ACTA ENDOCRINOLOGICA (BUC)

Calciphylaxis, also known as calcific uremic arteriolopathy (CUA), is usually observed in women and it is a serious complication of hyperparathyroidism secondary to chronic renal failure. CUA is characterized by ischemic tissue loss secondary to progressive vascular degeneration. Although it is rare, it may end up with sepsis and organ failure and can be fatal. Its pathogenesis is not fully understood, but it is thought that it occurs secondary to increased calcification activators such as oxidized LDL, TNF- α, calcitriol, fibronectin, collagen-I, and TGF-1α. The most effective treatment is managing underlying pathology and decreasing serum calcium and phosphorus levels. In this report, we aimed to present an end stage renal failure case with coexisting hyperparathyroidism, hyperthyroidism and calciphylaxis in whom cutaneous manifestations were healed 6 months after parathyroidectomy.

We describe one case of sellar and suprasellar chordoma found in a 44 year old female, with bitemporal hemianopsia and secondary amenorrhea, submitted to transfrontal surgery and telecobaltotherapy. Chordomas are slow growing neoplasms arising from notochordal remnants of the axial skeleton. The second most common site for chordomas, after the sacrococcygeal region, is the base of the skull. Skull base chordomas commonly result in cranial nerve deficits, such as blurred vision, facial weakness and swallowing difficulty. Occasionally, chordomas localized in the hypothalamic or pituitary region may lead to pituitary stalk disjunction, pituitary insufficiency and diabetes insipidus. Studies show that early diagnosis, combined with aggressive surgical resection, offers the best chance for long-term survival. Although optimal treatment consists of wide excision with adjuvant radiotherapy, skull base chordomas are rarely amenable to complete surgical removal. Traditionally, postoperative irradiation is delivered to doses of 6000-6500 cGy; however this approach controls the chordoma only for a few years. Prognosis depends on the histological grade of the tumor, atypical chordomas showing the lowest survival rate.

Background. Idiopathic hypercalciuria is a risk factor for nephrolithiasis. Both renal stones and hypercalciuria are associated with lower bone mineral density (BMD), but the relationship between these modifications is not completely understood. Aims. To evaluate some metabolic particularities possibly related to relapsing nephrolithiasis (RN) in young male patients. Methods. We performed a crosssectional study including a group of 30 young male patients with RN and a group of 30 healthy, age and BMI (body mass index) matched controls (CTR). We evaluated calcium and phosphate metabolism, bone remodeling markers alkaline phosphatase (AP) and osteocalcin in serum and 24-hour urine samples, and lumbar and hip BMD. Results. We observed higher values of serum calcium (P<0.05) and 24 hour urinary calcium (P<0.001) in the RN group. Parathyroid hormone (PTH) and AP were also higher in the RN group (P<0.01), whereas serum 25OH-D3 was lower (P<0.01). BMD, T and Z scores were lower in the RN group in both the lumbar (P<0.01) and hip (P<0.05) regions. Conclusions. Young male patients with hypercalciuric RN have lower BMD and higher bone turnover. Higher PTH levels related to vitamin D deficiency may contribute to bone demineralization in certain cases.

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 &#8211; 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.