Successful Live Birth in a Woman With 17α-Hydroxylase Deficiency Through IVF Frozen-Thawed Embryo Transfer

Abstract

A successful live birth was achieved in a woman with 17-hydroxylase deficiency through IVF, cryopreservation of all embryos, and frozen-thawed embryo transfer after adequate endometrial preparation.

Classic congenital adrenal hyperplasia and its impact on reproduction

“…The patient received dexamethasone and GnRH agonists, hMGs, and hCG during her controlled ovarian hyperstimulation. In 2016, another successful pregnancy was described in a Brazilian woman with 17OHD (40). The first IVF cycle failed despite the production of viable embryos.…”

Successful fertility outcome in a woman with 17ɑ‐hydroxylase deficiency

“…1 However, there is one report of a 33-year-old woman with 17OHD and in vitro fertilized (IVF)-donated oocytes resulting in a live birth, 3 and another successful live birth in a 26-year-old woman with IVF using her own oocytes. 4 Another successful case with IVF with her own oocytes is here presented, but this is also the oldest case (43 years old) ever in 17OHD with a live birth.…”

“…Low rates of pregnancy have consistently been reported in CAH, 5 but most cases of women with CAH who tried to become pregnant in our centre have succeeded, sometimes after some medical help. Fertility in 17OHD seems more impaired, as almost no cases with live birth have been published, 3,4 than in the most common variant of CAH, 21-hydroxylase deficiency. The most prominent mechanism is probably the hypergonadotropic hypogonadism with anovulation, but other mechanisms may also play a role such as lack of aromatizable substrates, elevated progesterone and uterine dysfunction.…”

Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations

“…Appropriate sex steroid replacement regimes, i.e., estrogen with progestin in 46XX/46XY phenotypic females and testosterone replacement in 46XY phenotypic males, are required during adolescence for pubertal induction and during adult life to avoid metabolic complications of hypogonadism [9,20]. Bianchi et al recently reported the first case of successful singleton live birth with IVF in a woman with 17OHD, using her own oocytes, but there is no report of successful live birth without IVF [26]. Thus, the fertility potential is very low and our case did not have any children.…”