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Research Article: Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia: Study of a Cohort of Patients from a Single Italian Center

Date Published: 2023-08-26

Abstract:
Testicular adrenal rest tumors (TARTs) are a common complication in male patients with congenital adrenal hyperplasia (CAH). The aim of our cross-sectional cohort study is to estimate the frequency of TARTs with the correlation of genotype and disease control on tumor development. Thirty-five male patients, aged 14–26 years, were included in the study, all followed by the same center of pediatric endocrinology in Bologna. We studied genotypes, hormonal profiles at different time intervals and testicular ultrasound. A logistic regression model with multivariant analysis was developed for the statistical analysis. TARTs were detected in 31.4% of the cases, 90.9% of them had a classic form with salt wasting, while 9.1% had a non-classic form. Additionally, a significant correlation between the incidence of TARTs and severity of genotype was detected. Patients with TARTs had markedly worse metabolic control on average (p = 0.027), reflected by high ACTH, 17OH progesterone, and overall delta4-androstenedione. In conclusion, a screening tool is mandatory, especially (but not exclusively) in patients with the most severe forms of CAH and poor endocrine control of the disease.

Introduction:
Congenital adrenal hyperplasias (CAHs) are a group of autosomal recessive disorders of steroid synthesis that mainly involves adrenals. The most common form of CAH, responsible for about 95% of cases, is 21-hydroxylase deficiency (21-OHD) due to variations of CYP21A2 [1]. According to the severity of 21-OH activity, three clinical forms are described: salt-wasting (<1% enzyme activity); simple virilizing (1–2%), which both are referred to as classic CAH; and non-classic (20–50%). The production of gluco- and…

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