Endocrine Abstracts (2009) 20 P4

Correlation between development of testicular adrenal rest tumors and genotype in children, adolescents and adult males with congenital adrenal hyperplasia

Annette Mouritsen1, Niels Jørgensen1, Katharina M Main1, Marianne Schwartz2 & Anders Juul1


1University Department of Growth and Reproduction, Copenhagen, Denmark; 2Department of Clinical Genetics, Copenhagen, Denmark.


Background: Previous studies have demonstrated a high overall prevalence of testicular adrenal rest tumors (TART) in adults with congenital adrenal hyperplasia (CAH), whereas little is known about the prevalence in children. The aim of this study was to determine the presence of TART according to age and genotype.

Design: Retrospective study, tertiary University centre.

Patients and methods: In 47 male patients (age 2.6–40.3 years) with CAH due to 21-hydroxylase deficiency a testicular ultrasound was performed to evaluate the presence of TART and CYP21A1P genotypes were identified and divided in four groups according to the severity of the mutation (predicted activity of the 21-hydroxylase); null, A, B and C.

Results: TART were detected in 26 patients (overall prevalence of 55%). For the 23 patients younger than 18 years TART were present in 11 (48%). The youngest patient having TART was 7.5 years old. The presence of TART was highly dependent of the specific CYP21A1P genotype: 26 of 35 patients (74%) with the most severe mutations (group null and A) had TART whereas none of 12 patients with the milder mutations (group B and C) had TART.

Conclusion: TART are frequently present in patients with severe CYP21A1P mutations in contrast to those having milder mutations. They may present in early childhood suggesting that testicular ultrasound should be included in the clinical follow-up of CAH children, especially those with severe CYP21A1P mutations.

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