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

Ovulatory disorders and decreased fertility rates have been found in females with classical 21-hydroxylase deficiency (21-OHD). We analyzed the pregnancies of 29 females with classical 21-hydroxylase deficiency and examined 16 of these women in a cross-sectional study.

The child rate of the 29 patients was compared with that in the general Finnish female population with equal age distribution.The cross-sectional study of the 16 patients included a standardized questionnaire, clinical examination, ultrasonography of the internal genitalia, basal measurements of serum steroids, sex hormone binding globulin, PRL, gonadotropins and plasma ACTH.

The child rate was significantly lower than that in the general population (0.34 vs 0.91; p<0.001). A total of 13 pregnancies could be registered. From these pregnancies, ten healthy children were born, all for females with a simple virilizing disease. None of the nine females with salt wasting 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 progesterone concentrations whereas the females with irregular menses (11/16; 69%) were often undersubstituted and presented with high serum progesterone concentration in the follicular phase. Polycystic ovaries could not be detected in any of these patients.

Females with simple virilizing 21-OHD often have irregular menses but their final prognosis for fertility seems to be better than previously reported. On the contrary, our study confirms the extremely low child rate in the salt wasting group.