Background: Boys with 21-hydroxylase deficiency (21-OHD) develop testicular adrenal rest tumors (TARTs) at a high percentage. TARTs may lead to testicular structure damage and infertility. Treatment consists of increasing the glucocorticoid dose to suppress ACTH or surgery when necessary.
Objective and hypotheses: We present an adolescent with TART who was treated by testicular sparing surgery at the age of 11.
Method: A 13 -year-old boy with 21-OHD was admitted to our hospital for follow-up. He had been on hydrocortisone treatment since he was 3-years-old but his compliance to treatment was very poor. He had been operated for bilateral nodulary TARTs at the age of 11. The patient was dark skinned, with hyperpigmentation in the external genitalia. He had a testicle volume of 8 ml on each side. Laboratory examinations showed obviously increased levels of ACTH and 17-OH progesterone. Steroid dose was increased and he was advised to continue on treatment.
Results: At the age of 15, scrotal examination and ultrasonography revealed a testicular volume appropriate for his age.
Conclusion: Clinical examination and testicular ultrasonography should be performed in patients with 21-OHD, especially in puberty, regularly. Prompt evaluation and treatment of TARTs is mandatory. Testis sparing surgery is the choice of treatment for patients non-compliant to treatment since it may provide an appropriate testicular tissue size and prevent infertility in adulthood.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology