Deutsch
IllnessAromatase excess syndrome
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Aromatase excess syndrome
ID
AS4900
Number of genes
1
Accredited laboratory test
Examined sequence length
1,6 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Sanger
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| CYP19A1 | 1512 | NM_031226.3 | AR |
Informations about the disease
Clinical Comment
Increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.
Synonyms
- Alias: CYP19A1 excess (CYP19A1)
- Allelic: Aromatase deficiency (CYP19A1)
- Allelic: Pseudohermaphroditism female, due to placental aromatase deficiency (CYP19A1)
- Sympt.: Gynecomastia, hereditary
- Sympt.: Hereditary prepubertal gynecomastia
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined