A rare case of congenital adrenal hyperplasia with Williams Syndrome

초록

Introduction) Congenital adrenal hyperplasia (CAH)is the most common cause of 46 XX disorder of sex Development(DSD). It is autosomal recessive disorder due to 21-hydroxylase deficiency (21-OHD). Mutation in CYP21A2 gene is main cause. Prevalence of CAH is 1 in 14,200 live births. Williams Syndrome is genetic developmental disorder caused by microdeletion of 7q11.23. It is characterized by typical face, friendly personality and developmental delay. Williams syndrome incidence is estimated to 1 in 7,500 to 18,000 people. We report a case which coexistence of CAH with Williams syndrome. Case) A 4 year 2 month-old girl was referred for evaluation of ambiguous genitalia. She had pubic hair and enlarged clitoris with no breast engorgement (SMR B1PH2). She had acnes on forehead and hyperpigmentation. She had wide mouth and small chin, broad nose with depressed nasal bridge. She had developmental delay including incomplete toilet training, delayed language development. She was very friendly to strangers. 17-OHP (1189 ng/dl , normal: 13-106)and ACTH(306pg/ml) were elevated . ACTH stimulation test result was on Table 1. CYP21A2 gene was tested for diagnosing CAH, CMA was done for diagnosing developmental delay. Compound heterozygote mutation was found in CYP21A2 gene (p.I173N and p.L481P) by PCR sequencing and MLPA. 7q11.23(72700524_74143060) x1 1.4MB microdeletion was found by CMA. She was diagnoses as congenital adrenal hyperplasia with Williams syndrome. Discussion) We report a case of congenital adrenal hyperplasia with Williams syndrome. Including congenital adrenal hyperplasia, it is uncommon for CAH to be accompanied by developmental disorder. Other comorbidity should be considered if there is developmental delay with CAH.