Peer-reviewed article
Prepubertal Screening for Testicular Adrenal Rest Tumors in Boys with Classic Congenital Adrenal Hyperplasia: Emerging Evidence and Practical Implications.
Ranieri A, Ferrari V, Ortolano R, Candela E, Bernardini L et al. ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This is a medical review article about testicular adrenal rest tumors (TARTs), a complication affecting boys with congenital adrenal hyperplasia. The article discusses how and when to screen for these benign tumors that can affect fertility in affected males. It examines current diagnostic approaches and proposes earlier screening for high-risk patients. The focus is primarily on clinical diagnosis and monitoring rather than child well-being outcomes.
Key points
- TARTs occur in approximately 25% of children and 46% of adults with classic congenital adrenal hyperplasia
- These masses can compress seminiferous tubules, leading to permanent gonadal injury and infertility
- Sustained ACTH excess and inadequate disease control are major predisposing factors
- Scrotal ultrasonography is the first-line diagnostic technique
- Earlier screening in childhood for highest-risk patients may help preserve fertility
Limitations
This review focuses on diagnostic and clinical management strategies rather than evaluating interventions or their effectiveness. It does not assess child well-being outcomes or provide evidence on the impact of screening on actual fertility preservation or quality of life.
Abstract
Testicular adrenal rest tumors (TARTs) are a frequent and clinically relevant complication of congenital adrenal hyperplasia (CAH), particularly its classic forms due to 21-hydroxylase deficiency. Although histologically benign, these masses develop within the rete testis and can progressively compress the seminiferous tubules, leading to fibrosis and, when longstanding, permanent gonadal injury and obstructive azoospermia; they are the foremost cause of impaired fertility in men with classic CAH. Their frequency increases with age, from approximately 25% in childhood to 46% in adulthood. This narrative review summarizes current evidence on the pathogenesis, predisposing factors and diagnostic work-up of TARTs, focusing on two practical questions: the appropriate age to begin monitoring and the imaging tools best suited to it. Sustained ACTH excess is regarded as the dominant growth-promoting signal, while the salt-wasting phenotype, severe CYP21A2 variants and inadequate disease control emerge as the principal predisposing factors. Although current guidelines advise ultrasound monitoring from adolescence, a growing body of pediatric data shows that TARTs can be detected well before puberty in patients at greatest risk. Scrotal ultrasonography remains the first-line technique, complemented by CEUS, elastography and MRI in selected cases. We outline a pragmatic, risk-adapted monitoring scheme and argue that earlier, childhood assessment in the highest-risk patients may help to safeguard future fertility, an approach that still awaits prospective confirmation.