Romy de Kroon1, Renée de Mutsert2, Raymond Noordam2, Frits Rosendaal2, Wjera Wickenhagen1, Jacquelien Hillebrand1, Martin den Heijer5, Annemieke Heijboer1
(1) Amsterdam UMC, Endocrine Laboratory, department of Laboratory Medicine, Amsterdam, The Netherlands. (2) Leiden University Medical Center, Leiden, The Netherlands. (3) Amsterdam UMC, Endocrine Laboratory, department of Laboratory Medicine, Amsterdam, The Netherlands. (4) Amsterdam UMC, Endocrine Laboratory, department of Laboratory Medicine, Amsterdam, The Netherlands. (5) Amsterdam UMC, department of Internal Medicine, Amsterdam, The Netherlands. (6) Amsterdam UMC, Endocrine Laboratory, department of Laboratory Medicine, Amsterdam, The Netherlands.
Background:
The prevalence of non-classical congenital adrenal hyperplasia (NCCAH) is estimated to be 0.1-0.2% in the Netherlands, mostly established using serum 17-hydroxyprogesterone (17-OHP) concentrations. However, it could be questioned whether this prevalence is accurate as 17-OHP measurement does not reflect optimal sensitivity and specificity for the diagnosis of NCCAH. Recently, 21-deoxycortisol (21-DOCL) has been proposed to be a valid diagnostic discriminator for both classical and non-classical CAH.
Objective:
To establish the prevalence of NCCAH in the Netherlands using serum 21-DOCL concentrations.
Methods:
Steroid hormone concentrations were measured using LC-MS/MS in participants from the Netherlands Epidemiology of Obesity (NEO) study, which contained an oversampling of participants with overweight and obesity. We examined 21-DOCL concentrations in participants not using corticosteroids (3,416 women and 3,096 men) and used a cut-off value of 0.5 nmol/L for the diagnosis NCCAH. To rule out potential selection bias of our overweight population, prevalence rates were calculated by weighing toward distribution of Body Mass Index in the general population.
(Preliminary) results:
Based on 57 individuals with a 21-DOCL concentration ≥0.5 nmol/L, the weighted prevalence was 0.94% [95% CI 0.65%-1.35%] in this population. A sub analysis showed a prevalence of 0.86% [95% CI 0.49%-1.50%] in women and 1.04% [95% CI 0.65%-1.66%] in men. When comparing the groups of participants with 21-DOCL concentrations ≥0.5 nmol/L to those with lower 21-DOCL concentrations, mean androstenedione and 17-OHP concentrations were significantly higher in men and women(p<.0001).
Conclusion:
The prevalence of NCCAH established based on serum 21-DOCL concentrations seems to be 5- to 10-fold higher than the previously estimated prevalence based on serum 17-OHP concentrations in the general population. This is relevant since, in women particularly, there might be an underdiagnosis of NCCAH due to overlapping symptoms between NCCAH and polycystic ovary syndrome.