Pregnancy received in vitro fertilization treatment associated with non-classical 21-hydroxylase deficiency: 1 case report

Objective 21-hydroxylase deficiency (21-OHD) and 17α-hydroxylase deficiency (17-OHD) are two types of congenital adrenal hyperplasia (CAH). There are different subtypes according to the degree of hydroxylase deficiency and various clinical characteristics, which non-classical 21-hydroxylase deficiency and incomplete 17α-hydroxylase deficiency show mild characteristics. The rate of pregnancy with non-classical 21-OHD and incomplete 17-OHD are moderately reduced when compared with normal adult women. How to improve clinical outcome and the fertility are our key points. Methods This paper attached with a report of a client in our reproductive center who suffered fromnon-classical 21-OHD with cytochrome P450 family 17 subfamily A member 1 (CYP17A1), follicle stimulating hormone receptor (FSHR), luteinizing hormone receptor (LHCGR) gene polymorphism, analyzed the diagnoses and ovarian stimulation treatment. Result The patient had a good pregnancy outcome after a definite diagnosis by genotype test, treatment of high progesterone and individualized ovarian stimulation. Conclusion We aim to understand CAH and figure out the proper treatment which assists in achieving a pregnancy. Key words: Non-classical 21-hydroxylase deficiency (21-OHD); Gene polymorphism; Ovarian stimulation; Pregnancy