A study of congenital lipoid adrenal hyperplasia in two pedigrees

The clinical features and laboratory data of two patients with congenital lipoid adrenal hyperplasia(CLAH)were collected. The genomic DNA was extracted from the peripheral blood white cells in the two patients and their family members and the STAR gene was screened for mutations by PCR and Sanger sequencing. Patient 1 was a girl aged 2 years and 8 months, and she visited us because of continual cyanosis for more than two years. Physical examination showed no obvious pigmentation or clitoral hypertrophy, and Tanner stage was B1P1. Clinical examination revealed serum ACTH 1 284.1 pg/ml and 17α-hydoxyprogesterone(17-OHP)0.54 ng/ml, with Karyotype 46, XX. Genetic analysis showed compound heterozygous mutations of c. 201_202delCT and c. 229C>T in the STAR gene. Her father carried heterozygous c. 201_202delCT mutation, and her mother showed heterozygous c. 229C>T mutation. Patient 2 was a girl aged 22 years and referred to us because of dark skin for more than 21 years. Physical examination revealed generalized hyperpigmentation, with Tanner stage B5P2. Hormone examination showed ACTH>2 000 pg/ml and serum cortisol 0.77μg/dl. Karyotype analysis revealed 46, XX. Genetic analysis found compound heterozygous mutations of c. 64+ 1G>C and c. 707_708delinsCTT in the STAR gene, which descended from her father and mother respectively. Of note, c. 64+ 1G>C is a novel splicing mutation of STAR gene. (Chin J Endocrinol Metab, 2018, 34: 308-311) Key words: Congenital lipoid adrenal hyperplasia; Steroidogenic acute regulatory protein