Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) represent a group of diseases in steroid biosynthesis, due to an enzyme lack in the transformation of cholesterol to cortisol. Women with menstrual dysfunction responds well to adrenocortical inhibition with prednisone, and the significant improvement of menstrual regularity is frequently noted. We report a case of successful pregnancy in a patient with CAH for the first time.

Case presentation: A 35-year-old woman with simple virilising form presented with amenorrhea and secondary infertility. Initialy, in 2013 she was diagnosed with secondary amenorrhea by polcystic ovary syndrome, and received for 3 years treatment with estrogens and progestatives. In 2016 the complete endocrine evaluation revealed a classic congenital adrenal hyperplasia based on high level of 17OH-progesteron and dynamic tests positive. The treatment was based for the next 4 years by Dexametasonum 0.5 mg/day and in September 2019 the pregnancy was confirmed by gynecologist. She was continued the treatment with prednisolone during pregnancy. Now she had 29 weeks of pregnancy and the fetus is monitorized very carefully by the gynecologist. There was a mild increase in the dose of prednisolone during pregnancy. There was no worsening of insulin resistance despite prednisolone administration. The baby is a boy on the genetic evaluation.

Conclusions: The correct diagnosis of female infertility should include the evaluation of 17OH progesterone for the application of a correct treatment that can lead to a pregnancy with normal evolution in women with 17 hydroxylase deficiency.