TART screening, fertility counselling underused in congenital adrenal hyperplasia

10 Jan 2018

Testicular adrenal rest tumour (TART) screening and fertility counselling appear to be underutilized in boys with congenital adrenal hyperplasia (CAH), according to a study.

Researchers retrospectively examined 46 paediatric patients with CAH, obtaining data on age and indication for diagnosis, age at first and last documented paediatric endocrinology and urology visit, history of ultrasound examinations, and documentation of fertility counselling.

Of the patients, 38 had 21-hydroxylase deficiency. Patients had a median age of 2 weeks (range, 7 days–10 years) at CAH diagnosis and median age of 14 years (range, 2–42 years) at the most recent paediatric endocrinology clinic visit.

At the time of the study, 29 patients ( 63 percent) were >11 years of age, including 14 who were aged >18 years. There were seven patients (15 percent) who underwent a screening ultrasound at some point in their care (among whom three had TARTs), while six (13 percent) had any mention of fertility in their records.

It was also found that none of the patients underwent biochemical testing or semen analysis to evaluate gonadal function. Likewise, none were offered fertility preservation. There was only one patient who was seen by a paediatric urologist.

Based on the present data, researchers pointed out a need for increased awareness and development of practice guidelines within paediatric urology and endocrinology to address the apparent underutilization of TART screening and fertility counselling in paediatric CAH patients.

“In addition to a screening ultrasound in puberty and consideration of semen analysis after puberty … boys [with CAH] may benefit from seeing a paediatric urologist independently or in an interdisciplinary programme. [The] boys … [along with] their families should be educated about infertility risk and potential interventions, with the goal of improving reproductive outcomes in this population,” researchers said.