U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hypogonadotropic hypogonadism 24 without anosmia(HH24)

MedGen UID:
1806136
Concept ID:
C5574957
Disease or Syndrome
Synonyms: Follicle-stimulating hormone deficiency, isolated; HH24; HYPOGONADOTROPIC HYPOGONADISM 24 WITH OR WITHOUT ANOSMIA; Isolated follicle-stimulating hormone (FSH) deficiency; Isolated FSH deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): FSHB (11p14.1)
 
Monarch Initiative: MONDO:0009239
OMIM®: 229070
Orphanet: ORPHA52901

Definition

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 general phenotypic description and a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see 147950. [from OMIM]

Clinical features

From HPO
Azoospermia
MedGen UID:
2150
Concept ID:
C0004509
Disease or Syndrome
Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
Infertility disorder
MedGen UID:
43876
Concept ID:
C0021359
Finding
Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Decreased testicular size
MedGen UID:
66027
Concept ID:
C0241355
Finding
Reduced volume of the testicle (the male gonad).
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Decreased muscle mass
MedGen UID:
373256
Concept ID:
C1837108
Finding
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
A decreased functionality of the gonad.
Elevated circulating luteinizing hormone level
MedGen UID:
868698
Concept ID:
C4023101
Finding
An elevated concentration of luteinizing hormone in the blood.
Decreased circulating follicle stimulating hormone concentration
MedGen UID:
892977
Concept ID:
C4072889
Finding
A reduction of the circulating level of follicle-stimulating hormone (FSH).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypogonadotropic hypogonadism 24 without anosmia

Professional guidelines

PubMed

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

Recent clinical studies

Etiology

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
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
Quinton R, Duke VM, Robertson A, Kirk JM, Matfin G, de Zoysa PA, Azcona C, MacColl GS, Jacobs HS, Conway GS, Besser M, Stanhope RG, Bouloux PM
Clin Endocrinol (Oxf) 2001 Aug;55(2):163-74. doi: 10.1046/j.1365-2265.2001.01277.x. PMID: 11531922
Lavoie HB, Martin KA, Taylor E, Crowley WF, Hall JE
J Clin Endocrinol Metab 1998 Jan;83(1):241-7. doi: 10.1210/jcem.83.1.4488. PMID: 9435449

Diagnosis

Pawlowitzki IH, Diekstall P, Schadel A, Miny P
Am J Med Genet 1987 Feb;26(2):473-9. doi: 10.1002/ajmg.1320260226. PMID: 3101500
Yamaguchi S, Katagiri H, Utsunomiya T, Yoshida K, Kadota T
Int J Fertil 1979;24(2):101-7. PMID: 40902

Therapy

Maione L, Cantone E, Nettore IC, Cerbone G, De Brasi D, Maione N, Young J, Di Somma C, Sinisi AA, Iengo M, Macchia PE, Pivonello R, Colao A
Endocrine 2016 May;52(2):236-43. Epub 2015 Jul 25 doi: 10.1007/s12020-015-0690-y. PMID: 26209039
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
Lavoie HB, Martin KA, Taylor E, Crowley WF, Hall JE
J Clin Endocrinol Metab 1998 Jan;83(1):241-7. doi: 10.1210/jcem.83.1.4488. PMID: 9435449
Ballabio A, Carrozzo R, Parenti G, Gil A, Zollo M, Persico MG, Gillard E, Affara N, Yates J, Ferguson-Smith MA
Genomics 1989 Jan;4(1):36-40. doi: 10.1016/0888-7543(89)90311-x. PMID: 2644167
Tagatz G, Fialkow PJ, Smith D, Spadoni L
N Engl J Med 1970 Dec 10;283(24):1326-9. doi: 10.1056/NEJM197012102832407. PMID: 5478454

Prognosis

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
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

Clinical prediction guides

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
Maione L, Cantone E, Nettore IC, Cerbone G, De Brasi D, Maione N, Young J, Di Somma C, Sinisi AA, Iengo M, Macchia PE, Pivonello R, Colao A
Endocrine 2016 May;52(2):236-43. Epub 2015 Jul 25 doi: 10.1007/s12020-015-0690-y. PMID: 26209039
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
Quinton R, Duke VM, Robertson A, Kirk JM, Matfin G, de Zoysa PA, Azcona C, MacColl GS, Jacobs HS, Conway GS, Besser M, Stanhope RG, Bouloux PM
Clin Endocrinol (Oxf) 2001 Aug;55(2):163-74. doi: 10.1046/j.1365-2265.2001.01277.x. PMID: 11531922
Lavoie HB, Martin KA, Taylor E, Crowley WF, Hall JE
J Clin Endocrinol Metab 1998 Jan;83(1):241-7. doi: 10.1210/jcem.83.1.4488. PMID: 9435449

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...