Aromatase deficiency
- Synonyms
- Increased aromatase activity; Pseudohermaphroditism, female, due to placental aromatase deficiency
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (38 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of the endocrine system
- Hypergonadotropic hypogonadism
Hypergonadotropic hypogonadism
- MedGen UID: 184926
- Concept ID: C0948896
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hypergonadotropic hypogonadism
- Abnormality of the genitourinary system
- Female pseudohermaphroditism
Female pseudohermaphroditism
- MedGen UID: 65964
- Concept ID: C0238394
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Ovarian cyst
Ovarian cyst
- MedGen UID: 14540
- Concept ID: C0029927
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Primary amenorrhea
Primary amenorrhea
- MedGen UID: 115918
- Concept ID: C0232939
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Female pseudohermaphroditism
- Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- Finding: Finding
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
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