Ectopic Adrenal Rests in Congenital Adrenal Hyperplasia as a Cause of Androgen Excess after Adrenalectomy Detected by Pelvic Venous Sampling

Abstract

Background: Patients with classic congenital adrenal hyperplasia (CAH) due to CYP21 deficiency are treated with supraphysiological doses of glucocorticoids to suppress elevated androgen production. This implies also side effects of high-dose glucocorticoids, possibly leading to iatrogenic Cushing's syndrome. Bilateral adrenalectomy has been suggested as the ultimate therapy in severe cases, when insufficient androgen suppression was obtained despite high glucocorticoid doses. Usually, ACTH levels rise after bilateral adrenalectomy, and this could imply an increased risk for the development of ectopic adrenal rests. In female CAH patients ovarian adrenal rests are not commonly detected by conventional radiological techniques. Methods: We report the case of an adult female CAH patient who underwent bilateral adrenalectomy in early puberty because of poorly controlled CAH. Results and Conclusions: Several years after surgery, she developed secondary amenorrhea and hair loss as a result of androgen overproduction in ovarian adrenal rests that appeared to be detectable only by pelvic venous sampling. After unilateral oophorectomy androgen levels normalized.

Novel treatments for congenital adrenal hyperplasia

“…Second, the complete lack of cortisol leads to increased ACTH levels with consequently a higher risk to develop Nelson's disease, a well-known complication in ACTH-dependent Cushing disease. Finally, due to the chronically exposure of high levels of ACTH, adrenal rests may develop in the testes of male patients (TART) or in female patients [80,81]. Therefore, bilateral adrenalectomy is generally not recommended [2].…”

MANAGEMENT OF ENDOCRINE DISEASE: Gonadal dysfunction in congenital adrenal hyperplasia

“…2). So far only a few case reports have been published (79,80,81,82,83). The low prevalence may be explained by the difficulty to detect these tumours by ultrasound due to the abdominal location of the ovaries in contrast to the scrotal position of the testes.…”

“…In addition, 131I-noriodocholesterol imaging might help to identify occult OART (85). Selective venous sampling and complete pelvic venous sampling to localise virilising ovarian tumours has also been described (81). When routine imaging techniques fail to detect these lesions, pelvic venous sampling might effectively localise the tumours.…”

“…This may be especially important when females with CAH suffer from an unexplained increase of adrenal C-19 steroids. One case report describes a young adult female with CAH who underwent bilateral adrenalectomy because of poorly controlled CAH (81). Several years after successful surgery, she developed secondary amenorrhea and hair loss.…”