ESPE Abstracts (2015) 84 P-2-186

Testicular Adrenal Cell Rest Tumours are not Associated with 21 Hydroxylase Mutations or Therapy Compliance in Boys with Classic form of CAH

Mirjana Kocovaa, Vesna Janevskab, Violeta Anastasovskaa & Elena Sukarova-Angelovskaa

aUniversity Pediatric Clinic, Skopje, Macedonia; bInstitute of Pathology, Medical Faculty, Skopje, Macedonia

Background: Testicular adrenal cell rest tumours (TART) are common in adult males treated for congenital adrenal hyperplasia (CAH) and contribute to reduced fertility. Their prevalence varies between 6-50%, and the incidence raises during adolescence.

Aim: To explore the appearance of TART in a group of 25 male children in the age group 3-18 years who were treated for CAH.

Methods: Compliance to the treatment was assessed through 17OHP values at 4 months intervals. Gene analysis for the CYP21A2 gene was performed using amplification creation restriction site (ACRS) method. Ultrasound examination was performed at yearly intervals. If positive for TART, it was followed by the MRI. Two boys underwent biopsy of the testes.

Results: TART was detected by ultrasonography in 6 children (24%) at the age 6-16 years (14.2 years average). Four had a classical salt wasting form, two had simple virilising form of CAH. Molecular analysis confirmed homozygous I2S mutation in 3 patients, Q318X in one, and late onset form homozygous mutations P30L in one, and I172 in one. Ultrasonography confirmed tumours 8–25 mm in diameter and consecutively decreased normal testicular tissue. MRI confirmed TART, and clarified the exact distribution of the tumours. Histology was diagnostic of TART in two patients. Three of the patients had non-compliance, however in remaining 3, 17 OHP was always within the normal range. Surprisingly, one of the boys with TART developed mixed phenotypic leukaemia at the age of 16 years.

Conclusion: TART is not rare in boys with salt wasting or simple virilising form of CAH. It is not associated with the genotype or the therapeutic compliance. Therefore, it might be advisable to perform systematic testicular ultrasonography since childhood at yearly intervals in all boys with classical form of CAH. Search for better treatments that will improve fertility in these patients is warranted.

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