A successful live birth from a 17α-hydroxylase/17,20-lyase deficiency mother by the in vitro fertilization frozen-thawed embryo transfer

A 24-year-old Chinese female was manifested by the primary infertility and primary amenorrhea, sexual infantilism, recurrent ovarian cysts and hypertension. Genetic analysis diagnosed this patient as 17α-hydroxylase and 17,20-lyase deficiency (17OHD) as she harbours a homozygous c.707T>G mutation in exon 4 of the CYP17A1 gene, which resulted in a substitution of amino acid valine (V) at position 236 to glycine (G) (V236G). In vitro fertilization (IVF) frozen-thawed embryo transfer under luteal-phase ovarian stimulation protocol was then recommended due to the complexity of the steroidogenic disorder caused by 17OHD. Other treatment included glucocorticoid administration to suppress the elevation of progesterone, endometrial preparation with exogenous steroids and subsequent transfer of frozen-thawed embryos. At the 29th week of pregnancy, a caesarean section was performed due to the diagnosis of haemolysis elevated liver enzymes low platelets (HELLP) syndrome. A live normal female newborn was delivered with Apgar score 1/4 and 780 g in body weight. The new-born was discharged in a good condition 7 weeks after delivery. This outcome supports that 17OHD females still could have a successful pregnancy and delivery with adequate hormonal control and endometrial preparation. Luteal-phase ovarian stimulation is proved to be a convenient and time-saving approach to retrieve oocytes for these patients. However, 17OHD should be closely monitored when females are pregnant for better management of pregnancy complications and neonatal care.