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Hypogonadotropic hypogonadism 20 without anosmia

MedGen UID:
865292
•Concept ID:
C4016855
•
Finding
Synonym: HYPOGONADOTROPIC HYPOGONADISM 20 WITHOUT ANOSMIA
 
OMIM®: 603725

Professional guidelines

PubMed

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
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
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
Spectral signatures of mirror movements in the sensori-motor connectivity in kallmann syndrome.
Manara R, Di Nardo F, Salvalaggio A, Sinisi AA, Bonanni G, Palumbo V, Cantone E, Brunetti A, Di Salle F, D'errico A, Elefante A, Esposito F
Hum Brain Mapp 2018 Jan;39(1):42-53. Epub 2017 Sep 30 doi: 10.1002/hbm.23806. PMID: 28963812Free PMC Article
Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism.
Gonçalves CI, Fonseca F, Borges T, Cunha F, Lemos MC
Hum Reprod 2017 Mar 1;32(3):704-711. doi: 10.1093/humrep/dew354. PMID: 28122887
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

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
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
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
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

Therapy

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
Idiopathic hypogonadotropic hypogonadism reversal after testosterone replacement in a 34-year-old male.
Rashid O, Ram N, Farooq S, Kiran Z
BMJ Case Rep 2017 Jun 5;2017 doi: 10.1136/bcr-2016-218729. PMID: 28583920Free 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
L-5-hydroxytryptophan does not stimulate LH secretion directly from the pituitary in patients with gonadotrophin releasing hormone deficiency.
Lado-Abeal J, Graña M, Rey C, Cabezas-Cerrato J
Clin Endocrinol (Oxf) 1998 Aug;49(2):203-7. doi: 10.1046/j.1365-2265.1998.00501.x. PMID: 9828908
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

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
Spectral signatures of mirror movements in the sensori-motor connectivity in kallmann syndrome.
Manara R, Di Nardo F, Salvalaggio A, Sinisi AA, Bonanni G, Palumbo V, Cantone E, Brunetti A, Di Salle F, D'errico A, Elefante A, Esposito F
Hum Brain Mapp 2018 Jan;39(1):42-53. Epub 2017 Sep 30 doi: 10.1002/hbm.23806. PMID: 28963812Free 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
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

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
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
Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome.
Kałużna M, Budny B, Rabijewski M, Kałużny J, Dubiel A, Trofimiuk-Müldner M, Wrotkowska E, Hubalewska-Dydejczyk A, Ruchała M, Ziemnicka K
Genes (Basel) 2021 Jun 5;12(6) doi: 10.3390/genes12060868. PMID: 34198905Free PMC Article
Spectral signatures of mirror movements in the sensori-motor connectivity in kallmann syndrome.
Manara R, Di Nardo F, Salvalaggio A, Sinisi AA, Bonanni G, Palumbo V, Cantone E, Brunetti A, Di Salle F, D'errico A, Elefante A, Esposito F
Hum Brain Mapp 2018 Jan;39(1):42-53. Epub 2017 Sep 30 doi: 10.1002/hbm.23806. PMID: 28963812Free 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

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