No abstract

Testicular adrenal rest tumours (TART) are one of the most important causes of infertility in adult male patients with congenital adrenal hyperplasia (CAH). These benign tumours are already detected in children, but screening of TART is not routinely performed. Objective: To define retrospectively the prevalence of TART in 41 paediatric male CAH patients aged 0-19 years regularly followed by high-frequency (F_central 12-MHz) ultrasound techniques. Results: Above the age of 10 years, there was a clear increase in the prevalence of TART: 10-12 years, 28% (2 of 7 patients), 13-14 years, 50% (4/8), and 15-16 years, 75% (3/4). Above the age of 16 years, TART were detected in 100% of the patients (7/7). The tumours were not detectable by palpation. Conclusion: TART is already present in childhood with an increasing prevalence after onset of puberty. We recommend regular ultrasound from the onset of puberty in all boys with classic CAH.

The majority of the babygrams/FPSS has no contribution to the diagnostic process. Multiple skeletal malformations on prenatal ultrasound or post-mortem external inspection are indicative for a diagnostic FPSS, and this should be the main selection criterion.

The existing guidelines regarding the management of invasive pulmonary aspergillosis do not recommend screening of the extra-pulmonary sites. Due to the fact that the presence of central nervous system (CNS) aspergillosis will influence treatment decisions regarding which antifungal to use and the aimed target concentrations of azoles in plasma, to be informed about dissemination of the infection to the CNS is absolutely necessary. We demonstrate the need for a structured approach to screening of pediatric patients for CNS aspergillosis.

We report bilateral testicular tumors occurring in a patient with recurrent Cushing disease 12 years after bilateral adrenalectomy. Using mRNA expression analysis and steroid metabolome profiling, the tumors demonstrated both adrenocortical and gonadal steroidogenic properties, similar to testicular adrenal rest tumors found in patients with congenital adrenal hyperplasia, suggesting the presence of pluripotent cells even in patients without congenital adrenal hyperplasia.