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Follicle-stimulating hormone deficiency, isolated(HH24)

MedGen UID:
341603
Concept ID:
C1856716
Disease or Syndrome
Synonyms: HH24; HYPOGONADOTROPIC HYPOGONADISM 24 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
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): FSHB (11p14.1)
OMIM®: 229070
Orphanet: ORPHA52901

Definition

Subnormal concentration of follicle stimulating hormone (FSH), associated with mutations in the FSHB gene, encoding follitropin subunit beta. [from NCI]

Clinical features

Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Infertility
MedGen UID:
43876
Concept ID:
C0021359
Finding
Infertility means not being able to become pregnant after a year of trying. If a woman can get pregnant but keeps having miscarriages or stillbirths, that's also called infertility. Infertility is fairly common. After one year of having unprotected sex, about 15 percent of couples are unable to get pregnant. About a third of the time, infertility can be traced to the woman. In another third of cases, it is because of the man. The rest of the time, it is because of both partners or no cause can be found. There are treatments that are specifically for men or for women. Some involve both partners. Drugs, assisted reproductive technology, and surgery are common treatments. Happily, many couples treated for infertility go on to have babies. NIH: National Institute of Child Health and Human Development.
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).
Abnormality of the sense of smell
MedGen UID:
867293
Concept ID:
C4021655
Finding
An anomaly in the ability to perceive and distinguish scents (odors).
Infertility
MedGen UID:
43876
Concept ID:
C0021359
Finding
Infertility means not being able to become pregnant after a year of trying. If a woman can get pregnant but keeps having miscarriages or stillbirths, that's also called infertility. Infertility is fairly common. After one year of having unprotected sex, about 15 percent of couples are unable to get pregnant. About a third of the time, infertility can be traced to the woman. In another third of cases, it is because of the man. The rest of the time, it is because of both partners or no cause can be found. There are treatments that are specifically for men or for women. Some involve both partners. Drugs, assisted reproductive technology, and surgery are common treatments. Happily, many couples treated for infertility go on to have babies. NIH: National Institute of Child Health and Human Development.
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).
Decreased muscle mass
MedGen UID:
373256
Concept ID:
C1837108
Finding
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
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.
Abnormality of the sense of smell
MedGen UID:
867293
Concept ID:
C4021655
Finding
An anomaly in the ability to perceive and distinguish scents (odors).
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFollicle-stimulating hormone deficiency, isolated
Follow this link to review classifications for Follicle-stimulating hormone deficiency, isolated in Orphanet.

Recent clinical studies

Diagnosis

Zheng J, Mao J, Cui M, Liu Z, Wang X, Xiong S, Nie M, Wu X
Eur J Med Genet 2017 Jun;60(6):335-339. Epub 2017 Apr 6 doi: 10.1016/j.ejmg.2017.04.004. PMID: 28392474

Therapy

Zheng J, Mao J, Cui M, Liu Z, Wang X, Xiong S, Nie M, Wu X
Eur J Med Genet 2017 Jun;60(6):335-339. Epub 2017 Apr 6 doi: 10.1016/j.ejmg.2017.04.004. PMID: 28392474

Prognosis

Zheng J, Mao J, Cui M, Liu Z, Wang X, Xiong S, Nie M, Wu X
Eur J Med Genet 2017 Jun;60(6):335-339. Epub 2017 Apr 6 doi: 10.1016/j.ejmg.2017.04.004. PMID: 28392474

Clinical prediction guides

Zheng J, Mao J, Cui M, Liu Z, Wang X, Xiong S, Nie M, Wu X
Eur J Med Genet 2017 Jun;60(6):335-339. Epub 2017 Apr 6 doi: 10.1016/j.ejmg.2017.04.004. PMID: 28392474

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