Fertility and pregnancy outcomes in women with nonclassic 21‐hydroxylase deficiency
Résumé
Introduction: Overall fertility and pregnancy outcomes in patients with nonclassic
congenital adrenal hyperplasia (NCCAH) have been poorly studied. It has been
suggested that hydrocortisone (HC) may decrease the time to conceive (TTC) and
the rate of miscarriage in these patients.
Objectives: To describe fertility and pregnancy outcomes in a large cohort of
NCCAH women. The secondary objective was to identify factors that could impact
reproductive outcomes, with a particular focus on HC dose and genetic status.
Design: Retrospective study in a referral center for congenital adrenal hyperplasia.
Patients and Measurements: One hundred seventy‐three female patients with
NCCAH confirmed by genetic testing, followed in our center between 2010
and 2019.
Results: Among the 173 patients, 95 women had a parental project, 86 of whom
presented 176 pregnancies, 56% under glucocorticoid (GC) treatment and 44%
without, and 76 women obtained 128 live births. Two‐thirds of the patients
regularized their cycle under GC treatment, with significant decrease of androgens
and progesterone levels. This treatment was associated with a shortening of TTC
(coef β = −.196, information coefficient [IC] = [−10.7; −0.91], p = .021). Androgen
levels and TTC were positively correlated to the rate of miscarriage (OR = 4.8,
IC = [1.15; 20.34], p = .021 for testosterone, OR = 1.4, IC = [1.05; 1.81], p = .02 for
androstenedione, and OR = 1.03, IC = [1.01; 1.06], p = .015 for TTC). There was no
difference in terms of obstetric outcomes between patients with or without GC
treatment. CYP21A2 genotype had no impact on pregnancy outcome or TTC.
Conclusions: Infertility is relative in patients with NCCAH. HC seems beneficial for
fertility and pregnancy outcomes, especially for patients with menstrual disorders
and high preconceptional androgen levels.