Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR. Classic (CLCAH) and nonclassic (NCLCAH) forms were reported as total and partial deficiencies, respectively, of adrenal and gonadal steroid hormones. The rarity of LCAH has precluded large-scale epidemiological and clinical investigations.
To determine the epidemiological and clinical characteristics of two forms of LCAH.
A multicenter cross-sectional cohort study in Japan on December 1, 2017.
Fifty-seven patients with LCAH (median age, 23.7 years; range, 0.0-47.5 years).
Patient demographics, STAR genotype, Quigley grade, endocrinological and imaging data, treatment, and prognosis.
Fifty-three and four patients fulfilled definite and probable diagnostic criteria for LCAH, respectively. When NCLCAH was defined as either Quigley grade 1 in XY karyotype, no episode of salt losing or requirement of fludrocortisone, or onset of primary adrenal insufficiency (PAI) at 1 year or older, all patients were divided into 43 patients with CLCAH (75.4%), 11 with NCLCAH (19.3%), and 3 with unclassified LCAH (5.3%). All of the patients with CLCAH and 7 of 11 NCLCAH (63.6%) were treated with fludrocortisone. CLCAH was diagnosed at significantly younger age than NCLCAH (median, 0.0 vs 4.0 years). STAR-Arg272Cys or -Met225Thr was identified only in NCLCAH (8/11, 72.7%).
We demonstrated the relative proportions and clinical and molecular characteristics of NCLCAH and CLCAH in Japan. These criteria for NCLCAH correspond to all previous and our cases whose masculinization of the external genitalia, ability of mineralocorticoid production, and onset of PAI were described.