Hypogonadotropic hypogonadism 24 without anosmia
- Synonyms
- Follicle-stimulating hormone deficiency, isolated; HYPOGONADOTROPIC HYPOGONADISM 24 WITH OR WITHOUT ANOSMIA; Isolated FSH deficiency; Isolated follicle-stimulating hormone (FSH) deficiency
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (22 available)
Genes See tests for all associated and related genes
Also known as: HH24, FSHB
Summary: follicle stimulating hormone subunit beta
Clinical features
Help- Abnormality of the endocrine system
- Decreased circulating follicle stimulating hormone concentration
Decreased circulating follicle stimulating hormone concentration
- MedGen UID: 892977
- Concept ID: C4072889
- Finding: Finding
Abnormality of the endocrine system
- Elevated circulating luteinizing hormone level
Elevated circulating luteinizing hormone level
- MedGen UID: 868698
- Concept ID: C4023101
- Finding: Finding
Abnormality of the endocrine system
- Hypogonadism
Hypogonadism
- MedGen UID: 5711
- Concept ID: C0020619
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Decreased circulating follicle stimulating hormone concentration
- Abnormality of the genitourinary system
- Azoospermia
Azoospermia
- MedGen UID: 2150
- Concept ID: C0004509
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Decreased testicular size
Decreased testicular size
- MedGen UID: 66027
- Concept ID: C0241355
- Finding: Finding
Abnormality of the genitourinary system
- Infertility disorder
Infertility disorder
- MedGen UID: 43876
- Concept ID: C0021359
- Finding: Finding
Abnormality of the genitourinary system
- Primary amenorrhea
Primary amenorrhea
- MedGen UID: 115918
- Concept ID: C0232939
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Azoospermia
- Abnormality of the musculoskeletal system
- Decreased muscle mass
Decreased muscle mass
- MedGen UID: 373256
- Concept ID: C1837108
- Finding: Finding
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- Finding: Finding
Abnormality of the musculoskeletal system
- Decreased muscle mass
- Abnormality of the nervous system
- Abnormality of the sense of smell
Abnormality of the sense of smell
- MedGen UID: 867293
- Concept ID: C4021655
- Finding: Finding
Abnormality of the nervous system
- Abnormality of the sense of smell
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