Can women with classic Congenital Adrenal Hyperplasia (CAH) become pregnant?

Pregnancy in Women with Classic Congenital Adrenal Hyperplasia (CAH)

Women with classic congenital adrenal hyperplasia (CAH) can become pregnant with appropriate medical management, despite historically low fertility rates. 1, 2

Fertility Status in Classic CAH

• Women with classic CAH have decreased fertility compared to the general population, primarily due to hormonal imbalances causing menstrual irregularities and anovulation 1
• Fertility issues are more pronounced in salt-wasting forms of CAH compared to simple virilizing forms 2
• The main factors contributing to reduced fertility include:
  • Elevated androgen levels interfering with normal follicular development 2
  • Impaired sex steroid production affecting endometrial development 2
  • Psychosexual factors and decreased sexual activity in some patients 2

Management to Improve Fertility

• Optimal glucocorticoid therapy is the cornerstone of fertility management in women with classic CAH 3

• Recommended approach for women with CAH desiring pregnancy:

  • Optimize glucocorticoid treatment to normalize androgen and progesterone levels in the follicular phase 2
  • Consider combination therapy with both glucocorticoids (hydrocortisone) and mineralocorticoids (fludrocortisone) 3
  • Administer hydrocortisone in three daily doses at 8-hour intervals for optimal suppression of adrenal androgens 3
  • Monitor treatment using morning salivary 17-hydroxyprogesterone levels and plasma renin concentrations 3

• For women who remain anovulatory despite optimal adrenal suppression:

  • Ovulation induction medications may be necessary 1
  • Gonadotropins can be used if initial ovulation induction fails 1
  • Assisted reproductive technologies including IVF are options for those with persistent infertility 2, 4

Pregnancy Management

• Once pregnant, women with classic CAH have a high probability of successful outcomes with appropriate management 4
• Key aspects of pregnancy management include:
  • Regular monitoring of adrenal steroid replacement and androgen suppression throughout pregnancy 4
  • Adjustment of glucocorticoid dosing during pregnancy, delivery, and postpartum periods 1
  • Close monitoring for potential complications such as adrenal crisis 1
  • Vigilance for pregnancy-specific complications including chorioamnionitis, maternal hypertension, gestational diabetes, and increased risk of cesarean section 1

Preconception Considerations

• Preconception genetic testing and counseling with a high-risk obstetrics specialist is strongly recommended 1
• Options for couples concerned about having a child with CAH include:
  • In vitro fertilization with preimplantation genetic testing 1
  • Prenatal diagnosis options during pregnancy (chorionic villus sampling or amniocentesis) 1

Delivery and Postpartum Care

• Stress-dose steroids are typically required during labor and delivery 1
• Close monitoring for adrenal insufficiency in the postpartum period is essential 1
• Newborns should be examined for signs of CAH and adrenal insufficiency 4

Contraception When Pregnancy is Not Desired

• Women with CAH who do not desire pregnancy should be offered appropriate contraception options 1
• Contraceptive choices must be individualized based on the patient's specific CAH presentation and other health factors 1

While fertility challenges exist for women with classic CAH, multiple studies have documented successful pregnancies with appropriate medical management, particularly when combination therapy with glucocorticoids and mineralocorticoids is employed 3, 4, 5.