Endocrine Abstracts

Background: Congenital adrenal hyperplasia (CAH) is one of the autosomal recessive disorders resulting from CYP 21(21-hydroxylase) deficiency. Testicular adrenal rest tumours (TARTs) are common in CAH, due to hypersecretion of ACTH. These lesions inside the testis are bilateral and multiple. TARTs may lead to structural damage and their tumours may be mistaken for Leydig cell tumour. Because of their locations; TART may cause seminiferous obstruction and infertility. History: 6-year old boy presented with the early growth of pubic hair, the condition started at age of four years when his parents noticed that their child has developed pubic hair. They also noticed that he is taller than his siblings with abnormal behaviour and deepening of the voice. There is a history of sudden death of his brother when he was 22 days old. The testicular examination was normal. Physical examination revealed the development of pubic hair (stage 4) and adult scrotum. Diagnosis and Treatment: His random 17OH progesterone was 60.80 mg/ml (increased by more than 60 folds, repeated result for 17OH progesterone showed an increase by more than 20 folds). U/S and MRI showed testicular tumours keeping with TARTs. We started the patient on HC tabs with the consultation of a urologist. Continuous follow up of these tumours were done.

Conclusion: Giving the clinical presentation, biochemical profile and MRI findings, the diagnosis is keeping with CAH complicated with TARTs. A multidisciplinary approach with the involvement of endocrinologist, pathologist and urologist is of great importance for the correct diagnosis and treatment. The aim is to draw the attention of the clinicians to the presence of the TARTs and to evaluate critically every patient with testicular tumours concomitantly with CAH. It’s very important to consider treatment of CAH to prevent short stature in future.