Successful live birth in a woman with partial 17α-hydroxylase/17,20 lyase deficiency: a case report.

BACKGROUND: 17a-hydroxylase/17,20-lyase deficiency (17-OHD) is a rare form of congenital adrenal hyperplasia caused by mutations in the CYP17A1 gene, resulting in impaired activity of the corresponding enzymes. Its typical manifestations include hypertension, hypokalemia, and disorders of sexual development. Cases presenting with atypical clinical manifestations are exceedingly rare and affected individuals are susceptible to being overlooked or misdiagnosed. Additionally, successful pregnancies in such cases have rarely been reported.

CASE PRESENTATION: We described a 28-year-old Chinese female diagnosed with partial 17-OHD, which was confirmed by genetic testing, and achieved a successful pregnancy through assisted reproductive technology. The onset was highly insidious, where she presented with infertility as the initial symptom, and an abnormally high level of progesterone and recurrent ovarian cysts were noted, without typical symptoms of 17-OHD. Further blood test demonstrated the low levels of testosterone, dehydroepiandrosterone, and androstenedione, and increased levels of 17-hydroxyprogesterone, follicle-stimulating hormone, luteinizing hormone, and adrenocorticotropic hormone. Genetic testing revealed that the patient harbored a rare compound heterozygous mutation in the CYP17A1 gene: c.1169C>G (p. Thr390Arg) and c.1073G>A (p. Arg358Gln). Following glucocorticoids standardization therapy, successful conception was achieved via in vitro fertilization and frozen embryo transfer with a live birth delivered at 41 weeks of gestation.

CONCLUSION: 17-OHD with atypical manifestations is extremely rare and highly prone to misdiagnosis. For women with infertility accompanied by abnormal progesterone and 17-hydroxyprogesterone levels, the possibility of 17-OHD should be ruled out. Standardized treatment with glucocorticoids and assisted reproductive technology could be considered when needed.