Background: Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders which lead to impairment of steroid biosynthesis in the adrenals and gonads. 21-hydroxylase deficiency (21OHD) is the most common form of CAH (95%), followed by 11β-hydroxylase deficiency (11OHD) and 3β-dehydrogenase steroid dehydrogenase type 2 deficiency (3bHSD2). LCMSMS based steroid analysis has become an increasingly important method for steroid analyses in Paediatric Endocrinology in the last few years.
Objective and hypotheses: Determination of plasma steroid profiles by LCMSMS comprising adrenal and gonadal steroid hormones in different types of CAH.
Method: LCMSMS based plasma steroid profiling was performed in 18 cases with molecular proven CAH (21OHD, n=11; 11OHD, n=4; and 3bHSD2, n=3). Steroid analyses were originally initiated because of either pathological screening, ambiguous genitalia or late onset hyperandrogenism. In addition to the determination of 12 adrenal and gonadal steroid hormones, 17-hydroxypregnenolone (17OHPreg) and DHEAS were measured. All values were compared to our previously established age- and sex-specific reference ranges. To allow for age independent evaluations and comparisons of steroid profiles, multiples of median (MOM) of the specific reference ranges were calculated.
Results: In the 11 patients with 21OHD, a 30-fold MOM for 17-hydroxyprogesterone and a ten-fold MOM for 21-deoxycortisol was present. The four individuals with 11OHD showed a 100-fold MOM for 11-deoxycostiol and a ten-fold MOM for deoxycorticosterone. In the three patients with 3bHSD2, a 100-fold MOM for 17-OHPreg and a ten-fold MOM for DHEAS was found.
Conclusion: LCMSMS based profiling of plasma steroids leads to characteristic steroid patterns and is a reliable tool for diagnosing different forms of CAH. Applying MOMs allows age-independent comparisons and easy identification of pathologic cases.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology