Lost adrenal tissue found in the testicles Doctoral research on adrenogenital syndrome provides insights for better treatment

Many men suffering from adrenogenital syndrome develop benign tumors in the testicles that can cause infertility. Mariska Schröder's doctoral research at Radboud university medical center reveals that these patients' tumors exhibit characteristics of both adrenal and testicular tissue. Her studies also reveal that early diagnosis and treatment of the disease may reduce the risk of these tumors.

In the Netherlands, ten to fifteen children are born with adrenogenital syndrome each year. These patients' adrenal glands produce insufficient or no stress hormones, requiring lifelong hormone supplementation. Additionally, a significant number of boys with this condition develop testicular tumors. While benign, these tumors can compress the spermatic ducts, leading to infertility. Due to the rarity of the disease, little is known about it, but Mariska Schröder's research changes this. She investigated tumor characteristics and explored improved treatment options.

New cell type

Schröder's laboratory research on tumor tissue from adrenogenital syndrome patients indicates that these tumors closely resemble adrenal tissue. However, they also exhibit properties of testicular tissue. ‘We discovered a new cell type in these tumors, with characteristics of both tissues’, explains Schröder. ‘This provides potential targets for future treatments.’

She also explored whether tumor development could be prevented through rapid diagnosis and treatment of adrenogenital syndrome. Collecting data from seventeen countries worldwide, she demonstrates that the risk of testicular tumors is much lower with early diagnosis. The risk is approximately two and a half times lower when the diagnosis is made within a month of birth compared to waiting more than a year.

Optimal treatment regimen

Finally, Schröder conducted a study on the best treatment regimen for adrenogenital syndrome patients. Patients received a high dose of stress hormone either in the morning or evening, along with a lower dose twice daily. The first regimen closely mimics the natural situation, as in healthy individuals, the blood level of stress hormone is highest in the morning. The high evening dose aims to maintain a sufficiently high blood level at the end of the night.

The study reveals that, on average, both regimens have similar effects on the production of other important hormones and sleep quality. ‘However, we do see differences in hormone levels at the individual patient level’, says Hedi Claahsen, Professor of Sex and Gender Studies and one of the research leaders. ‘That is why we tailor treatment to each patient, providing optimal personalized care.’

More information about this PhD thesis defense

PhD thesis defense of Mariska Schröder on February 21st at 12.30 p.m. Title of dissertation: On the characteristics, etiology, and prevention of Testicular Adrenal Rest Tumors (available online after 21 February). (Co-)supervisors: prof. dr. F.C.G.J. Sweep, Prof. dr. H.L. Claahsen-van der Grinten, and Dr. P.N. Span. The defense can be followed via this livestream.

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