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Hypogonadotropic hypogonadism 3 without anosmia

MedGen UID:
865509
•Concept ID:
C4017072
•
Finding
Synonym: HYPOGONADOTROPIC HYPOGONADISM 3 WITHOUT ANOSMIA
 
OMIM®: 607123

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
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
Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships.
Brioude F, Bouligand J, Trabado S, Francou B, Salenave S, Kamenicky P, Brailly-Tabard S, Chanson P, Guiochon-Mantel A, Young J
Eur J Endocrinol 2010 May;162(5):835-51. Epub 2010 Mar 5 doi: 10.1530/EJE-10-0083. PMID: 20207726

Recent clinical studies

Etiology

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 FEZF1 cause Kallmann syndrome.
Kotan LD, Hutchins BI, Ozkan Y, Demirel F, Stoner H, Cheng PJ, Esen I, Gurbuz F, Bicakci YK, Mengen E, Yuksel B, Wray S, Topaloglu AK
Am J Hum Genet 2014 Sep 4;95(3):326-31. doi: 10.1016/j.ajhg.2014.08.006. PMID: 25192046Free PMC Article
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
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

Diagnosis

Anosmia in an Adolescent.
Chamseddin BH, Berg EE, Shah G, Mitchell RB
Ear Nose Throat J 2019 Mar;98(3):129-130. Epub 2019 Feb 21 doi: 10.1177/0145561318823960. PMID: 30938245
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
Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships.
Brioude F, Bouligand J, Trabado S, Francou B, Salenave S, Kamenicky P, Brailly-Tabard S, Chanson P, Guiochon-Mantel A, Young J
Eur J Endocrinol 2010 May;162(5):835-51. Epub 2010 Mar 5 doi: 10.1530/EJE-10-0083. PMID: 20207726
The Kallmann's syndrome variant (KSV) model of the schizophrenias.
Cowen MA, Green M
Schizophr Res 1993 Mar;9(1):1-10. doi: 10.1016/0920-9964(93)90002-z. PMID: 8461265

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
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
A review of Kallmann syndrome: genetics, pathophysiology, and clinical management.
Fechner A, Fong S, McGovern P
Obstet Gynecol Surv 2008 Mar;63(3):189-94. doi: 10.1097/OGX.0b013e3181641278. PMID: 18279545
Magnetic resonance imaging of the hypoplasia of the rhinencephalon in a patient with Kallmann's syndrome.
Takeda T, Takasu N, Yamauchi K, Komiya I, Ohtsuka H, Nagasawa Y, Ohara N, Yamada T
Intern Med 1992 Mar;31(3):394-6. doi: 10.2169/internalmedicine.31.394. PMID: 1611194
Hypogonadotropic hypogonadism with anosmia (Kallmann's syndrome) unresponsive to clomiphene citrate.
Schroffner WG, Furth ED
J Clin Endocrinol Metab 1970 Sep;31(3):267-70. doi: 10.1210/jcem-31-3-267. PMID: 5453324

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
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
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
Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature.
Persson JW, Humphrey K, Watson C, Taylor P, Leigh D, McDonald B, Fraser IS
Hum Reprod 1999 May;14(5):1207-12. doi: 10.1093/humrep/14.5.1207. PMID: 10325262

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
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
Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome.
Söderlund D, Canto P, Méndez JP
J Clin Endocrinol Metab 2002 Jun;87(6):2589-92. doi: 10.1210/jcem.87.6.8611. PMID: 12050219
Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature.
Persson JW, Humphrey K, Watson C, Taylor P, Leigh D, McDonald B, Fraser IS
Hum Reprod 1999 May;14(5):1207-12. doi: 10.1093/humrep/14.5.1207. PMID: 10325262

Recent systematic reviews

Oral and Maxillofacial Manifestations of Kallmann Syndrome: A Systematic Analysis of the Literature.
Soares JMAL, Sousa-Neto SS, Lima CRDS, Drumond VZ, de Andrade BAB, Mesquita RA, Abreu LG, de Arruda JAA, Sampaio GC
Spec Care Dentist 2025 Jan-Feb;45(1):1-21. doi: 10.1111/scd.13104. PMID: 39817612

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