Endocrine Abstracts

Congenital adrenal hyperplasia (CAH), with an autosomal recessive inheritance, is characterized by impaired or absent activity of one of the enzymes required for the biosynthesis of cortisol. In about 95%, CAH is due to mutations in the 21-hydroxylase gen (CYP21) and the lack of 21-hydroxylase results in a deficiency of cortisol, often also aldosterone and excess of androgens. The prenatal exposure of androgens virilise the female foetus in varying degrees depending on the level of enzyme activity, which correlates well to the mutation spectrum. CAH is clinically divided into classic CAH (SW), simple virilising CAH (SV) and non-classic (NC) disease. In classic CAH lifelong glucocorticoid and often also mineral corticoid treatment are mandatory, whereas in the NC form treatment is given when patients have symptoms such as hirsutism, oligo-amenorrhoea or infertility. Patients with SW and SV have often been subjected to repeated acts of surgery correcting the virilised genitalia low pregnancy rates have been reported in women with CAH, especially the classical form. The reason for this will be discussed. All published reports include small number of pregnancies. Outcome with regard to new-born health including follow-up are usually satisfactory. There are scanty information on the progress of pregnancy and the health of the mothers. Need for change in medication during pregnancy varies. Hydrocortisone and prednisolone are the drugs of choice, dexamethasone is not recommended as this drug is passing the placenta. A majority of the women were delivered by CS. In a Swedish material of 25 pregnancies, 20% of the mothers developed gestational diabetes, significantly different compared to a matched healthy control group. An unexpected finding was the sex-ratio in the children born to CAH mothers, more girls than boys. Recommendations for the management of CAH during pregnancy will be discussed stressing the need for individualised treatment and expertise care.