ACTA ENDOCRINOLOGICA (BUC)

Objective. Thyroid diseases coexisting with primary hyperparathyroidism (PHPT) may individually change the diagnosis, treatment and follow-up of the patients. In our study, we aimed to investigate the thyroid diseases coexisting with PHPT and the relation between\r\nthese two clinical situations.\r\nMethods. We retrospectively investigated 255 patients who were diagnosed as PHPT between 2004-2009 in our clinic. The general characteristics of the patients, laboratory tests,\r\nwhich were performed preoperatively, neck ultrasonography, thyroid and parathyroid scintigraphy and fine needle aspiration biopsy (FNAB) results were assessed. Cytological\r\nresults of the nodules with preoperative FNAB were compared with the postoperative histological results.\r\nResults. Of the patients, 49 were male (19.2%) and 206 were female (80.8%). Mean age was 54.5?12.8. Bilateral neck exploration (BNE) was performed on 69 cases (27%),\r\nminimal invasive parathyroidectomy (MIP) on 78 cases (30.5%) and BNE plus thyroidectomy on 108 cases (42.5%). When all thyroid diseases were taken into account,\r\nprevalence of the coexisting thyroid disease was 65%, prevalence of nodular thyroid disease 52.1%, thyroid cancer 16.7% and thyroid dysfunction 11.8%. The mean age of the patients with a nodular goitre was significantly higher than of the patients who did not have nodules\r\n(p<0.001). General demographic data, calcium and PTH levels did not show any difference. Number of nodules was correlated with age (p<0.001, r=0.227).\r\nConclusion. The relation between PHPT and nodular thyroid diseases is coincidental and this can be explained by the fact that both diseases occur in advanced age.

Objective. Personal discrepancies in gastrointestinal physiology might influence responses to GH suppression during OGTT. We aim to compare growth hormone (GH) response during oral glucose tolerance test (OGTT) and intravenous glucose tolerance test (IVGTT). Methods. Data of 18 healthy volunteers were analyzed in the study. Subjects were firstly evaluated with standard 75-g OGTT. In subjects with serum glucose <100 mg/dL at basal state and <140 mg/dL at 120th minute of oral loading, IVGTT was performed after at least 3 days. Serum glucose, insulin and GH levels were measured during two tests. Results. Basal GH levels had a wide distribution ranging from 0.00005 μg/L to 0.768 μg/L (median 0.0145 μg/L). Mean nadir GH level during OGTT was obtained at 60th minute and it was 0.0376 μg/L(range 0.00011-0.387, median 0.0016 μg/L, SD: 0.095, SEM: 0.038). Nadir GH level during IVGTT was observed at 10th minute and it was 0.112 μg/L(range 0.0005-0.770 μg/L, median 0.0053 μg/L, SD: 0.242, SEM: 0.057). There was a statistically significant difference between nadir GH levels obtained during IVGTT and OGTT (p=0.028). Conclusions. We found that mean nadir GH level was significantly higher during IVGTT in healthy subjects. This is a preliminary study and further large scale studies are required to suggest that IVGTT may be used in the diagnosis and follow-up of patients with acromegaly as an alternative to or instead of OGTT.

Background. Plasma level of ghrelin is possibly reduced in Helicobacter pylori infection and may account for the resultant failure to thrive. Objective. To investigate relationships between Helicobacter pylori infection, and plasma level of ghrelin, anthropometric measurements, appetite, educational and economical status of parents. Methods. Ninety-four children were screened for Helicobacter pylori infection with C-14 urea breath test. Anthropometric measurements were performed in Helicobacter pylori (+) and (-) groups. Plasma ghrelin was measured. Parents were asked to fill out the questionnaire prepared by the researcher on the number of family members, parents’ level of education, monthly income and children’s status for appetite. Results. Plasma ghrelin was lower in Helicobacter pylori (+) group (20.00 ± 22.10 ng/mL), compared to Helicobacter pylori (-) group (79.72 ± 78.13 ng/mL). The percentiles of measurements for height, weight and body mass index were higher in Helicobacter pylori (-) group. Results of C-14 urea breath test were negatively correlated with height, weight and body mass index; however, no correlation was detected between the results of C-14 urea breath test, and plasma ghrelin, number of family members, levels of parents’ education and income. A negative correlation was observed between the results of C-14 urea breath test and appetite. Conclusions. Helicobacter pylori infection is considered to play a restricting role in growth potential by decreasing ghrelin level in children. Moreover, the existence of a negative correlation between the results of C-14 UBT, and weight, height and body mass index suggests a possible link between Helicobacter pylori infection and poor growth.

Objective. Congenital hypothyroidism (CH) is one of the common preventable causes of intellectual disability in neonates, by early detection through neonatal screening. We present the 8-year experience of the National Institute for Mother and Child Health (INSMC) in using MEDILOG national registry for the neonatal screening of CH. Methods. Neonatal screening for CH, done by TSH measurement in dried blood spot, is organized in 5 regional centers, each with a reference laboratory. Results. In 2018 80% of all the newborns, from 80% of the maternity hospitals, were registered in MEDILOG. After re-testing of TSH and T4/FT4 from venous blood in positive cases, the incidence of confirmed CH in 2018 was 1/3576 - 1/ 4746. In INSMC center (which includes 26 counties and Bucharest, out of 41 counties), in 2018 the incidence of positive CH cases at screening was 1/2094 (TSH cut-off ≥17 mIU/L) and of confirmed CH cases 1/3576 newborns. For positive screening cases, the median duration from birth to the INSMC laboratory result was 19 days: median of 9 days between screening and laboratory registration and 6 days between registration and test result. Conclusion. MEDILOG registry is a practical instrument for monitoring the steps of neonatal CH screening, the incidence of CH, the evolution of the diagnosed cases, for evaluation of iodine deficiency (by neonatal TSH), and also for research, with the aim of improving early disease detection and treatment.

Aim is to evaluate atherosclerotic risk factors and carotid intima media thickness [CIMT] in offspring of type 2 Diabetes Mellitus [DM] patients with normal glucose tolerance. Methods. We evaluated 96 offspring of Type 2 DM patients and 39 healthy control who were in similar age, sex and body mass. We measured fasting blood glucose [FBG], postprandial blood glucose [PBG], insulin, uric acid, homocystein, fibrinogen, HOMA-IR, lipid profile, hsCRP, microalbuminuria, glycosylated hemoglobin A1c and CIMT by Doppler ultrasonography. Results. FBG was found higher in study group [p<0.001]. The HOMA-IR was 1.7±0.98 and 1.2±0.58 mg/dL x uUI/mL for study and control group, respectively [p=0.007]. TCholesterol, triglycerides, HDL-C, LDL-C and homocystein levels were not different. HsCRP and fibrinogen levels were higher in study group [p=0.014 and p=0.035, respectively]. Microalbuminuria levels were higher in study group but not significant [p=0.111]. CIMT in study group increased distinctively [p<0,001]. In regression analysis, being in study group causes a significant increase on the mean CIMT level by 0.057 mm [0.029-0.086] Conclusion. Our study demonstrated that various atherosclerotic risk factors are aggregated in offspring of Type 2 DM patients having NGT even before they develop glucose intolerance. Having a diabetic family alone might be effective in developing increased CIMT.

Parathyroid cancer is an uncommon endocrine malignancy. It has slow clinical course and low malignancy potential. It represents 1% of primary hyperparathyroidism. It results with more agrressive biological behaviour and severe clinical condition than benign reasons. Extended resection in the first operation is essential for PC treatment and decreases local recurrence that is observed in high frequency. Palliative surgery should be considered in patients with unresectable tumor. Immunotherapy and recent interventional radiological procedures are considered for patients that are unfit to surgery. Effect of adjuvant chemotherapy and radiotherapy is limited however recent immunization studies are promising. Parathyroid cancer epidemiology, staging system, diagnosis and advancements in treatment are considered according to recent literature in this review.

Background. Sweet's syndrome (SS) or acute febrile neutrophilic dermatosis is a dermatological illness that can be described by tender erythematous plaques or nodules and acute onset fever. The etiology is multifactorial and is not fully understood. SS is separated in three subclasses: classical, malignancy-associated, and drug-induced. It was shown that this syndrome can reveal an underlying hematological or solid malignancy. Case presentation. We report the case of a 55-yearold female patient referred to the Urology department for management of pheochromocytoma in the right adrenal gland, revealed by abdominal imaging in another medical unit during the evaluation and diagnosis of multiple mucocutaneous lesions, characterized by erythematousviolaceous plaques and nodules, and painful aphthous ulcers of the tongue. The eruption of each lesion was preceded by low-grade fever and chills. The hormonal profile highlighted the presence of elevated normetanephrines. We performed 3D laparoscopic transperitoneal right adrenalectomy after preoperative treatment with alpha blocker therapy. The clinical outcome was favourable, given that the cutaneous lesions started to heal after the surgery. Conclusions. Sweet’s syndrome in association with pheochromocytoma is a very rare condition, only few cases were described in literature to our knowledge. The multidisciplinary collaboration is extremely important in the management of such cases.

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 &#956;g/L), not correlated with the period of pregnancy.

Background. Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder caused by congenital deficiency of enzymes involved in cortisol biosynthesis from cholesterol in the adrenal cortex. In this article, we aimed to present a 29-year-old female patient with I2 splice point mutation detected in one allele and P453S mutation on the other allele of CYP21A2 gene associated with 21-hydroxylase deficiency. Her further investigation revealed that her mother had P453S mutation and her father had I2 splice mutation. Case report. A 29-year-old woman with CAH was admitted to our clinic with the request of pregnancy. Her physical examination revealed a height of 151 cm, weight 59 kg, body mass index 25.8 kg/m2. According to Tanner staging, she had Stage 3 breast development and pubic hair. Her laboratory test results were as follows: Glucose: 79 mg/dL (70-100 mg/dL), Creatinine: 0.6 (0.5-0.95 mg/ dL), Sodium: 138 mEq/L (135-145 mEq/L), Potassium: 4.4 mEq/L (3.5-5.1 mEq/L), Cortisol: 0.05 μg/dL, ACTH: <5.00 pg/mL (5-46 pg/mL), 17-OH progesterone: 7.67 ng/mL (0-3 ng/mL). Chromosome analysis revealed a 46, XX karyotype. CYP21A2 gene mutation analysis was performed for the patient whose clinical history and laboratory results were compatible with congenital adrenal hyperplasia. During the reverse dot blot analysis, I2 splice mutation in one allele and P453S mutation in the other allele were detected. Conclusion. Although the I2 splice mutation detected in our case was mostly associated with a saltwasting form of CAH, it was thought that the other P453S mutation detected may explain the relatively good clinical course in our case.

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.