Genotype‐phenotype association in congenital adrenal hyperplasia due to 21‐hydroxylase deficiency in children
Authors' conclusion
The relationship between the genotype and the phenotype of both forms of CAH exists indirectly, through the activity of the 21-hydroxylase enzyme. Mutations in the CYP21A2 gene affect the level of the synthesized enzyme, which, in turn, determines the degree of hormone production in the blood.
Study context
- Population
- Children aged 0–18 years with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency from 7 regions of Kazakhstan, mixed ethnic origins (35 Kazakhs, 70.0%); mean age 5.7 years ±3.9
- Participants
- 50 children
- Exposure
- Genotype severity groups vs phenotype
- Outcome
- Genotype–phenotype correspondence
Main finding
As reported in the abstract
- High correlation in groups with mutations of high and moderate severity (0 and A)
- Group C showed strong phenotype variability
- Genotype–phenotype correspondence decreased with decreasing disease severity
Observational data: associations, not effects.
Further findings
Phenotypic form
- Phenotypic form — TART syndrome diagnosed in boys with salt-wasting (SW)
- 1
Original publication
Genotype‐phenotype association in congenital adrenal hyperplasia due to 21‐hydroxylase deficiency in children. Clin Endocrinol (Oxf). Published 15 December 2022. doi:10.
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