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Hypogonadotropic hypogonadism 15 with anosmia

MedGen UID:
940975
•Concept ID:
CN257939
•
Disease or Syndrome

Professional guidelines

PubMed

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
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 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

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
Mechanisms of Central Hypogonadism.
Barber TM, Kyrou I, Kaltsas G, Grossman AB, Randeva HS, Weickert MO
Int J Mol Sci 2021 Jul 30;22(15) doi: 10.3390/ijms22158217. PMID: 34360982Free 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
Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate.
Xu H, Niu Y, Wang T, Liu S, Xu H, Wang S, Liu J, Ye Z
Biomed Res Int 2015;2015:649698. Epub 2015 Jun 25 doi: 10.1155/2015/649698. PMID: 26199944Free PMC Article
Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.
Bergman JE, Bocca G, Hoefsloot LH, Meiners LC, van Ravenswaaij-Arts CM
J Pediatr 2011 Mar;158(3):474-9. doi: 10.1016/j.jpeds.2010.08.032. PMID: 20884005

Therapy

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
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
Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism.
Pitteloud N, Hayes FJ, Dwyer A, Boepple PA, Lee H, Crowley WF Jr
J Clin Endocrinol Metab 2002 Sep;87(9):4128-36. doi: 10.1210/jc.2002-020518. PMID: 12213860
Preservation of fertility despite subnormal gonadotropin and testosterone levels after cessation of pulsatile gonadotropin-releasing hormone therapy in a man with Kallmann's syndrome.
Bagatell CJ, Paulsen CA, Bremner WJ
Fertil Steril 1994 Feb;61(2):392-4. PMID: 8299803
Gonadotropin responses to low dose pulsatile administration of GnRH in a case of anosmia with hypogonadotropic hypogonadism associated with gonadal dysgenesis 47 XXY.
Hazard J, Rozenberg I, Perlemuter L, Kestenbaum S, Vendrely E, Raoul O, Fiet J, Villete JM
Acta Endocrinol (Copenh) 1986 Dec;113(4):593-7. doi: 10.1530/acta.0.1130593. PMID: 3098018

Prognosis

Case report: An adolescent female with anosmic hypogonadotropic hypogonadism, intellectual disability, and papillary thyroid carcinoma: heterozygous deletion of TCF12.
Celik NB, Sezer A, Genel N, Savas-Erdeve S, Karaman İ, Cetinkaya S
Front Endocrinol (Lausanne) 2024;15:1426916. Epub 2024 Jul 5 doi: 10.3389/fendo.2024.1426916. PMID: 39036055Free PMC Article
A de novo frameshift FGFR1 mutation extending the protein in an individual with multiple epiphyseal dysplasia and hypogonadotropic hypogonadism without anosmia.
Champagne M, Olivier P, Glavas P, Cantin MA, Rauch F, Alos N, Campeau PM
Eur J Med Genet 2020 Apr;63(4):103784. Epub 2019 Oct 9 doi: 10.1016/j.ejmg.2019.103784. PMID: 31605817
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
Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.
Bergman JE, Bocca G, Hoefsloot LH, Meiners LC, van Ravenswaaij-Arts CM
J Pediatr 2011 Mar;158(3):474-9. doi: 10.1016/j.jpeds.2010.08.032. PMID: 20884005
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

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
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
Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.
Bergman JE, Bocca G, Hoefsloot LH, Meiners LC, van Ravenswaaij-Arts CM
J Pediatr 2011 Mar;158(3):474-9. doi: 10.1016/j.jpeds.2010.08.032. PMID: 20884005
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
The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review.
White BJ, Rogol AD, Brown KS, Lieblich JM, Rosen SW
Am J Med Genet 1983 Jul;15(3):417-35. doi: 10.1002/ajmg.1320150307. PMID: 6881209

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