ACTA ENDOCRINOLOGICA (BUC)

Introduction. Antioxidants and unsaturated fatty acids have protective effects in obesity. Aim. We investigated the benefits of Omega-3 fatty acids associated with antioxidant vitamins in obese children. Magnesemia and calcemia were observed in relation with other metabolic parameters, before and after the treatment. Materials and methods. 60 obese children were compared with 35 normal weight children. Each obese child received daily, one pill, containing: 130mg docosahexaenoic acid, 25mg of eicosapentaenoic acid, vitamin A 200μg, vitamin D 1,25μg, vitamin E 2,5mg and vitamin C 30mg for three months. All the participants were instructed not to change their lifestyle. Results. The serum values for these minerals and for 25(OH) vitamin D were lower in obese children. The obese children had insulin resistance (HOMA-IR) and an imbalance of serum adipocytokines. In obese children, the body mass index was negatively correlated with calcemia (r=-0.34) and serum 25(OH) vitamin D (r=-0.33). The HOMA-IR was negatively correlated with magnesemia (r=-0.34) and serum adiponectin (r=-0.29). The treatment improved the mineral serum level, the insulin sensitivity and the adipocytokines levels. Conclusion. In obese children, the intake of Omega-3 fatty acids associated with antioxidant vitamins, for three months improved calcemia and magnesemia and increased insulin sensitivity.

Introduction. Primary osteoporosis during childhood and adolescence represents an uncommon condition, and secondary forms are more likely to manifest at this age due to chronic disease and adverse effects of medical treatment. Case report. The authors report the case of a young male patient with a history of multiple idiopathic nonvertebral fragility fractures in addition to a family history of maternal osteoporosis and fracture, in whom osteoporosis was confirmed according to 2013 International Society for Clinical Densitometry (ISCD) criteria. Bone markers indicated low bone formation marker osteocalcin. Genetic testing revealed homozygosity for Sp1 COL1A1 gene polymorphism in combination to Fok-I vitamin D receptor (VDR) heterozygous polymorphism, to contribute to low bone mass and increased fracture risk. Severe premenopausal osteoporosis was present in the patient’s mother, who was also tested positive for both gene polymorphisms. Conclusion. This case report highlights the association between COL1A1 and VDR candidate gene polymorphisms and fragility fractures in a family. Individual genetic testing might be of clinical value in idiopathic osteoporosis in young patients, identifying subjects at increased fracture risk.

The most common cause of hypercalcemia is parathyroid hyperplasia and carcinoma. Tuberculosis(TB) and sarcoidosis are the most common granulomatous diseases of the parathyroid. We report a case of parathyroid adenoma that can mimic many lesions. A 46-year-old woman on continuous ambulatory peritoneal dialysis (CAPD) with symptoms and signs of hypercalcemia. Laboratory findings were consistent with tertiary hyperparathyroidism. She underwent elective parathyroidectomy due to high PTH values despite effective treatment including calcimimetics and vitamin D receptor activators. Subtotal thyroidectomy and three and a half of parathyroid adenomas were removed. Histopathological examination revealed features of parathyroid adenoma with granulomatosis infection that supports tuberculosis. In order to confirm the pathological findings, the PCR study was performed on the pathology specimens. After obtaining a negative result, the treatment was stopped. We have reported a case of parathyroid adenoma that mimicking tuberculosis.

We present a 18 year old phenotypic female patient who presented for primary amenorrhea. Pelvic ultrasound revealed a hypoplastic uterus and CT scan showed a hypoplastic right gonad and a left gonadal tumor with extrapelvic location. Karyotype was 46XY. Hormonal assessment indicated hypergonadotropic hypogonadism: FSH was 39.69 mUI/ml, estradiol was 28.07 pg/ml, testosterone was 0.17 ng/ml. DHEA level was high – 21 ng/ml. Gonadectomy was performed at 15 years and histologic examination diagnosed left gonadoblastoma and right teratoma in a dysgenetic gonad. The patient had a good postoperatory evolution. Menses were induced with estrogenic and then estroprogestogenic treatment. Plastic breast surgery was performed at 18 years. Establishing the genotypic sex in patients with primary amenorrhea represents a crucial step knowing that intersex disorders bearing Y chromosomal material have a high risk for gonadoblastoma and germ cell tumors.

Background. Adipose tissue is linked to cardiovascular and metabolic complications of diabetes by increased local production of adipokines that may lead to oxidative stress and endothelial dysfunction. Objective. The aim of the present study was to investigate the association between plasma adipokines levels and anthropometric and systemic endothelial dysfunction markers in obese type 2 diabetic patients. Materials and methods. Two groups of type 2 diabetic patients were selected considering their Body Mass Index (BMI) value: group 1, overweight (BMI= 28.4 -29.9 kg/m2; n = 35) and group 2, obese (≥30 BMI≤ 40 kg/m2; n = 45). In all patients there were assessed: height, weight, waist and hip circumference, visceral fat index, albumin/creatinine ratio (ACR), plasma levels of insulin, proinsulin, adiponectin and leptin. The HOMA-IR and waist to hip ratio (WHR)were calculated as well. Results. Comparing the obese diabetic patients with the overweight ones, plasma levels of leptin were higher (p<0.001) while adiponectin levels were lower (p<0.05). BMI was positively correlated with leptin (r=0.661, p<0.001) and negatively with adiponectin (r=-0.338, p=0.008). Moreover, leptin was positively correlated with the waist circumference (r=0.453, p<0.001), visceral fat index (r=0.555, p<0.001) and HOMA-IR (r=0.370, p=0.004) while adiponectin was negatively correlated with waist circumference (r=-0.350, p=0.006), visceral fat index (r=-0.269, p=0.038) and HOMA-IR (r=-0.318, p=0.013). We have also found positive correlation for ACR with HbA1c (r=0.549, p<0.001), glycemia (r=-0.411, p=0.001), HOMA-IR (r=0.445, p<0.001) and with leptin (r=0.276, p=0.033) and negative correlation with HDL-cholesterol (r=-0.304, p=0.018). Conclusions. Leptin and adiponectin, as indicators of chronic low grade inflammatory syndrome are involved in the pathogenesis of insulin resistance and endothelial dysfunction in obese type 2 diabetic patients.

Primary Hyperaldosteronism is one of the causes of secondary hypertension. Primary Hyperaldosteronism is characterised by an increase in the production of aldosterone and the inhibition of the secretion of renin. We described here a case with rhabdomyolysis and severe hypokalemia as a cause of primary hyperaldosteronism. The creatine kinase, aldosterone were very high. Cortisol values and midnight salivary cortisol values were within normal range. The patient had been under treatment for high blood pressure for more than six years, with ARBs and calcium channel blockers. During this time the potassium values measured frequently every year were below normal range, but primary hyperaldosteronism was not suspected.

Denosumab,a monoclonal IgG2 antibody directed against RANK-L,is used as a neoadjuvant therapy for inoperable or metastatic giant cell tumor of bone. Many side effects like as hypocalcemia during treatment and rarely severe hypercalcemia especially in children after discontinuation of denosumab occurred. The unpredictable onset and recurrent episodes of severe hypercalcemia increase the duration of hospitalization and the risk of complications. Persistent hypercalcemia and difficulties in management have prompted the search for different more effective therapeutic options. Objectives. To share our experience with the use of oral bisphosphonate in acute and long-term therapy of severe hypercalcemia following high-dose denosumab therapy and to review the literature on this subject Case. We report the management of a case of severe hypercalcemia that developed 4 months after the completion of 18-month denosumab treatment in a 9-year-old girl who was followed up with a giant cell bone tumor for 6 years. Based on an evaluation aiming to determine etiology, hypercalcemia was considered as "rebound-linked" upon denosumab discontinuation. Severe hypercalcemia attacks recurring with an interval of 2 weeks were treated with IV bisphosphonate, but when mild hypercalcemia developed again, treatment with 70 mg per week of oral bisphosphonate was planned. After the second dose of alendronate, the calcium level always remained below 10.5 mg/dl. In the 14-month follow-up, no hypercalcemia attack was observed again. Results. Rebound hypercalcemia can occur as an unpredictable recurrent episode at any time after denosumab cessation. Thus, the patient should be closely monitored especially in childhood due to rapid bone cycle. In longterm follow-up, oral biphosphonates can be used effectively to reduce hospitalization time and the management of especially life-threatening recurrent attacks.

Aim. To investigate the cause of infertility in an azoospermic man and to describe the phenotype of a new 46,XX male case. Case report. We present the case of an infertile man, 33 years old, with a history of several years of infertility, diagnosed with the 46,XX male syndrome, SRY positive. The patient was diagnosed by clinical, hormonal, ultrasound and genetic criteria. Our patient was born at 39 weeks of pregnancy, from unrelated parents. The mother’s age was 22 years old and father’s age was 23 years old at the time of the conception. Both of his parents were exposed to chemical noxae before his conception. The case we report is a SRY positive 46,XX male with complete masculinization, confirmed by FISH and molecular analyses, caused by an X/Y chromosome inter-change during paternal meiosis. Conclusions. In our case, the SRY translocation, could probably be related to the paternal exposure to external factors like chemical noxae, but more data are necessary. Cytogenetic and molecular analyses are necessary for an accurate diagnosis, as well as endocrine testing and pelvis ultrasound.