Congenital lipoid adrenal hyperplasia due to STAR deficency
- Synonyms
- ADRENAL HYPERPLASIA I; Cholesterol Desmolase-Deficient Congenital Adrenal Hyperplasia; Cholesterol monooxygenase (side-chain cleaving) deficiency; Congenital lipoid adrenal hyperplasia; Lipoid CAH; Lipoid adrenal hyperplasia; Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (43 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of the endocrine system
- Adrenogenital syndrome
Adrenogenital syndrome
- MedGen UID: 86215
- Concept ID: C0302280
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
- MedGen UID: 7900
- Concept ID: C0001627
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Adrenogenital syndrome
- Abnormality of the genitourinary system
- Hypospadias
Hypospadias
- MedGen UID: 163083
- Concept ID: C0848558
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Renal salt wasting
Renal salt wasting
- MedGen UID: 375868
- Concept ID: C1846347
- Finding: Finding
Abnormality of the genitourinary system
- Hypospadias
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