ACTA ENDOCRINOLOGICA (BUC)

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.

Context. Spontaneous muscle infarction is a rare complication of diabetes mellitus, mainly affecting women and patients with long-lasting type 1 diabetes. Objective. This report is aimed to describe the case of a patient with type 1 diabetes and diabetic nephropathy in whom a severe deterioration of renal function was triggered by a muscle infarction. Subject and Methods. Subject of the study was a 33-years-old woman with an 18 years history of type 1 diabetes mellitus, proliferative diabetic retinopathy, nephropathy at stage 3 chronic kidney disease, somatic sensory-motor polyneuropathy and autonomic neuropathy. Results. The patient presented with severe pain and dysfunction of the left thigh without prior trauma plus progressive deterioration of the renal function. Nuclear magnetic resonance of the thigh showed inflammatory changes in the external vastus with hyperintensity on T2 sequence and edema of the subcutaneous cellular tissue. After other possible etiologies were ruled out, a clinical diagnosis of spontaneous muscle infarction was established. The patient needed hospital admission for two months, during which the renal function worsened until she required hemodialysis. No other possible triggers of kidney injury were identified. Conclusions. Up to our knowledge, this is the first described case where muscle infarction is suspected to have caused exacerbation of an existing chronic kidney failure. Monitoring the renal function should be considered in patients with diabetic nephropathy presenting with this rare complication of diabetes.

Iodine plays an important biochemical role in human organism; its insufficiency produces disturbances in the synthesis of thyroid hormones and increases the volume of the thyroid gland. Iodine deficiency in pregnant women has severe consequences on maternal\r\nbody and fetal development. The aim of this study was to determine the incidence of iodine deficiency in pregnant women from Cluj city and county. Urinary iodine levels were determined by the Sandell-Kolthoff method. A group of 100 pregnant women was studied. The results show a mean iodine concentration at the lower limit of the normal range (107.58 ? 91.16 μg/L), not correlated with the period of pregnancy.

Context. Permanent hypocalcemia is a rare but significant complication of thyroid surgery Objective. The aim of this study was to identify predictive factors of hypocalcemia and hypoparathyroidism after thyroidectomy . Design. Study included 134 total patients submitted to thyroidectomy from two endocrine units (January 2015 – August 2016). Methods. We measured total serum calcium (sCa) and intact PTH (iPTH) on postoperative day one and 1 month after surgery. Results. 118 patients were women with F/M ratio of 7.3/1 and a mean age of 51.8 years. 64 patients were included in group A (iPTH <12 pg/mL) and 70 patients in group B (iPTH >12 pg/mL). sCa and hypocalcemia symptoms were correlated with iPTH, measured 24 hours after surgery. The cut-off value was for sCa 8.05 mg/dL with a sensitivity of 85.29% and a specificity of 88.0% and for iPTH 11.2 pg/mL, with a sensitivity of 82.3% and a specificity of 71.0%. SCa (< 8.05 mg/dL) was a predictive factor with a 99 (IC95%:12.86- 761.58) and iPTH (<11.2 pg/mL) with a 10.77 higher risk (CI95%: 3.83-30.30) to be associated with symptoms. Conclusion. SCa and iPTH represent good predictive factors of early and safe hospital discharge and can predict the risk of prolonged and permanent hypoparathyroidism.

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.

Context. Physical activity is important for the management of metabolic functions; however, little is known whether performing home-based moderate-intensity exercise (MIE) obtains further improvement on metabolic functions in adults with non-communicable diseases (NCDs) who already perform regular gym-based MIE. Objective. The purpose of this study was to examine the effect of adding home-based MIE on metabolic functions in older adults with NCDs who have regularly performed gym-based MIE. Design. This was a single-center randomized controlled study. The observation period was set for 24 weeks. Subjects and Methods. Twenty-one older adults (age, 60–79 years) with uncomplicated NCDs, who have performed 30–40 min MIE, 2–3 days/week at a hospital gym for over 1 year, were randomly divided into two groups: performing home-based MIE, comprising aerobic and resistance exercises, at least 20 min/day, 3 days/week (HOME, n = 11), or not performing home-based MIE (CON, n = 10). All participants completed the study and continued their gym-based MIE as usual. Results. After 24 weeks, there were no significant differences in the values of any outcomes. Conversely, the decrease in waist circumference (WC) was larger in the HOME group (–2.17 [–3.98, –0.36] cm) than in the CON group (0.57 [–1.42, 2.56] cm) (p < 0.05), although not in other outcomes. Conclusions. Although further studies are needed, we found that adding home-based MIE had a positive effect on WC, but little effect on other metabolic functions in older adults with NCDs who have continued regular gym-based MIE.

Atherosclerotic Cardiovascular Diseases are the leading cause of death worldwide. Aim. To estimate the prevalence of cardiovascular risk (CVR) categories in the adult population (aged 40-79 years) of Romania. Design. The present study was part of the epidemiological, cross-sectional PREDATORR study (PREvalence of DiAbeTes mellitus, prediabetes, overweight, Obesity, dyslipidemia, hyperuricemia and chronic kidney disease in Romania). Subjects and Methods. Exclusion criteria: age <40/ or>79 years old and diagnosis of ischemic vascular disease. The CVR was evaluated using charts developed by the World Health Organization/ International Society of Hypertension (WHO/ISH) available for Europe B (epidemiological subregion where Romania was included). The CVR was divided into 5 categories: <10%, 10-20%, 20-30%, 30-40%, > 40%. Results. A total of 1631 subjects (57.0±10.7 years, 45.1% males) were included in the present study. The age and sex-adjusted prevalence of CVR >40% was 2.9% (95%CI 2.8-3.1%), CVR 30-40% was 1.85% (95%CI 1.8-1.9%), CVR 20-30% was 5.8% (95%CI 5.6- 6.0%) and 13.0% (95%CI 12.8-13.3%) of the adult Romanian population has a 10-20% CVR, these CVR categories being more frequent in male and older age. Diabetes, overweight/ obesity and smoking were associated with high CVR categories. Conclusion. Romania is one of the countries with high CVR, requiring CVD prevention measures.

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.

A 38 years old, heavy smoker, was admitted in our thyroid unit in August 1993 with left eye proptosis (21 mm), right eye prosthesis and euthyroidism. Orbital CT scan revealed inferior rectus muscle hypertrophy in the left orbit and possible residual (postoperative) lateral rectus muscle hypertrophy in the right orbit. Left eye proptosis was treated with both glucocorticoids and orbital radiotherapy.\r\nSeven years before (1986) the patient developed right eye proptosis, without clinical features of hyperthyroidism. Being suspected of a sphenoid ring meningioma and since orbital CT scan was not available at that time, a right orbit exploration was performed in November 1987; soon after orbital exploration, clinical features suggesting right orbital cellulitis occurred, followed by right eye evisceration and right eye prosthesis. After 18 years of Graves ophthalmopathy with euthyroidism, in February 2004 an autoimmune hyperthyroidism was diagnosed (suppressed TSH, high TT3, positive TRAb), being successfully treated with radioiodine. One year after the ablative therapy the patient is still euthyroid. A patient with euthyroid Graves ophthalmopathy should be monitored indefinitely, since a thyroid dysfunction may occur even after more than a decade.