The adrenal enzyme deficiency leads pseudopuberty in later diagnosis or in the absence of treatment. The existence of testicular enlargement in boys can be related to adrenal inclusion. We report six observations about this pathology: Two brothers of 2 and 12 years old with 11β-hydroxylase and four patients of three, five, height and ten years old with 21-hydroxylase deficiency. The reson of consultation was the development of the penis and pubic hair with a testiculary enlargment.Hormonal balance was in favor of early pseudopuberty (FSH average, 0.15 μ/l; LH average, 0.02 μ/l; and testosterone average, 8 ng/ml). Testicular ultrasonography objectified increased volume and testicular hypoechogenes nodules. Tumor markers (βHCG and ACE) were negative. Replacement and suppressive therapy by glucocorticoids is indertaken. The evolution was marqed by regression of secondary sexual characteristics, reducted testicular size, increasing its echogenecity and loss of nodules. During a reevaluation ten years later, a large heterogeneous testicular nodule is found in the the fourth boy. Tumor maekers were elevated. Orchidopexy is decided.
The intratesticular adrenal inclusion is rare. It is the result of a cortical defect with a delay in diagnosis. Reduction of testicular volume after glucocorticoid therapy is a good predictor of disease control. However, a long term of follow up is necessary because a possibility of tumor degeneration is not exceptional.
27 Apr - 01 May 2013
European Society of Endocrinology