ACTA ENDOCRINOLOGICA (BUC)

Objectives. Turner Syndrome (TS) is associated with a high risk of cardiac anomalies and cardiovascular disease. We aimed to evaluate patients with TS (n=33) for cardiac and aortic pathology using thorax magnetic resonance angiography (MRA). Subjects and methods. Clinical findings, karyotypes, echocardiogram (ECHO) findings and thorax MRA results were evaluated. Aortic dimensions were measured and standard Z scores of aortic diameters along with aortic size index (ASI) were calculated. Results. Mean age of the patients was 13.7±3.4 years. MRA revealed cardiovascular pathology in 10 patients (30%). CoA (n=4), aberrant right subclavian artery (n=3), dilatation of the ascending aorta (n=1), tortuosity of the descending aorta (n=1) and fusiform dilatation of the left subclavian artery (n=1) were found. Two of the four patients with CoA found on MRA were detected with ECHO. Mean diameter of the sinotubular junction was found to be elevated [mean±SD: 2.4±1.5]. Z scores for the diameters of the isthmus, ascending aorta and descending aorta were in normal ranges. 45,X patients were found to have significantly higher ASI values than non 45,X patients (p=0.036). Conclusion. Our findings indicate that patients with TS should be evaluated with MR imaging studies in addition to ECHO to reveal additional subtle cardiac and vascular anomalies. CoA which is very distally located or which has mild nature may not be seen by ECHO. The increase in ASI observed in 45,X patients may herald the development of life-threatening complications. Therefore, frequent followup is warranted in these patients.

Purpose. Previous studies have demonstrated the relationship between hyperthyroidism and increased risk of cardiac arrhythmias. The most common causes of hyperthyroidism are Graves’ disease (GD) and toxic nodular goiter (TNG). The aim of our study was to demonstrate if the underlying mechanism of hyperthyroidism, in other words autoimmunity, has an impact on the type of cardiac arrhythmias accompanying hyperthyroidism. Method. Twenty patients with TNG and 16 patients with GD who had overt hyperthyroidism were included in the study. Age, sex, thyroid hormone levels, thyroid autoantibody positivity, thyroid ultrasonography and scintigraphy results were recorded. 24-hour Holter ECG monitoring was performed in all patients. Results. Mean age was significantly higher in the TNG group compared to the GD group (62.9±11.5 vs. 48.9±8.6 years, p=0.001). Free T3 was significantly higher (7.87±3.90 vs. 5.21±1.53 pg/mL, p=0.033) in the GD group while free T4 and TSH levels were similar between the two groups. In 24-hour Holter ECG recordings nonsustained ventricular tachycardia (VT) rates were significantly higher in the GD group than in TNG group [18.75% (n=3/16) vs. 0% (n=0/20), respectively, (p=0.043)]. Paroxysmal atrial fibrillation (AF) rates were significantly higher in the TNG group compared to GD group [(30% (n=6/20) vs. 0% (n=0/16), respectively, (p=0.016)]. Conclusion. Although free T3 levels were lower, paroxysmal AF rates were found significantly higher in the TNG group which may be associated with significantly higher age of this group. On the other hand, higher rate of nonsustained VT in the GD group may be related to either significantly higher free T3 levels or autoimmunity.

Context. Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder, which is characterized by renal phosphate wasting, hypercalciuria, increased 1,25-dihydroxyvitamin D, and decreased parathormone (PTH) levels. Objective. Here we report different clinical features of two siblings with HHRH, confirmed with molecular diagnosis. Subjects and methods. 16.4 years old boy (P1), and 8.7 years old girl (P2) were referred to our outpatient clinic due to clinical suspicion of metabolic bone diseases. Results. P1 had severe hypophosphatemia. Additionally, PTH concentration was near to the lower limit, 1,25-dihydroxyvitamin-D concentration was near to the upper limit. P2 had relatively milder clinical and laboratory findings. Bilateral renal calculi were detected on ultrasound in both of them. HHRH was suspected due to their described biochemistry and the presence of bilateral renal calculi. Molecular analysis of SLC34A3 gene revealed a homozygous variant c.756G>A (p.Gln252=) and a splice donor variant c.1335+2T>A. After oral phosphate treatment, clinical and biochemical improvements were observed. However treatment nonadherence of patients was a barrier to reach treatment goal Conclusion. The clinical phenotype due to the same mutation in the SLC34A3 gene may vary even among the members of the same family. An accurate diagnosis is important for the appropriate treatment.

Context. We report the use of subcutaneous somatostatin injection three times a day to decrease hypercortisolism in a patient who had Cushing’s syndrome induced by bronchial carcinoid tumour progressive pneumonia due to immune suppression. Subject and Method. A 46-yearold man with 7-month history of DM type-2, hypertension and cerebrovasculardisease, vertebral compression-fracture was admitted to our clinic. Physical examination was consistent with Cushing’s syndrome. Laboratory results revealed hyperglycemia (143 mg/dL; reference range, <100 mg/dL) and hypokalemia (2.29 mEq/L; reference range, 3.5-5.1 mEq/L). His morning serum cortisol was 40 μg/dL (reference range 6.7- 22.6 μg/dL), urine cortisol-excretion was 2245 μg/24 hours (reference range 58-403 μg/24 hours), after 1 mg dexamethasonesuppression test serum cortisol was 28 μg/dL (6.7-22.6 μg/dL) and ACTH 354 pg/mL (reference range 7.9-66 pg/mL). Adrenal CT and hypophyseal MRI were normal. An ectopic source was searched for Cushing’s syndrome. Chest CT scan of the right lung showed 12x9 mm nodule. High fever cough occurred on the followp. Chest radiograph revealed diffuse pneumonic infiltration. Despite 3-drug antibiotic combination therapy, infection did not improve. Subcutaneous injection of octreotide 3x100 μ/g was initiated to decrease hypercortisolism. The infection improved rapidly after the therapy. The morning serum cortisol, urine cortisol-excretion, ACTH was at the upper normal range (77.1 pg/mL, reference range 7.9-66 pg/mL) on 10th day of treatment. The patient was a consulted for surgery and the nodule was excised. The pathology was consistent carcinoid tumor. Conclusion. Subcutaneous octreotide treatment may be helpful to gain time for exploring the focus in ectopic cushing’s syndrome and to control the serious infections due to hypercortisolism.

Context. Primary hyperparathyroidism related hypercalcemic crisis (PHHC) is a condition that may result in fetal course. So, the early diagnosis and treatment of these patients are important Objective. This study aimed to investigate the clinical features for hypercalcemic crisis (HC) by comparing the groups with and without primary hyperparathyroidism related calcemic crisis. Design. All patients operated with primary hyperparathyroidism (PH) diagnosis in a single clinic between March 2015 and March 2020 were included in this retrospective study. Subjects and Methods. 119 patients included the study.Patients with serum calcium (Ca) level > 14 mg/dl were regarded as HC and the patients were divided into two groups as HC and non-HC. These two groups were compared for demographic data, preoperative biochemical parameters, preoperative localization studies, histopathological assessment and postoperative results. Results. Serum Parathormone (PTH), Ca, Alkaline phosphatase (ALP) and creatinine values among preoperative biochemical parameters were higher in the HC group than the non-HC (p<0.005). The hyper-functional parathyroid size of the patients in the HC group was also bigger compared to non-HC (p<0.05). No difference was observed in the demographic and histopathological data, preoperative localization studies and postoperative results of the two groups (p>0.05). Conclusions. PH is usually an elective operation and PHCC treatment should be relatively more urgent as it can be mortal. Higher HC occurrence possibility should be considered in PH patients with high serum PTH, ALP and creatinine values and large tumor diameters and those patients should be prioritized for treatment.