Genotype-Phenotype Correlation and Feminizing Surgery in Danish Children with Congenital Adrenal Hyperplasia
Authors' conclusion
Milder genotypes do not accurately predict CAH phenotype or prenatally reject serious outcomes such as virilization. The frequency of early genitoplasty is high among females with prenatal virilization. The delayed diagnosis and non-diagnosis of especially males with mild CAH advocate for a more prominent role of genetic testing in the diagnostic and screening for CAH.
Study context
- Population
- Patients diagnosed with congenital adrenal hyperplasia (CAH) at age ≤18 years between 1943 and 2018, identified in Danish national registries and validated by medical record review; classified as salt-wasting (SW), simple virilizing (SV) or non-classic (NC) CAHsub-cohort n = 159
- Participants
- 379 patients
- Outcome
- Genotype-phenotype correlations
Methodological detailsnationwide
- Nationwide
Main finding
As reported in the abstract
Null genotype and SW
100%
A genotype and SW
94%
B genotype and SV
51%
C genotype and NC
75%
Observational data: associations, not effects.
Further findings
Female-to-male ratios (sub-cohort, diagnosed 1999–2018)
- SW
- 1.5
- SV
- 1.1
- NC
- 2.3
- Sub-cohort n = 159, females = 99
Symptoms at diagnosis
- Symptoms of precocious pseudopuberty dominated
- 39%
Bone age at diagnosis
- Males presented with significantly advanced bone age (p = 0.0009)
Virilization of external genitalia in females · at diagnosis
- Virilization present at diagnosis
- 53% (n = 53)
- Virilization developed prenatally
- 46% (n = 46)
- Virilization identified in both mild and severe genotypes
Early feminizing genitoplasty in prenatally virilized females
- Underwent early feminizing genitoplasty
- 85%
Original publication
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