ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) refers to a group of inherited genetic disorders involving deficiencies in enzymes that convert cholesterol to cortisol within the adrenal cortex. Deficiency of 21-hydroxylase is the most commonly defective enzyme. Affecting 1 of 8000 live births in KSA. It requires life-long steroid replacement therapy in form of glucocorticoid and mineralocorticoid replacement. Without appropriate monitoring, 21-OH deficiency may result in significant complications either from over or under replacement.

We have the privilege at KFSH-RC, Riyadh to follow a large cohort of patients with CAH. To the best of our knowledge there is no available published data from Middle East about the impact of CAH on adult patients.

The aim of our study is to assess the health status of adolescent and adults with 21-hydroxylase deficiency and the need for changes in current management of pediatric patients and to emphasize the importance for endocrine specialist care as adult.

Methodology: It is a retrospective study. We reviewed medical files of all 21 hydroxylase deficiency cases still undergoing follow-up checks in our clinics and who are above the age of 14 years. All clinical, biochemical, and genetic data were collected.

Results: Among the 101 patients involved in the study, 67% were females. Mean age for males is 16.84.6± (range: 15-30 years), while mean age for females is 20.37.2± (range: 15-41) . All cases of 46 XX 21 that had ambiguous genetalia were raised as females except 2 patients raised as males.52% of patients are on hydrocortisone,40% on prednisolone while 8% on dexamethasone. Only 60% of patients were compliant on therapy. 23% were severely short and 32% were obese.15% had primary amenorrhea and 29% of male patients had adrenal rest tumors.7% had hypertension .DM and dyslipidemia in 3% each. osteoporosis was present in 7%.

Conclusion: One third of our patients were short and obese and one third of ales had adrenal rest tumors. these were the most common complications that were related to poor compliance to treatment. Our data is comparable with data published from other centers of excellence. we recommend that these patients need to be followed by expert endocrinologist to treat these complications.