Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency.

Aims: 17α-Hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive disease caused by CYP17 gene mutations. This disease is clinically characterised by hypertension, hypokalaemia, sexual infantilism in females or pseudohermaphroditism in males, and adrenal hyperplasia. This study aims to investigate a rare case of 17OHD accompanied by both cystic ovaries and massive adrenal mass.

Methods: This study performed clinical, hormonal, radiological and genetic analyses. Blood samples were collected from the patient for the genetic test. Genomic DNA was extracted from peripheral blood leukocytes, and the coding sequence abnormalities of CYP17 were assessed using polymerase chain reaction and direct sequencing analysis.

Results: The genetic analysis of CYP17 revealed compound heterozygous mutations in the individual. One was a mis-sense mutation of c.1226 C > G, which changes codon 409 in exon 7 from proline (CCG) to arginine (CGG). Another was a mutation of p.Val311Asp,fs,330X, which was first reported in a compound heterozygote mutation of Y329fs and V311fs from a Chinese patient.

Conclusion: This study presented a rare case of 17OHD accompanied by both cystic ovaries and massive adrenal mass. This study obtained significant information on the genotype-phenotype correlation of 17OHD.