Testicular adrenal rest tumors often present at young age in boys with classic congenital adrenal hyperplasia

Ashwini Mallappa

CHICAGO — Testicular adrenal rest tumors are commonly found in boys with classic congenital adrenal hyperplasia, and the diagnosis is often made before adulthood, according to a speaker here.

“Testicular adrenal rest tumor (TART), the most common cause of male infertility in patients with congenital adrenal hyperplasia (CAH), is commonly first detected in prepubertal males with classic CAH, at younger ages than previously thought,” Ashwini Mallappa, MD, FAAP, a staff clinician for pediatric services at the National Institutes of Health Clinical Center, told Endocrine Today. “In our longitudinal natural history study at the NIH Clinical Center, we found that eight of 37 (22%) males had TART onset before age 10 [years]. Despite attempts at optimizing clinical management, the majority of CAH patients with TART showed disease progression over time, underscoring the need for frequent monitoring and patient counseling.”

Mallappa and colleagues evaluated 37 males with CAH to determine the age of onset and characteristics of TART throughout childhood and into adulthood. Participants underwent serial scrotal ultrasounds once every 6 months from childhood to adolescence and once every few years in adulthood (mean age at first scan, 5.4 years). Follow-up was a mean of 15.1 years.

Overall, 69% of participants developed TARTs with mean age of onset of 13 years. Through follow-up, among those who developed TARTs, eight had bilateral disease at onset, and 10 progressed to have bilateral masses. TART increased in most participants (61.5%), but resolved in 7.7%, decreased in 3.8% and remained stable in 15.4%.

“Current Endocrine Society clinical guidelines suggest periodic screening for TART beginning from adolescence,” Mallappa said. “However, findings from our longitudinal study show that these tumors are seen in young children, and frequently, disease burden increases over time. Early identification along with intensification of CAH therapy is important (and necessary on a case-by-case basis) to prevent adverse outcomes, including hypogonadism and infertility in adulthood.”

“We need to understand the factors which predispose males to develop TART and identify better ways to prevent and treat TART,” she said.

Further analysis is underway to evaluate factors including longitudinal hormonal control and glucocorticoid management on TART development and progression, according to Mallappa. – by Amber Cox

Reference:

Mallappa A, et al. OR02-6. Presented at: The Endocrine Society Annual Meeting; March 17-20, 2018; Chicago.

Disclosures: The authors report no relevant financial disclosures.