Prevalence of ovarian adrenal rest tumours and polycystic ovaries in females with congenital adrenal hyperplasia: results of ultrasonography and MR imaging.

The aim of the investigation was to assess the prevalence of ovarian adrenal rest tumours and polycystic ovaries in female patients with congenital adrenal hyperplasia (CAH). Thirteen female CAH patients (median age 19.8 years, range 14.8-23.5 years) underwent transvaginal (n=6) or transabdominal (n=7) ultrasonography by a gynaecologist and MR imaging (n=13) of the ovaries (pre and post contrast-enhanced T1- and T2-weighted images). Ovarian adrenal rest tumours were defined as small hypoechoic and multifocal nodules on ultrasound and isointense lesions on T1- and hypointense on T2-weighted MR images (derived from characteristics of testicular adrenal rest tumours). Polycystic ovaries were defined as the presence of > or = 10 follicles arranged peripherally around or scattered throughout increased stroma. No ovarian adrenal rest tumours were found either on ultrasound, or by MR imaging. Polycystic ovaries were found in 2 of the 13 patients (15.4%), both with ultrasound and MR. No ovarian adrenal rest tumours were detected in these female CAH patients, which suggests that ovarian adrenal rest tumours in CAH females are rare. The prevalence of polycystic ovaries corresponded to that in the general population. From these results, we would suggest that routine ovarian imaging in CAH females is not indicated. However, when ovarian dysfunction is present, ovarian imaging is advised, first by ultrasonography, to detect ovarian adrenal rest tumours or polycystic ovaries.

Asymptomatic testicular adrenal rest tumours in adolescent and adult males with congenital adrenal hyperplasia: basal and follow-up investigation after 2.6 years.

AIM: To study the course of asymptomatic testicular adrenal rest tumours in patients with congenital adrenal hyperplasia (CAH) and the association between tumour changes and glucocorticoid therapy adjustments. PATIENTS AND METHODS: Fifteen male patients with CAH (21-hydroxylase deficiency), in whom asymptomatic testicular adrenal rest tumours had been found at a baseline investigation, underwent scrotal ultrasonography and venous blood sampling (for LH, FSH and testosterone) on average 2.6 years later. The level of hormonal control was assessed by measurement of androstenedione in three diurnal saliva samples. Data on changes in glucocorticoid therapy since baseline were obtained from the patients' records. RESULTS: Tumour decrease, defined as > or =30% decrease in the sum of the longest diameter(s) of the lesion(s), was found in six patients; tumour increase, defined as > or =20% increase, in six and stable tumours in three patients. All three patients with overtreatment showed tumour decrease and of the six patients with undertreatment only one showed tumour decrease. Tumour increase was not only observed in undertreated patients but also in patients with adequate treatment. Changing the night dose of hydrocortisone into dexamethasone, to obtain prolonged ACTH suppression, had resulted in better adrenal suppression in only one patient. CONCLUSIONS: Tumour decrease could be achieved by aiming at adrenal oversuppression, but the required high glucocorticoid doses may induce side effects. In asymptomatic tumours in young male patients with CAH, a practical guideline could be to optimise adrenal suppression to a maximal tolerable glucocorticoid dose and to offer analysis and cryopreservation of semen as soon as the patient can be motivated.

Testicular adrenal rest tumours in postpubertal males with congenital adrenal hyperplasia: sonographic and MR features.

The purpose of this study was to investigate the prevalence of testicular adrenal rest tumours in patients with congenital adrenal hyperplasia (CAH), and to describe sonographic and MR features of these lesions. Seventeen postpubertal male CAH patients underwent scrotal sonography, with colour Doppler, and in 16 of them pre- and postcontrast enhanced T1- and T2-weighted MR images of the testes were obtained. Ultrasound revealed lesions in 16 of 17 patients (94%), bilateral in 10 patients and unilateral in 6 patients. The lesions were typically located adjacent to the mediastinum testis. The maximal diameter of the lesions varied from 2 to 40 mm. Margins were blurred in 11 of 31 lesions. Seventeen of the 20 lesions smaller than 2 cm in diameter were hypoechoic, whereas all 11 lesions larger than 2 cm showed hyperechoic reflections. On MR all lesions were isointense on T1- and hypointense on T2-weighted images and lesion margins were clearly defined. Enhancement of the lesions after intravenous contrast was seen in 13 of 15 patients. In our series the prevalence of testicular adrenal rest tumours in postpubertal CAH patients is much higher than in other reported studies. The lesions may develop from some small, hypoechoic, and multifocal nodules and coalesce to large hypoechoic lesions with hyperechoic reflections on ultrasound. As our results suggest that ultrasonography and MR show the lesions equally well, ultrasonography should be the method of first choice for detection and follow-up of these lesions, because it is the cheapest and quickest imaging technique. In case of a partial orchiectomy, MR is recommended because it shows lesion margins optimally.