A case of atypical cholesterol side chain defect possibly caused by CYP11A1 heterozygous mutation / 中华内分泌代谢杂志

This paper reports a case of atypical cholesterol side chain enzyme deficiency caused possibly by CYP11A1p.A359V heterozygous mutation. The patient was diagnosed as congenital adrenal hyperplasia because he was born with gonadal dysplasia and there were manifestations of salt losing and pigment changing, combined with high level of plasma ACTH. Further genetic screening revealed CYP11A1p.A359V heterozygous mutations in patients with a final diagnosis of cholesterol side chain enzyme deficiency which was treated effectively to glucocorticoid.