ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic defects in cortisol synthesis caused by the deficiency of 21-hydroxylase which convert 17-hydroxyprogesterone to 11-deoxycortisol. A variety of mutations in one or more genes encoding enzymes essential for cortisol synthesis leads to a spectrum of disorders and disease severity. In general, complete or nearly complete enzymatic defects result in overt adrenal insufficiency, and are conventionally referred to as “classic” CAH. In milder forms of the disease, also termed “late-onset” or “non-classic” CAH (NCCAH), partial enzymatic defects are overcome by ACTH elevation. These patients have compensated cortisol and aldosterone production. Among genotypic mutations that cause NCCAH are p.P453S and p.P30L. p.P30L is 1 of the 8 most common. Clinical features may include premature pubarche, medication-resistant cystic acne and accelerated growth with tall stature as children. However, these children may enter puberty early, with early epiphyseal closure, leading to short stature as an adult.

Case presentation: We report the clinical case of a 7-year-old girl which was compound heterozygote of 21-hydroxylase. Her parents were heterozygotes for NCCAH with the protein p.P453S (maternal mutation) and p.P30L (paternal mutation). Clinical examination revealed pubic hair (Tanner stage III) and the ultrasound revealed adrenal hyperplasia.

Conclusion: NCCAH is a relatively common disease, and it should be suspected and excluded in all women with PCOS-like phenotype, including hirsutism, acne, and menstrual abnormalities.