U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hypogonadotropic hypogonadism 18 with or without anosmia(HH18)

MedGen UID:
815305
Concept ID:
C3808975
Disease or Syndrome
Synonym: HH18
 
Gene (location): IL17RD (3p14.3)
 
Monarch Initiative: MONDO:0014103
OMIM®: 615267

Authors:

Additional description

From OMIM
Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).' For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see 147950.  http://www.omim.org/entry/615267

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Anosmia
MedGen UID:
1950
Concept ID:
C0003126
Finding
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Abnormality of the dentition
MedGen UID:
78084
Concept ID:
C0262444
Finding
Any abnormality of the teeth.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
A decreased functionality of the gonad.
Absence of pubertal development
MedGen UID:
375841
Concept ID:
C1846228
Finding

Professional guidelines

PubMed

Tritos NA, Miller KK
JAMA 2023 Apr 25;329(16):1386-1398. doi: 10.1001/jama.2023.5444. PMID: 37097352
Jankovic J, Tan EK
J Neurol Neurosurg Psychiatry 2020 Aug;91(8):795-808. Epub 2020 Jun 23 doi: 10.1136/jnnp-2019-322338. PMID: 32576618
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article

Recent clinical studies

Etiology

Alexander EC, Faruqi D, Farquhar R, Unadkat A, Ng Yin K, Hoskyns R, Varughese R, Howard SR
Eur J Endocrinol 2024 Jan 3;190(1):S1-S11. doi: 10.1093/ejendo/lvad166. PMID: 38128110Free PMC Article
Ahmad SJ, Feigen CM, Vazquez JP, Kobets AJ, Altschul DJ
J Integr Neurosci 2022 Apr 6;21(3):77. doi: 10.31083/j.jin2103077. PMID: 35633158
Abbasi AZ, Kiyani DA, Hamid SM, Saalim M, Fahim A, Jalal N
J Med Virol 2021 Jul;93(7):4205-4218. Epub 2021 Mar 18 doi: 10.1002/jmv.26911. PMID: 33638460Free PMC Article
Bougakov D, Podell K, Goldberg E
Mol Neurobiol 2021 Feb;58(2):564-575. Epub 2020 Sep 29 doi: 10.1007/s12035-020-02152-5. PMID: 32990925Free PMC Article
Yabluchanskiy A, Tsitouras PD
Drugs Aging 2019 Nov;36(11):981-989. doi: 10.1007/s40266-019-00716-2. PMID: 31595418Free PMC Article

Diagnosis

Mohanraj S, Prasad HK
Indian J Pediatr 2023 Jun;90(6):590-597. Epub 2023 May 2 doi: 10.1007/s12098-023-04577-x. PMID: 37127825
Dong Y, Li Y, Liu K, Han X, Liu R, Ren Y, Cong L, Zhang Q, Hou T, Song L, Tang S, Shi L, Luo Y, Kalpouzos G, Laukka EJ, Winblad B, Wang Y, Du Y, Qiu C
Alzheimers Dement 2023 Feb;19(2):589-601. Epub 2022 Sep 15 doi: 10.1002/alz.12777. PMID: 36341691
Gaudino R, De Filippo G, Bozzola E, Gasparri M, Bozzola M, Villani A, Radetti G
Ital J Pediatr 2022 Mar 24;48(1):45. doi: 10.1186/s13052-022-01242-5. PMID: 35331309Free PMC Article
Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P
Acta Paediatr 2011 Jun;100(6):851-60. Epub 2011 Apr 8 doi: 10.1111/j.1651-2227.2011.02235.x. PMID: 21342258Free PMC Article
Braverman PK, Sondheimer SJ
Pediatr Rev 1997 Jan;18(1):17-25; quiz 26. doi: 10.1542/pir.18-1-17. PMID: 8993065

Therapy

Alexander EC, Faruqi D, Farquhar R, Unadkat A, Ng Yin K, Hoskyns R, Varughese R, Howard SR
Eur J Endocrinol 2024 Jan 3;190(1):S1-S11. doi: 10.1093/ejendo/lvad166. PMID: 38128110Free PMC Article
Yan CH, Jang SS, Lin HC, Ma Y, Khanwalkar AR, Thai A, Patel ZM
Int Forum Allergy Rhinol 2023 Jun;13(6):989-997. Epub 2022 Dec 21 doi: 10.1002/alr.23116. PMID: 36507615Free PMC Article
Yabluchanskiy A, Tsitouras PD
Drugs Aging 2019 Nov;36(11):981-989. doi: 10.1007/s40266-019-00716-2. PMID: 31595418Free PMC Article
Christou MA, Christou PA, Markozannes G, Tsatsoulis A, Mastorakos G, Tigas S
Sports Med 2017 Sep;47(9):1869-1883. doi: 10.1007/s40279-017-0709-z. PMID: 28258581
Plotton I, Brosse A, Cuzin B, Lejeune H
Ann Endocrinol (Paris) 2014 May;75(2):118-25. Epub 2014 Apr 29 doi: 10.1016/j.ando.2014.04.004. PMID: 24786702

Prognosis

Mohanraj S, Prasad HK
Indian J Pediatr 2023 Jun;90(6):590-597. Epub 2023 May 2 doi: 10.1007/s12098-023-04577-x. PMID: 37127825
Park JW, Wang X, Xu RH
Int J Biol Sci 2022;18(12):4795-4808. Epub 2022 Jul 15 doi: 10.7150/ijbs.73485. PMID: 35874953Free PMC Article
Ladani AP, Loganathan M, Kolikonda MK, Lippmann S
South Med J 2021 Dec;114(12):751-759. doi: 10.14423/SMJ.0000000000001337. PMID: 34853850Free PMC Article
Zhou YL, Lu J, Cheng YB, Xin N
Eur Rev Med Pharmacol Sci 2020 Dec;24(24):13044-13048. doi: 10.26355/eurrev_202012_24210. PMID: 33378056
Syeda S, Baptiste C, Breslin N, Gyamfi-Bannerman C, Miller R
Semin Perinatol 2020 Nov;44(7):151284. Epub 2020 Jul 21 doi: 10.1016/j.semperi.2020.151284. PMID: 32792262Free PMC Article

Clinical prediction guides

Toomre D, Kandula S, Shaman J
Emerg Infect Dis 2023 Aug;29(8):1711-1713. doi: 10.3201/eid2908.230071. PMID: 37486228Free PMC Article
Yan CH, Jang SS, Lin HC, Ma Y, Khanwalkar AR, Thai A, Patel ZM
Int Forum Allergy Rhinol 2023 Jun;13(6):989-997. Epub 2022 Dec 21 doi: 10.1002/alr.23116. PMID: 36507615Free PMC Article
Dwyer AA, Stamou MI, Anghel E, Hornstein S, Chen D, Salnikov KB, McDonald IR, Plummer L, Seminara SB, Balasubramanian R
J Clin Endocrinol Metab 2023 Mar 10;108(4):897-908. doi: 10.1210/clinem/dgac615. PMID: 36268624Free PMC Article
Papazian EJ, Pinto JM
Chem Senses 2021 Jan 1;46 doi: 10.1093/chemse/bjab045. PMID: 34673938
Rouadi PW, Idriss SA, Bousquet J
Curr Opin Allergy Clin Immunol 2021 Jun 1;21(3):229-244. doi: 10.1097/ACI.0000000000000735. PMID: 33560742

Recent systematic reviews

Alexander EC, Faruqi D, Farquhar R, Unadkat A, Ng Yin K, Hoskyns R, Varughese R, Howard SR
Eur J Endocrinol 2024 Jan 3;190(1):S1-S11. doi: 10.1093/ejendo/lvad166. PMID: 38128110Free PMC Article
Vance DE, Del Bene VA, Kamath V, Frank JS, Billings R, Cho DY, Byun JY, Jacob A, Anderson JN, Visscher K, Triebel K, Martin KM, Li W, Puga F, Fazeli PL
Neuropsychol Rev 2024 Mar;34(1):155-191. Epub 2023 Feb 2 doi: 10.1007/s11065-022-09573-0. PMID: 36725781Free PMC Article
Lopez-Leon S, Wegman-Ostrosky T, Ayuzo Del Valle NC, Perelman C, Sepulveda R, Rebolledo PA, Cuapio A, Villapol S
Sci Rep 2022 Jun 23;12(1):9950. doi: 10.1038/s41598-022-13495-5. PMID: 35739136Free PMC Article
Malik P, Patel K, Pinto C, Jaiswal R, Tirupathi R, Pillai S, Patel U
J Med Virol 2022 Jan;94(1):253-262. Epub 2021 Sep 7 doi: 10.1002/jmv.27309. PMID: 34463956Free PMC Article
Christou MA, Christou PA, Markozannes G, Tsatsoulis A, Mastorakos G, Tigas S
Sports Med 2017 Sep;47(9):1869-1883. doi: 10.1007/s40279-017-0709-z. PMID: 28258581

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...