Classic congenital adrenal hyperplasia and its impact on reproduction

Abstract

Women with classic congenital adrenal hyperplasia (CAH) can suffer from impaired fertility rates as a result of increased androgen secretion or impaired sex steroid production. In virilizing CAH forms, such as 21-hydroxylase and 11b-hydroxylase deficiency, the low reported pregnancy rate is mainly secondary to a diminished desire to conceive. Optimal glucocorticoid and/or mineralocorticoid replacement, sufficient to normalize androgen and P levels in the follicular phase, allows natural conception in most cases. The remaining CAH forms exemplified by StAR, P450scc, P450-oxidoreductase, and 17a-hydroxylase/17-20 lyase deficiencies are associated with impaired sex steroid production. Several factors are involved in the true low fertility rate in this group: folliculogenesis arrest, uterine hypoplasia, and inadequate endometrial thickness related to aberrant androgen, estrogen, and P secretion. There are several reports of successful term pregnancies achieved through controlled ovarian hyperstimulation, followed by estrogen replacement and IVF. Progress in female genitalia reconstructive surgery, individualized hormonal therapies, psychosexual evaluation, and assisted reproductive technology have improved fertility and pregnancy outcomes in women with classic CAH. Finally, successful gestational management in CAH patients requires the close coordination of care between endocrinologists and obstetricians.

Exploring the roles of fecundity-related long non-coding RNAs and mRNAs in the adrenal glands of small-tailed Han Sheep

“…In the pituitary, luteinizing hormone levels were significantly reduced in mice chronically exposed to corticosterone [18]. At the level of the adrenal gland, women with congenital adrenal hyperplasia can suffer from impaired fertility or impaired steroid secretion caused by increased androgen levels [19]. High concentrations of glucocorticoids have an inhibitory effect on the activities of GnRH-secreting neurons, pituitary gonadotropins and gonads [12].…”

Identity, Sexuality, and Parenthood in Women with Congenital Adrenal Hyperplasia

“…The causes of low fertility rate among women with CAH have been explained by such mechanisms as a low desire to conceive, insufficient hormonal control, same-sex relationships, and unsatisfactory surgical outcomes. 19,21,38,39 It is not uncommon for women with CAH to be worried about their fertility. 40 If the low fertility rate previously reported among women with CAH 19,21,41 is partly due to misinformation or lack of information, these women need more reliable information on fertility, pregnancy, and inheritance.…”

A spontaneous pregnancy and live birth in a woman with primary infertility following the excision of an ovarian adrenal rest tumor: A rare case

“…Androgens can also directly inhibit folliculogenesis by having a negative effect on aromatase activity in granulosa cells. Additionally, progesterone hypersecretion in OARTs can affect the quality of cervi- cal mucus and sperm penetration, accelerate endometrial maturation, reduce endometrial receptivity, decrease implantation, and exert negative effects on oocyte quality [9].…”