21 doi: 10.1038/nrendo.2015.112. PMID: 26194704
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
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 and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism.
Bhagavath B, Podolsky RH, Ozata M, Bolu E, Bick DP, Kulharya A, Sherins RJ, Layman LC
Fertil Steril 2006 Mar;85(3):706-13. doi: 10.1016/j.fertnstert.2005.08.044. PMID: 16500342

Clinical prediction guides

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
Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.
Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J
Nat Rev Endocrinol 2015 Sep;11(9):547-64. Epub 2015 Jul 21 doi: 10.1038/nrendo.2015.112. PMID: 26194704
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
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
Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism.
Bhagavath B, Podolsky RH, Ozata M, Bolu E, Bick DP, Kulharya A, Sherins RJ, Layman LC
Fertil Steril 2006 Mar;85(3):706-13. doi: 10.1016/j.fertnstert.2005.08.044. PMID: 16500342

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