Screening for Tumors in Boys with Congenital Adrenal Hyperplasia

Ultrasonography imaging equipmentAdolescent males with congenital adrenal hyperplasia (CAH) should be tested for testicular adrenal rest tumors (TARTs) every 1 to 2 years, according to a study.

A team of researchers at Yıldırım Beyazıt University’s School of Medicine and the Dr. Sami Ulus Research and Training Hospital of Women’s and Children’s Health Diseases in Ankara, Turkey, explored the prevalence of these tumors in children with CAH and the long-term outcomes of various treatments. Their study, “Prevalence and long-term follow-up outcomes of testicular adrenal rest tumors in children and adolescent males with congenital adrenal hyperplasia,” was published online ahead of print in October 2012 in Clinical Endocrinology.

The study included data on 60 boys and adolescent males with CAH. The participants ranged in age from 2 to 18 years. Of those included, 55 patients had 21-hydroxylase deficiency (21-OHD), and 5 had 11-β hydroxylase deficiency (11β-OHD). The participants were screened for the tumors using scrotal ultrasonography.

The results of the study showed that 18.3% of patients had TARTs. The youngest patient to have a tumor was 4 years old. Of the 60 patients included in the study, only 2 had good metabolic control. Eight of the patients had stage 2 tumors, 1 had stage 4, and 2 had stage 5 tumors. Half of those with stage 2 TARTs found that their tumors were eliminated with high-dose steroid treatment (with no recurrence). One of the stage 5 tumor patients received testis-sparing surgery for his condition. Additionally, 2 patients eventually became fathers and had healthy male children.

The researchers argue that early detection of TARTs in young boys and adolescents with CAH is important for successful treatment of the tumors. They also argue that early treatment may help prevent infertility in adulthood. Because of this, the study authors recommend scrotal ultrasonography for children with CAH every 1 to 2 years, beginning in early childhood.

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