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Hypogonadotropic hypogonadism 5 without anosmia

MedGen UID:
765050
•Concept ID:
C3552136
•
Finding
Synonyms: HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA; HYPOGONADOTROPIC HYPOGONADISM 5 WITHOUT ANOSMIA
 
OMIM®: 608892

Professional guidelines

PubMed

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 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

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
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
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
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

Diagnosis

Diagnostic yield of clinical exome sequencing in congenital hypogonadotropic hypogonadism considering the degree of olfactory impairment.
Ortiz-Cabrera NV, Gavela-Pérez T, Mejorado-Molano FJ, Santillán-Coello JM, Villacampa-Aubá JM, Trujillo-Tiebas MJ, Soriano-Guillén L
An Pediatr (Engl Ed) 2022 Oct;97(4):247-254. Epub 2021 Jul 5 doi: 10.1016/j.anpede.2021.06.003. PMID: 34238712
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
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
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
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

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
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
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
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

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
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
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
The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules.
Legouis R, Hardelin JP, Levilliers J, Claverie JM, Compain S, Wunderle V, Millasseau P, Le Paslier D, Cohen D, Caterina D
Cell 1991 Oct 18;67(2):423-35. doi: 10.1016/0092-8674(91)90193-3. PMID: 1913827

Clinical prediction guides

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
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
The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules.
Legouis R, Hardelin JP, Levilliers J, Claverie JM, Compain S, Wunderle V, Millasseau P, Le Paslier D, Cohen D, Caterina D
Cell 1991 Oct 18;67(2):423-35. doi: 10.1016/0092-8674(91)90193-3. PMID: 1913827

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