ACTA ENDOCRINOLOGICA (BUC)

experience regarding the first 24 patients diagnosed with refractory secondary and/ or tertiary hyperparathyroidism (HPT) who underwent subtotal parathyroidectomy (sPTx) in our clinic between 2010 and 2012. Methods. Data were retrospectively retrieved from a prospectively maintained database. We included patients diagnosed with refractory secondary and/or tertiary HPT who underwent sPTx; we excluded patients who underwent total parathyroidectomy (tPTx) and patients followed-up for less than six months. Results. We analyzed 24 patients,16 women (66.7%) and 8 men (33.3%) who were evaluated in a prospective manner in a short (1-6 months)/ medium (6-18 months) term follow up. Preoperative intact parathyroid hormone level (iPTH) was characterized by a median of 2131 pg/ mL (range: 1141-10000); in the first month after surgery the median iPTH level was 28 pg/mL (range: 3-1263). We found a statistically significant difference (p<0.01: Student test) in calcium level between preoperative values and values in the first month after surgery. Postoperative serum phosphorus (nv: 2.7-4.5 mg/dL) normalized in 19 patients (79.16%) and serum alkaline phosphatase values decreased significantly in the interval 2-6 months postoperative versus preoperative levels (p-0.002). We tried to establish a correlation between preoperative alkaline phosphatase (Alk Phos) and postoperative calcium level in the first month postoperatively. The overall clinical response to sPtx was good and we did not encounter postoperative mortality in our series. Conclusion. We believe that subtotal parathyroidectomy is feasible, safe and effective for patients with refractory secondary and tertiary hyperparathyroidism.

49, XXXXY karyotype syndrome has an incidence of between 1/85 000 and 1/100 000 live births. Typical clinical features include hypogonadism, mental retardation with severe learning difficulties, craniofacial and skeletal abnormalities, but also congenital heart disease. We report on a 4 year-old boy diagnosed with severe generalized hypotonia during his first year of life. Behavioural and cognitive profiles of the case are presented. MRI shows apart from global volume loss and atrophy, scattered punctate foci of T2 signal hyperintensity in the white matter. Endocrine investigations revealed impaired GH concentration during clonidine test, low IGF-1 concentration and cryptorchidism. Long term follow-up of patients with polysomy X by a team of specialists in pediatric neurology, endocrinology and cardiology is mandatory.

kidney disease (CKD), a growing public health issue, than in general population. The key issue in management of fragility fracture in CKD patients is determining whether fractures have occurred as a result of qualitative abnormalities (consequences of renal osteodystrophy or CKD-mineral and bone disorder), a reduced bone mineral density (osteoporosis) or a combination of both. In CKD patients bone histomorphometry is the gold standard for evaluating bone quality and strength, but the routine use of this method is not practical. Fracture risk can be assessed in this population by DEXA (Dual-Energy X-Ray Absorptiometry), but biochemical markers, like intact PTH and bone-specific alkaline phosphatase may be helpful. The new and emerging high resolution imaging tools need more studies for a correct evaluation of their utility in predicting fracture risk. Pharmacological therapies for fragility fracture based on current understanding of the metabolic disturbances in CKD will be reviewed. Antiresorptive and anabolic agents used in the treatment of osteoporosis are discussed with special focus on CKD population.

Context. Parental history of osteoporosis is associated with an increased risk of fracture. However, there are not many data on the mechanism of action. Our objective was to determine if heredity influences fracture rate: independently or through the bone mineral density; to identify also the strongest independent risk factors of osteoporotic fractures among our study population. Methods. We processed data of 541 women outpatients with an average age of 55 years, participating in an osteoporosis screening program. Our results confirm that the presence of family history significantly increases fracture prevalence, (37% vs. 17%, p<0.001, OR 2.853, p=0.001) and decreases BMD scores. Fractures occur at higher (better) T and Z-scores. The risk of having T values in the range of (0- -1) and Z values in (-1--2) is much higher in the positive group. The logistic regression analysis confirms the BMD-independent influence of heredity on fracture risk. Conclusions. Parental history of osteoporosis negatively affects bone density and significantly increases the incidence of fractures. The latter happens also independently of the bone density values. Timely intervention in these easy-to-detect cases may be the most effective prevention of osteoporotic fractures.

Context. Non-psychogenic polydipsia-induced hyponatremia is a rare clinical finding. The effects of severe hyponatremia on the electrical activity of the heart in this setting are far from clear. Case report. Resting ECG and 24-h ambulatory ECG monitoring performed in an 80-year-old hypertensive female accusing nonspecific symptoms of confusion, lethargy, disorientation, nausea, and palpitations, demonstrated significant intraatrial and atrioventricular conduction disorders and numerous atrial tachyarrhythmia episodes. Laboratory analysis revealed severe hyponatremia (108 mEq/L) as only significant disorder. Extensive endocrine, neurological, cardiology, and pulmonary examinations excluded the most common causes of hyponatremia, including the inappropriate antidiuretic hormone secretion syndrome. Careful history revealed excessive voluntary water intake of up to 6 L/day and low sodium intake, associated with long-term thiazidelike diuretic treatment. Correction of sodium levels was associated with complete resolution of both atrial arrhythmias and conduction disorders. Conclusions. This report presents the first case of severe hyponatremia caused by combined non-psychogenic polydipsia and thiazide-like diuretic use complicated with reversible cardiac conduction disorders and atrial arrhythmias. The close temporal relationship between the fully reversible cardiac electric abnormalities and severe hyponatremia strongly indicates hyponatremia as key feature in the pathogenesis of these electric abnormalities.

Prader-Willi syndrome (PWS) is commonly caused by the absence of the paternal contribution for imprinted genes in chromosomes 15q11.\r\nWe present a case of a 16 years-old girl with hypotonia, feeding difficulties, failure to thrive and strabismus during infancy followed by hyperphagia, early-onset obesity with insulin-dependent diabetes mellitus and necrobiosis lipoidica diabeticorum, short stature, hypogonadotropic hypogonadism and some of the facial characteristics of individuals with PWS. Routine Giemsa banded chromosomes were obtained from peripheral blood lymphocytes. Karyotype analysis showed a mosaic triple X (46,XX/47,XXX). Using\r\nmethylation studies of the PWS critical region (SNRPN locus) and by polymorphic microsatellite analysis, the existence of microdeletion of the critical area on paternal\r\nchromosome 15 was shown in white blood cells. Mosaicism for triple-X was observed in other three reported patients with PWS but in all of these reported cases an uniparental maternal heterodisomy for chromosome 15 was described. The X chromosome mosaicism in our case is presumed to have arisen postzygotically. The findings in our patient provide evidence that these two chromosomal anomalies are not related and had occurred together coincidentally. Genetic counseling for this family should consider these two conditions separately and provide separate recurrence\r\nrisks for each.