Induction of artificial endometrial cycles with oestradiol implants and injectable progesterone: establishment of a viable pregnancy in a woman with 17-a-hydroxylase deficiency

Abstract

Repeated attempts with oral oestrogens and injectable progesterone failed to induce secretory endometrium in a woman with 17-alpha-hydroxylase deficiency. The insertion of s.c. 17-beta-oestradiol implants dramatically improved the endometrial response and enabled the establishment of endometrial maturation. A viable pregnancy was achieved after the uterine transfer of in-vitro fertilized donated eggs.

Disorders of Sex Development—Novel Regulators, Impacts on Fertility, and Options for Fertility Preservation

“…In non-classical forms of CAH due to partial enzyme deficiencies, live-birth rates are higher (63-90%) than classical CAH and are similar to age-matched controls [24]. In more rare forms of 46,XX CAH that may also affect gonadal steroid production, fertility is rarely described, other than in few case reports of a spontaneous pregnancy, e.g., in an individual with 3β-hydroxysteroid dehydrogenase deficiency [148], and successful in vitro fertilization (IVF) in individuals with 17α-hydroxylase deficiency [149][150][151], and another with congenital lipoid adrenal hyperplasia [152]. In CAH, infertility may occur as a result of anovulation, menstrual irregularities, thickening of cervical mucus, and anatomical factors [132].…”

Disorders of Sex Development: Classification, Review, and Impact on Fertility

“…In nonclassical forms of CAH, due to partial enzyme deficiencies, live birth rates are higher (63%-90%) than in classic CAH and are similar to age-matched controls [151]. In other, rarer forms of CAH (e.g., female 46,XX) in which gonadal steroid production may also be affected, fertility is rarely described, except in some cases of reports of spontaneous pregnancy; for example, in an individual with a severe 11β-hydroxylase deficiency [152] and in successful in vitro fertilization (IVF) in individuals with 17α-hydroxylase deficiency [153][154][155], as well as in another individual with congenital LCAH [156]. In CAH (46XX) women, infertility can occur as a result of anovulation, menstrual irregularities, thickening of the cervical mucus, and anatomical factors [39], but there are also other important psychosocial factors that affect fertility in people with CAH and that may include the lack of a stable relationship or a smaller number of those seeking pregnancy compared to the general population [150].…”

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

“…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.…”

“…Assisted reproductive techniques have been tried in the women but mostly without any success. 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.…”