Mothers with congenital adrenal hyperplasia and their children: outcome ofpregnancy, birth and childhood

Objectives Fertility rates in women with congenital adrenal hyperplasia (CA H) are reported to be poor, but few data are available. We assessed rates a nd course of pregnancy, mode of delivery and long-term outcome of offspring from women with CAH. Design A large cohort of women with CAH due to 21-hydroxylase deficiency ha d initially been diagnosed and followed at one centre. Those women who had given birth were contacted. Information was gathered from hospital records, direct patient contact, structured questionnaire and the Documentation of Pregnancy and Preventive Care Booklets. Results Between 1978 and 1998, 18 women with CAH (one salt wasting, 12 simp le virilizing, five nonclassical) had given birth to 31 children (18 female s, 13 males). Delivery was by Caesarean section in 16 out of the 31 childre n. None of the female newborns was masculinized. Twenty-nine children were born at term, five children were small for gestational age (SGA). Postnatal development was basically normal in all children; 18 are now older than 10 years, seven are between 5 and 10 years old, six are less than 5 years old . Conclusions Fertility is reduced in females with CAH, especially those with the severe or salt wasting phenotype. In those women with CAH who do conce ive, course and outcome of pregnancy is mostly uneventful, although the rat e of SGA offspring may be increased. Psychomotor and somatic long-term deve lopment of the children was within normal limits.