ACTA ENDOCRINOLOGICA (BUC)

Background. Composite adrenal pheochromocytoma-ganglioneuromas (PHEO-GNs) are well-defined neoplasms of the adrenal medulla, consisting of both endocrine and neural components. They are extremely rare. To date, only 46 cases have been reported in the English literature. Case report. We describe an adult case of endocrinologically active adrenal composite PHEO-GN diagnosed in a 62-year-old male patient with history of dizziness, headache, nausea, vomiting, and uncontrolled hypertension including intermittant hypertension attacks. On physical examination, he had a blood pressure (BP) of 170/110 mmHg. 18-fluorodeoxyglucose positron emission tomography-computed tomography showed a right adrenal tumor with increased metabolic activity. Urinary levels of catecholamines and their metabolites were prominently elevated. Right adrenalectomy was performed for treatment purposes. The histological diagnosis of the resected tumor was composite adrenal PHEO-GN. Conclusions. Composite adrenal PHEO-GN is a rare entity and preoperative diagnosis is difficult. Its hormonal activity and imaging characteristics are frequently very similar to those of other adrenal tumors, especially pure PHEO and adrenal carcinoma. Therefore, careful evaluation by endocrine tests and multiple imaging procedures are needed for providing a differential diagnosis. However, definitive diagnosis composite adrenal PHEO-GN is established by histological and immunochemical studies. To our knowledge, the present case is the first report that describes composite adrenal PHEO-GN in a patient from Turkey. We discuss this case and review the literature on this unusual entity.

Background. Warthin-like papillary thyroid carcinoma (WLPTC) is an uncommon variant of thyroid papillary carcinoma. To date, only 104 cases have been reported in the English literature. Case report. We present a case of WLPTC in a 72-year-old female and we review of the literature on the topic. Clinical evaluation revealed nontoxic multinodular goiter. A total thyroidectomy was performed and pathology examination showed WLPTC, a relatively rare variant of PTC occurring predominantly in older women. It is important to differentiate it from other variants of PTC, particularly from Hürthle cell carcinoma and tall cell carcinoma because the latter two carry a worse prognosis. Conclusion. Treatment, clinical course and prognosis of WLPTC is similar to that of classical PTC.

Background. Adrenocortical oncocytoma (ACO) is exceedingly rare. To date, only 81 cases are reported in the English literature. Most of ACOs are nonfunctioning and benign.\r\nCase report. We describe a case of ACO incidentally diagnosed in a 54-yearold male patient. Physical examination, routine laboratory studies and hormonal tests were within normal ranges. Abdominal computed tomography (CT) and magnetic resonance imaging showed a large and\r\nheterogeneous tumor (9x7x6 cm) in the left adrenal gland with borderline malignant characteristics. Left adrenalectomy was performed for treatment purposes. The cut\r\nsurface of the resected tumor was heterogeneous with tan brown color with areas of extensive hemorrhage and necrosis.\r\nMicroscopically, the tumor consisted predominantly of large polygonal cells containing eosinophilic granular cytoplasm\r\narranged in a solid pattern with abundant hemorrhage and necrosis. The tumor showed a compressed remnant of adrenal\r\ncortex in the outer the capsule of the mass. No vascular and capsular invasion was noted, and mitotic figures were not\r\nconspicuous. Immunohistochemically, the tumor cells were diffusely and strongly positive for melan-A, vimentin, alphainhibin, weakly positive for synaptophysin and calretinin. The tumor was focal and erratively positive for pancytokeratin. No immunoreactivity was observed form\r\nchromogranin-A, CD10 or p53. The histological diagnosis was ACO with uncertain malignant potential.\r\nConclusions. ACO occurs rarely in adults and preoperative diagnosis is difficult, especially in asymptomatic cases.\r\nIt needs careful evaluation and surgical treatment. According to our knowledge, this is the 2th case of ACO in an adult patient from Turkey in English literature. We\r\ndiscuss this case and review the literature on this unusual entity.

We describe a Turkish woman with the association of classical cutaneous features of EDS, extensive cerebral calcification and multiple emphysematous bullae. A 20-year-old woman with a 8-year history of EDS with mild chronic lung disease presented with headache. Physical examination revealed fragility and hyperelasticity of the skin and hypermobility of the joints. A chest computed tomography (CT) showed bilateral paraseptal emphysematous areas and bilateral bullous disease. A cranial CT revealed bilateral extensive calcifications in the cerebral and cerebellar hemispheres and basal ganglia with periventricular and subcortical white matter. Cerebral calcification should be carefully searched for using MRI in patients with EDS and neurological symptoms, such as headache.

Background. HDR syndrome is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia caused by mutation of the GATA3 gene. Case report. We describe a case of HDR syndrome diagnosed in a 46-yearold male patient. He had hand numbness, intermittent dizziness, and imbalance due to hypocalcemia. Physical examination was slim in appearance, had marfanoid features, and presented the typical apathetic face. He had a narrow rib cage and pectus excavatum deformity. Laboratory findings included serum calcium of 7.4 mg/dL, phosphorus of 4.87 mg/dL, albumin of 4.5 g/dL, intact parathormone (iPTH) of 13.3 pg/mL, 25(OH) D3 vitamin of 16.3 μg/L, daily urinary calcium excretion of 23.4 mg/day. Noncontrast computerized tomography (CT) of the brain showed bilateral basal ganglia calcification. Abdominal ultrasonography and CT showed the absence of renal tissue in the left kidney site and pelvis (left renal aplasia). Audiometry revealed mild sensorineural hearing loss at high frequencies. Conclusions. The patients with HDR syndrome are often diagnosed when they are examined for symptomatic hypoparathyroidism and deafness. To the best our knowledge, the present case is the second case of Barakat Syndrome reported from Turkey. The treatment of HDR syndrome is focused on clinical symptoms. The prognosis of the disease correlates with hypoparathyroidism and the severity of renal disease. HDR syndrome has an autosomaldominant inheritance, screening of family members is recommended for early diagnosis and treatment.