Abstract
Context
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED or APS-1) has a severe, unpredictable course. Autoimmunity and disease components may affect fertility and predispose to maternal and fetal complications, but pregnancy outcomes remain unknown.
Objective
To assess fetal and maternal outcomes and course of clinical APECED manifestations during pregnancy in women with APECED.
Design and setting
A multicenter registry-based study including five national patient cohorts.
Patients
321 females with APECED.
Main outcome measure
Number of pregnancies, miscarriages, and deliveries.
Results
Forty-three patients had altogether 83 pregnancies at median age of 27 years (range, 17–39). Sixty (72%) pregnancies led to a delivery, including two stillbirths (2.4%) and five (7.1%) preterm livebirths. Miscarriages, induced abortions, and ectopic pregnancies were observed in 14 (17%), eight (10%), and one (1.2%) of pregnancies, respectively. Ovum donation resulted in five (6.0%) pregnancies. High maternal age, premature ovarian insufficiency, primary adrenal insufficiency, or hypoparathyroidism did not associate with miscarriages. Women with livebirth had on average four APECED manifestations (range 0–10); 78% had hypoparathyroidism and 36% had primary adrenal insufficiency. APECED manifestations remained mostly stable during pregnancy, but in one case development of primary adrenal insufficiency led to adrenal crisis and stillbirth. Birth weights were normal in >80% and apart from one neonatal death of a preterm baby, no serious perinatal complications occurred.
Conclusions
Outcome of pregnancy in women with APECED was generally favorable. However, APECED warrants careful maternal multidisciplinary follow-up from pre-conceptual care until puerperium.