Child rate, pregnancy outcome and ovarian function in females with classical 21-hydroxylase deficiency

Background. Ovulatory disorders and decreased fertility rates have been fou nd in females with classical 21-hydroxylase deficiency (21-OHD). We analyze d the pregnancies of 29 females with classical 21-hydroxylase deficiency an d examined 16 of these women in a cross-sectional study. Methods. The child rate of the 29 patients was compared with that in the ge neral Finnish female population with equal age distribution. The cross-sect ional study of the 16 patients included a standardized questionnaire, clini cal examination, ultrasonography of the internal genitalia, basal measureme nts of serum steroids, sex hormone binding globulin, PRL, gonadotropins and plasma ACTH. Results. The child rate was significantly lower than that in the general po pulation (0.34 vs 0.91; p < 0.001). A total of 13 pregnancies could be regi stered. From these pregnancies, ten healthy children were born, all for fem ales with a simple virilizing disease. None of the nine females with salt w asting 21-OHD had any children or had sought treatment for infertility. In the cross-sectional study, females with regular menses (5/16; 31%) had well controlled adrenal androgen secretion and they had normal serum progestero ne concentrations whereas the females with irregular menses (11/16; 69%) we re often undersubstituted and presented with high serum progesterone concen tration in the follicular phase. Polycystic ovaries could not be detected i n any of these patients. Conclusions. Females with simple virilizing 21-OHD often-have irregular men ses but their final prognosis for fertility seems to be better than previou sly reported. On the contrary, our study confirms the extremely low child r ate in the salt wasting group.