ACTA ENDOCRINOLOGICA (BUC)

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Developments in the understanding of the molecular basis of water permeability of the red blood cell (RBC) have taken place rapidly since the discovery in 1985 in Cluj- Napoca, Romania, by the group of Benga of a water channel protein (WCP), later called aquaporin 1 (AQP1), in the RBC membrane. However, the physiological role of AQP1 is not yet fully understood. Investigations of RBCs from human subjects of various ages could help shed light on this important issue. We present a short review of our studies on this topic that were published in less “visible” journals and books. The diffusional water permeability (Pd) of the RBC membrane has the lowest values in the newborns. Then Pd values are increasing in children, reaching at about 7 years a value that remains rather constant in young and mature subjects. The high permeability to water of the RBC membrane can be correlated at these ages with the ability to undertake a high level of physical activity. In elderly individuals (over 65 years) a further small, but statistically significant, increase in the diffusional water permeability of RBC was observed. In this case the higher RBC water permeability can be correlated with a requirement of the RBC membrane to favour the membrane undulations and the rapid entry or exit of solutes of molecular size greater than water, in conditions when the organism is less physically active, probably has lower metabolic rates and lower mean rates of blood circulation.

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Carbimazole is a common drug used to treat hyperthyroidism. Agranulocytosis is a known adverse effect of these anti-thyroid drugs but plasmacytosis simulating multiple myeloma is a very uncommon manifestation of this drug. We report here the case of a patient of hyperthyroidism who developed febrile neutropenia while on carbimazole with the preliminary marrow findings simulating plasma cell myeloma.

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Background. Primary hyperparathyroidism (PHPT) is caused most commonly by a solitary adenoma and less commonly by multiglandular hyperplasia of the parathyroid glands (MGD). Minimally invasive parathyroidectomy (MIP) has become a frequently used strategy, but there are limitations to current preoperative localization techniques. Results. We report the case of a patient, 63 years old, female, with clinical and biochemical features of primary hyperparathyroidism (total serum calcium: 10.1mg/dL; PTH: 171pg/mL). Neck ultrasonography (USG) revealed a mixed hypoechoic tumor along the posterior aspect of the left thyroid lobe of 1.54x0.78 cm, being difficult to say if it was intrathyroidal or not. There was only minimal residual uptake in the left thyroid lobe at 4 h on Tc99m sestamibi imaging. She underwent USG-guided fine-needle aspiration (FNA) of the suspected tumor followed by PTH measurement from the needle washing (FNA-PTH). The cytology was non-diagnostic but the level of PTH in the aspirated fluid was 10.000 pg/ mL. The patient underwent an en bloc resection of the left thyroid lobe and the tumor, which was curative, as calcium (8.9 mg/dL) and PTH (25.52 pg/mL) decreased from the first day after surgery. Histopathology of the surgical specimen revealed a left parathyroid adenoma made of chief cells and included in the thyroid capsule together with the entire left thyroid lobe. Conclusion. This case report highlights the importance of FNA-PTH in the localization of functionally parathyroid tissue in difficult cases, where a clear target exists.

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.

The incidence of primary adrenocortical insufficiency is 4.7 to 6.2 per one million. Among primary cancers developed in the adrenal gland, malignant lymphoma is very rare. We report here on an 82-year-old male patient who had primary adrenocortical insufficiency caused by bilateral adrenal lymphoma.

Context. This is the first case of proton pump induced hypomagnesemia and hypocalcemia, accompanied with increased parathormone levels. Objective. The proton pump inhibitors are widely used medications. They are considered safe, however, they have some side effects. One of these side effects is hypomagnesemia. Here we report a case with severe hypocalcemia and hypomagnesemia due to long term proton pump inhibitor. Case. A 73 years old woman, admitted to emergency room due to generalized tonic-clonic seizures. She had a previous history of muscle cramps and paresthesia for 4 months. She had a medical history of peptic ulcer and she was taking omeprazole for 7 years. Her laboratory evaluation showed marked hypomagnesemia [0.5 mg/dL (normal: 1.7-2.55 mg/dL)] and hypocalcemia [6.2 mg/dL (8.8-10.2 mg/ dL)] with extremely low urinary calcium (Ca) and magnesium (Mg) excretion [0.01 gr/24 h (normal:0.05-0.3 gr/24 h), <1.22 mg/24 h (normal: 9.7-12.20) respectively]. Her vitamin D level was normal [35 ng/ mL (normal:30-80 ng/mL)] and PTH was increased [129 pg/mL (normal: 15-65 pg/ mL)] in accordance with the secondary hyperparathyroidism. Symptoms resolved with the intravenous supplementation of calcium gluconate and magnesium sulphate. However, despite high levels of oral replacement, Mg levels remained low. With omission of omeprazole two months after the admission, her ion levels returned to normal without any replacement. Conclusion. Especially elderly patients with long term proton pump inhibitor therapy, should be monitored for the symptoms of hypocalcemia and hypomagnesemia.