From the Research
Treatment for Infertility in CAH Patients
The treatment for infertility in patients with Congenital Adrenal Hyperplasia (CAH) involves a multi-faceted approach, including:
- Administration of sufficient substitution dose of glucocorticoids to resolve androgen excess-associated anovulatory cycles and increased circulating progesterone concentrations during the follicular phase 1
- Optimization of glucocorticoid and/or mineralocorticoid replacement to normalize androgen and progesterone levels in the follicular phase, allowing for natural conception in most cases 2
- Controlled ovarian hyperstimulation, followed by estrogen replacement and IVF for patients with impaired sex steroid production 2
- Suppression of adrenal androgen secretion as the first line of therapy toward spontaneous conception in both sexes 3
- Individualized hormonal therapies, psychosexual evaluation, and assisted reproductive technology to improve fertility and pregnancy outcomes in women with classic CAH 2
Management of CAH During Preconception, Pregnancy, and Postpartum
The management of CAH during preconception, pregnancy, and postpartum involves:
- Optimizing glucocorticoid treatment before conception 4
- Offering contraception options if pregnancy is not desired 4
- Preconception genetic testing and counseling with a high-risk obstetrics specialist 4
- Adjusting glucocorticoids during pregnancy, at the time of delivery, and postpartum, and monitoring for adrenal crisis 4
- Considering prenatal screening and diagnosis options, such as maternal serum cell free-DNA, chorionic villus sampling, and amniocentesis 4
Challenges and Considerations
The challenges and considerations in treating infertility in CAH patients include:
- Virilization of external genitalia, altered psychosocial development, and hormonal disorders 1
- Increased circulating progesterone concentrations during the follicular phase, impacting endometrial receptivity, tubal motility, and cervical thickness 1
- Risks and benefits of available steroid treatment options, including fetal androgen exposure in utero and maternal and fetal side effects of therapy 5
- Maternal and fetal risks, such as chorioamnionitis, maternal hypertension, gestational diabetes, cesarean section, and small for gestational age infants 4