ACTA ENDOCRINOLOGICA (BUC)

We report ATR/X syndrome in two brothers aged 11 months and 6 years respectively. They were born to young, normal and nonconsanguineous parents, and belong to a sibship of five, the other three sisters being normal and healthy. The diagnosis was suspected on particular craniofacial dysmorphism associated with mental retardation (profound in the older brother and moderate in the younger). Hematological investigations and in particular the presence of HbH inclusions in the red cells (α-thalassemia) were conclusive for the diagnosis. The presence of 1% of HbH inclusions in the red cells of the mother and the pedigree analysis confirmed the X-linked inheritance.

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.

Anthracyclines are used in breast cancer both in early and advanced stages and their recommendation together with taxanes, either concurrently or sequentially, is debatable and individualized by phenotype. Circulating biomarkers have already been introduced in clinical practice for metastatic disease monitoring. We questioned whether it might be a role for these markers in neoadjuvant and adjuvant settings too and a general review was conducted. CK18 and CTC were found predictive for anthracycline related response in preoperative setting. Soluble E-cadherin is promising, a retrospective analysis showing a direct correlation with clinical response. CEA, CA 15-3 and HER2 ECD are not of interest for their predictive role.

The discovery of the cannabinoid receptors CB1 and CB2 in 1990 and 1993, respectively, as well as of the two main endocannabinoids, anandamide in 1992 and 2-arachidonylglycerol in 1995, was an important step in identifying the strongest homeostatic system in the human body, namely the endocannabinoid system. Ever since, research has highlighted the crucial part played by this system in all the reproduction stages: folliculogenesis, spermatogenesis, oogenesis, fecundation, transport of the egg through the fallopian tubes, blastocyte implantation and pregnancy progression, as well as its implications in the physiopathology of the reproductive system: in endometriosis, ectopic pregnancy, miscarriage, preeclampsia, endometrial cancer, polycystic ovary syndrome, ovarian cancer. A special attention must be paid to the phytocannabinoids, natural components originating especially from the Cannabis plant inflorescences, whose medical effects are wellestablished nowadays with also acting on the receptors of the endocannabinoid system. The most recent research mainly focuses on the reproductive dysfunctions and disorders of the reproductive tissues, respectively, through its action upon the endocannabinoid system. Medical cannabis is nowadays legalized in more and more countries all over the world. At the same time, recreational cannabis remains one of the most consumed drugs (in Romania the most consumed one by young adults). Therefore, it is mandatory for specialists in obstetrics and gynecology, endocrinology, public health, hygiene or for general practitioners, to permanently update their information on this subject.

An increased risk of non-Hodgkin?s lymphoma was found for a personal history of autoimmune conditions: rheumatoid arthritis, systemic lupus erythematosus, celiac disease, autoimmune hemolytic anemia, Crohn?s disease, psoriasis, sarcoidosis and thyroiditis. The associations may not be general but rather for specific non-Hodgkin?s lymphoma subtypes. These non-Hodgkin?s lymphoma subtypes develop during postantigen exposure stages of lymphocyte differentiation, consistent with a role of antigenic drive in autoimmunity-related lymphomagenesis. We present the case of a 30 years old mane, with simultaneous diagnosis of Graves? disease and a huge anterior mediastinal mass which was actually the mediastinal involvement of a diffuse large B-cell lymphoma stage III. The patient had also hypercalcemia, remitted after two courses of chemotherapy. The possible relationship between the two diseases and the role of parathyroid hormone related peptide PTHrP in paraneoplastic syndrome is discussed.

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.

Background. Clomiphene citrate (CC) is a safe and widely available first-line ovulation induction drug in women with polycystic ovary syndrome (PCOS). Obesity may trigger the syndrome development in the presence of genetic predisposition or independent causal factor by inducing low insulin sensitivity. Objectives. The aim of this study was to compare the serum AMH levels in obese women with PCOS and obese women with ovulatory cycles, and to assess the role of AMH as a predictor of ovulation induction in obese patients with PCOS by CC as compared to follicle-stimulating hormone (FSH). Subjects and methods. Fifty-six obese infertile women with PCOS with a BMI greater than 30kg/m2 were compared with a control group of 30 obese women with normal ovulation. After ovulation induction treatment with CC, the PCOS group was further subdivided in responders and nonresponders. AMH level was assessed as an ovulation induction predictor using area under the curve (AUC) analysis, logistic regression and statistical correlation. Results. Serum AMH level was significantly higher in women with PCOS than in the controls. There were no significant differences in age, duration of infertility, weight, height, LH, and FSH, but significant differences in AMH level (p < 0.01), endometrial thickness (p < 0.01) and progesterone level (p < 0.01) between the patients responding and non-responding to treatment. Endometrial thickness (AUC = 0.932) and progesterone level (AUC = 0.732) were of predictive value for treatment response. A cut-off level of 1.92 ng/mL for AMH showed a good discriminative power for the positive response to treatment (AUC value = 0.819, p< 0.0001). Conclusion. AMH measurement could be useful in predicting ovarian response to clomiphene citrate therapy in obese anovulatory women with PCOS.

The incidence of type 2 diabetes is continuously growing worldwide, with enormous costs for individuals as well as for society. In the last decades, bariatric surgery has emerged as a possible solution for ameliorating metabolic control or even obtaining diabetes remission. Observational trials and metaanalyses demonstrate consistent improvement of type 2 diabetes following various bariatric procedures, but they are generally uncontrolled or they use historic controls as comparators. In recent years, several randomized trials studying the effectiveness of bariatric surgery in type 2 diabetes have been conducted and they all show substantial benefits, with the observation that the majority are shortterm trials. With the increased popularity of diabetes surgery, concerns about its immediate and long-time safety have also grown. The most frequent peri-operative are ulcers or stenosis, obstruction, venous thrombosis, pulmonary embolism and other pulmonary complications, with a mortality of less than 1%. Gastro-intestinal diseases, nutritional deficiencies and psychiatric disorders are the most important longterm problems to be addressed. The uncertainty regarding the long-term effects of bariatric surgery, together with its potential for morbidity and mortality, underline the necessity of large, long-term, randomized clinical trials comparing the best medical therapy with bariatric surgery in patients with type 2 diabetes.

Objective. Exercise intensity is one of the most important factors that determines the effects of exercise; however, there is little known about the acute glycemic control of different exercise intensities on patients with Type 2 Diabetes Mellitus (T2DM). Here we aimed at exploring the influence of a single bout of exercise with different intensities on blood glucose levels in T2DM patients. Methods. Fifteen subjects (54.7 ± 5.8 years old) participated in a session of walking (WG), jogging (JG), or sedentary control (CG) in a randomized order on three different days. Distances in both WG and JG were set as 2 Km with a speed set as 4~4.5 Km/h for walking and 5~6 Km/h for jogging based on pretrial test. Blood glucose levels at fasting (~6:30am), pre-exercise (~8:30am), post-exercise (~9am), 11am and 4pm were detected. Results. Walking and jogging reached approximately moderate and high intensity based on the immediate post-exercise heart rate and RPE scores. Blood glucose levels at fasting, pre-exercise and 4pm were not substantially different among all groups (p > 0.05). JG had a significantly lower post-exercise blood glucose level (p < 0.05) when compared with CG and WG. The blood glucose level at 11am was notably lower in WG and JG than in CG (p < 0.05). Conclusions. Both a single bout of jogging and walking can lower postprandial blood glucose levels in T2DM patients. When matched for exercise distance, jogging represents a more effective strategy to immediately lower postprandial glucose levels than walking.

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.