Boys With Congenital Adrenal Hyperplasia Miss Out on Valuable Screening

New research suggests fertility discussions and updated screening methods for male patients who have CAH are long overdue.

Columbus, OH — March 2018

As many as 94 percent of males with congenital adrenal hyperplasia (CAH) eventually develop testicular adrenal rest tumors (TARTs), which can cause structural damage to the testicles and can block sperm or reduce sperm count. Despite the fact that these tumors are a leading cause of infertility in these patients, there are no formal guidelines for pediatric endocrinologists about the recent improvements in TART screening techniques and fertility counseling in males with CAH.

“Evidence increasingly shows that palpation — the way endocrinologists were trained to screen for TARTs — is not sensitive enough, and that ultrasounds should be used to do a formal check,” says Monika Chaudhari, MD, member of the Section of Endocrinology at Nationwide Children’s Hospital and lead author on the research study, published recently in the Journal of Pediatric Urology. “We need to start talking about future fertility with patients and thinking about how to incorporate ultrasound screenings and fertility assessments into our management of these boys.”

That’s why Dr. Chaudhari retrospectively examined the medical records of 46 male patients with CAH in search of ultrasound screening, TART diagnosis and fertility discussions. The patients ranged from ages 2 to 42. What she uncovered was unfortunate but perhaps not surprising: only 13 percent of patient charts included any mention of fertility, 15 percent indicated a screening ultrasound and none of the patients had received fertility testing or an offer for fertility preservation. Of the seven patients who had received an ultrasound screening, three had TARTs and only one patient was seen by a pediatric urologist.

“As pediatric endocrinologists, we don’t always think about the fact that males with CAH often have problems with fertility when they’re older, but we need to start keeping that in mind,” says Dr. Chaudhari, who is also a clinical associate professor of Pediatrics at The Ohio State University College of Medicine.

She and her collaborators at Nationwide Children’s, including Leena Nahata, MD, senior author on the study and the medical director of the hospital’s Fertility and Reproductive Health Program, believe that this lack of physician consideration of fertility and TART screening may stem in part from the absence of specific guidelines on this aspect of management from organizations such as the Endocrine Society and the Pediatric Endocrine Society.

Published research suggests TARTs can be present in patients as young as 4 years old, and that they increase in prevalence and size with age and poor metabolic control. When assessed via palpation, the tumors may not be obvious until they are 2 centimeters or more in diameter; with ultrasound screening, tumors as small as a few millimeters in diameter can be detected.

Dr. Chaudhari recommends a conservative approach to incorporating this more accurate screening method into clinical practice, suggesting that a screening ultrasound should be conducted early in puberty, with follow-up every few years based on the patient’s screening findings, identified fertility concerns and medication adherence. Indeed, clinical practice at Nationwide Children’s has already changed in light of the latest research and Dr. Chaudhari’s findings.

“Everyone in our Endocrinology group now orders ultrasounds around the onset of puberty, and we are all definitely talking about fertility,” says Dr. Chaudhari. “It’s too soon to say whether we’re picking anything up yet, but we’re counseling patients and their families about the importance of compliance, monitoring for TARTs and future fertility risks.”

Although Dr. Chaudhari says the Endocrinology team isn’t routinely collecting sperm samples or referring to pediatric urologists or the fertility clinic for a more in-depth assessment, she believes these steps may make sense for future approaches to patient fertility education, screening and long-term management.

“This research opened our eyes about the prevalence of TARTs, their impact on fertility and the lack of attention to this,” Dr. Chaudhari says. “In the past, we wouldn’t think of doing ultrasounds unless we felt something on a physical exam, and since there are no guidelines to do ultrasounds more proactively, it’s not standard of care yet. We’re proposing that maybe it should be.”

Until then, Dr. Chaudhari and her colleagues are busy spreading the word and plan to reexamine patient charts to discern whether the new approach results in increased discovery of TARTs and improved fertility outcomes. In the meantime, she expects pediatric urologists, at least at Nationwide Children’s, to start receiving a few additional referrals.

“I expect management of male CAH patients to start being more multidisciplinary as we begin to acknowledge and act on the importance of screening for TARTs and assessing fertility,” Dr. Chaudhari says. “We have learned a lot from cancer patients when it comes to the importance of discussing and preserving future fertility, and it’s time we start transferring that knowledge and consideration to other patient groups.”

Reference:

Chaudhari M, Johnson EK, DaJusta D, Nahata L. “Testicular adrenal rest tumor screening and fertility counseling among males with congenital adrenal hyperplasia.” Journal of Pediatric Urology. 2017 Dec 21. Epub ahead of print.