RESUMO
OBJECTIVE: Ovarian neoplasms in children are rare. The objective of this report is to emphasize the importance of considering those neoplasms in the differential diagnosis of hyperandrogenism even with negative diagnostic imaging. METHODS: We report the case of a 12-year-old girl who presented with virilization and elevated 17 hydroxyprogesterone (17-OHP) and who was subsequently diagnosed with an ovarian neoplasm. RESULTS: The patient was initially seen for hirsutism and deepening of the voice. Elevated 17-OHP, androstenedione, and testosterone prompted the initial diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, but those levels failed to suppress on corticosteroid therapy. Ultrasound, computed tomography scan, and magnetic resonance imaging of the abdomen and pelvis were normal. Genetic testing for congenital adrenal hyperplasia was negative. Bilateral selective adrenal and ovarian venous sampling confirmed the ovarian origin of her hyperandrogenism. A unilateral salpingo-oophorectomy revealed a steroid cell tumor. Postoperatively there was normalization of testosterone and 17-OHP. CONCLUSION: This report highlights the utility of selective adrenal and ovarian sampling when suspecting a primary androgen-secreting neoplasm, even in the setting of elevated 17-OHP levels and negative imaging studies, as early diagnosis can prevent manifestation of irreversible symptoms of virilization.
RESUMO
Arginine vasopressin (AVP)-mediated osmoregulatory disorders, such as diabetes insipidus (DI) and syndrome of inappropriate secretion of antidiuretic hormone (SIADH) are common in the differential diagnosis for children with hypo- and hypernatremia and require timely recognition and treatment. DI is caused by a failure to concentrate urine secondary to impaired production of or response to AVP, resulting in hypernatremia. Newer methods of diagnosing DI include measuring copeptin levels; copeptin is AVP's chaperone protein and serves as a surrogate biomarker of AVP secretion. Intraoperative copeptin levels may also help predict the risk for developing DI after neurosurgical procedures. Copeptin levels hold diagnostic promise in other pediatric conditions, too. Recently, expanded genotype and phenotype correlations in inherited DI disorders have been described and may better predict the clinical course in affected children and infants. Similarly, newer formulations of synthetic AVP may improve pediatric DI treatment. In contrast to DI, SIADH, characterized by inappropriate AVP secretion, commonly leads to severe hyponatremia. Contemporary methods aid clinicians in distinguishing SIADH from other hyponatremic conditions, particularly cerebral salt wasting. Further research on the efficacy of therapies for pediatric SIADH is needed, although some adult treatments hold promise for pediatrics. Lastly, expansion of home point-of-care sodium testing may transform management of SIADH and DI in children. In this article, we review recent developments in the understanding of pathophysiology, diagnostic workup, and treatment of better outcomes and quality of life for children with these challenging disorders.
