ESPE Abstracts

Background & Aim: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive condition characterized by inadequate production of cortisol and aldosterone and accumulation of androgens. Beta thalassemia is an autosomal recessive condition caused by defective beta-globin resulting in accumulation of unbound alpha globin chains leading to ineffective erythropoiesis. We are reporting an unusual case of CAH due to 21-hydroxylase deficiency with co-existing beta thalassemia major.

Case Summary: We are reporting a young boy, born to consanguineous parents, with history of beta thalassemia major in one sibling. He was presented at 20^th day of life with failure to thrive, vomiting and loose motions and was found to be dehydrated with normal male like genitalia (bilateral testis palpable in scrotum). Initial investigation revealed severe hyponatremia (128 meq/l), hyperkalemia (8.8 meq/l), metabolic acidosis with raised 17-OH progesterone (> 320 nmol/l), all suggestive toward salt looser CAH. Later genetical analysis confirmed CAH (21-hydroxylase deficiency) due to homozygous pathogenic CYP21A2 variant c.955C>T p.(Gln319*). After initial stabilization with rehydration and IV hydrocortisone he was started on long term oral hydrocortisone (20mg/m²/day) and fludrocortisone (0.1mg/day). At 11 months of age, he presented again with marked pallor and hepatosplenomegaly. Full blood count showed Hb of 5.6 g/dl with reticulocytes count of 2.8 % and peripheral smear showing anisocytosis and poikilocytosis. Hb electrophoresis showed HBA (14.6%), HBA2 (4.9%) and HBF (80.5%) suggestive of beta thalassemia major. He was started on folic acid supplementation and frequent transfusions with plan to monitor ferritin level.

Conclusion: Congenital adrenal hyperplasia due to CYP21A2 mutation and Beta thalassemia are two different autosomal recessive condition. We are reporting rare co-existence of two autosomal recessive condition in one patient. This high penetration of two different autosomal recessive condition could be due to increase prevalence of consanguineous marriages in our country, Pakistan.