Congenital lipoid adrenal hyperplasia due to STAR deficency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
LIPOID HYPERPLASIA, CONGENITAL, OF ADRENAL CORTEX WITH MALE PSEUDOHERMAPHRODITISM ADRENAL HYPERPLASIA I LCAH CLAH |
| Number of Symptoms | 10 |
| OrphanetNr: | 90790 |
| OMIM Id: |
201710
|
| ICD-10: |
E25.0 |
| UMLs: |
C0342474 |
| MeSH: |
C537027 |
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
[Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
-Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease -Rare gynecologic or obstetric disease -Rare urogenital disease Congenital adrenal hyperplasia -Rare endocrine disease -Rare genetic disease Non-acquired premature ovarian failure -Rare endocrine disease -Rare genetic disease -Rare gynecologic or obstetric disease |
Comment:
| Most patients have female external genitalia regardless of chromosomal sex and have evidence of salt loss in the first year of life and usually within the first 2 months (PMID: 25654062) |
Symptom Information:
|
|
(HPO:0008730) | Female external genitalia in individual with 46,XY karyotype | 25654062 | IBIS | 3 / 7739 | ||
|
|
(HPO:0000047) | Hypospadias | 250 / 7739 | ||||
|
|
(HPO:0000127) | Renal salt wasting | 25654062 | IBIS | 21 / 7739 | ||
|
|
(HPO:0001254) | Lethargy | 24265530 | IBIS | 104 / 7739 | ||
|
|
(HPO:0003154) | Increased circulating ACTH level | 24265530 | IBIS | 8 / 7739 | ||
|
|
(HPO:0000840) | Adrenogenital syndrome | 25654062 | IBIS | 6 / 7739 | ||
|
|
(HPO:0001000) | Abnormality of skin pigmentation | 24265530 | IBIS | 105 / 7739 | ||
|
|
(OMIM) | Phenotypic female | 25654062 | IBIS | 1 / 7739 | ||
|
|
(OMIM) | Lipoid adrenal hyperplasia | 25654062 | IBIS | 1 / 7739 | ||
|
|
(OMIM) | 20, 22 desmolase deficiency | 1 / 7739 |
Associated genes:
| STAR; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Lipoid congenital adrenal hyperplasia, the most severe disorder of steroid hormone biosynthesis, is caused by a defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females ... |
| Clinical Description OMIM |
Affected individuals may have a severe deficiency of adrenal or gonadal steroids. All affected individuals are phenotypic females irrespective of gonadal sex, and frequently die in infancy if mineralocorticoid and glucocorticoid replacement are not instituted. Only 11 of ... |
| Molecular genetics OMIM |
Because studies had shown that LCAH was caused by an inability to convert cholesterol to pregnenolone, the disorder was initially mislabeled '20,22 desmolase deficiency,' and was thought to involve the cholesterol side-chain cleavage enzyme P450scc (CYP11A1; 118485); see ... |
| Population genetics OMIM | Lipoid congenital adrenal hyperplasia is common among the Japanese, Korean, and Palestinian Arab populations, but is rare elsewhere (Bose et al., 2000). |