Dumic M, Janjanin N, Ille J, Zunec R, Spehar A, Zlopasa G, Francetic I, New M I
Department of Paediatrics, University Hospital Centre, Zagreb, Croatia.
J Pediatr Endocrinol Metab. 2005 Sep;18(9):887-95. doi: 10.1515/jpem.2005.18.9.887.
Despite earlier detection, treatment, and surgical advances, fertility prognosis in women with classical 21-hydroxylase deficiency (21-OHD) is still low, especially in the salt-wasting (SW) form.
We analysed the course and outcome of four pregnancies in two simple virilizing (SV) and one SW patient.
The evaluation of carrier status indicated that all three fathers had two normal CYP21 genes. During the pregnancy, the dose of prednisolone was increased in one of the SV patients and the SW patient. In the SW patient who developed pre-eclampsia, the dose of fludrocortisone was also increased. Three patients gave birth to a total of four healthy girls who were heterozygotes for 21-OHD with normal genitalia (one by vaginal delivery and three by Caesarean section). Family studies revealed that the mother of the SW patient has nonclassical 21-OHD.
Improving a low birth rate in females with SW 21-OHD remains a problem and new approaches are required. If the mother has 21-OHD (even nonclassical 21-OHD), pre-conception counselling and paternal genotyping are advisable and prenatal dexamethasone therapy should be considered.
