ACTA ENDOCRINOLOGICA (BUC)

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.

Background. Gestational diabetes mellitus (GDM) is associated with high frequency of obstetric complications, such as gestosis, polyhydramnios, urogenital infection, premature birth. An increase in the number of cases of detection of GDM in pregnant women living in Kazakhstan is noted recently. Objective. This research was carried out in order to see the influence of GDM on the course of the third trimester of pregnancy, outcomes and fetal status in women of Kazakh ethnic group. Research design. Cohort observational study. Subjects and Methods. The main group of research consisted of 61 pregnant women with GDM (Meanage= 32.8±6.314), the control group included 39 pregnant women with normal glucose tolerance (Meanage=30±5.432 years). The pregnant women in both groups were examined by calculation of body mass index (BMI), determination of fasting plasma glucose and the system of hemostasis. Also, the fetal ultrasound was implemented and the uterineplacental, fetal-placental blood flow were evaluated using the Doppler mode. Results. In the main group initial BMI was equal to Mean=31.1±7.433 kg/m2; we revealed manifestation of gestational hypertension in 36.1%, 95%CI (2.52, 48.6); preeclampsia was diagnosed in 14.8% (95%CI (8; 25.7); the disorders of uteroplacental and fetoplacental blood flow recorded significantly more frequently in main group RR=6.393, 95%CI (1.581-25.840), like the diabetic fetopathy RR=5.115, 95%CI (1.240-21.033). The premature delivery, the prevalence of induction of delivery and intranatal trauma were significantly more frequent in women with GDM. Conclusions. GDM significantly worsens course of gestation.

The coexistence of Cushing’s syndrome (CS) and pregnancy is uncommon due to the suppression of gonadotropin secretion in CS. Adrenocorticotropic hormone (ACTH) dependent CS in pregnancy is less frequent than adrenal causes. The diagnosis of CS during pregnancy is difficult since physiological changes in the hypothalamopituitary- adrenal axis may cause dynamic tests to be misinterpreted. Radiological imaging is limited. We report the case of a 27-year old woman with Cushing’s disease (CD) diagnosed in the 5th-week of pregnancy. The mild symptoms of hypercortisolism did not lead to serious complications for the mother or the fetus, so insulin was the only treatment used. The pregnancy was completed without any complications, and at 38 weeks of gestation a healthy female infant was delivered vaginally. Complications, such as hypocortisolemia and hypoglycemia, were not observed in the infant. Postpartum tests were consistent with CD. Contrast-enhanced pituitary magnetic resonance imaging revealed a microadenoma which was removed with transsphenoidal surgery. Histopathology revealed a pituitary adenoma with positive immunohistochemical staining for ACTH. Biochemical remission required prednisolone treatment, but the insulin requirement decreased significantly over time. As a conclusion, CD with mild features can be well tolerated during pregnancy, but the mother and the fetus must be monitored closely.

Objective. Parathyroid cyst is a rare disorder of the parathyroid, with a clinical presentation ranging from a nonsymptomatic mass to severe acute parathyroid crisis. We present here a case of a 73-year-old man who had a neck mass for 5 months before presenting to the emergency room with symptoms of severe hypercalcemia. The investigations during his admission led to the suspicion of a hyperfunctioning parathyroid cyst causing the hyperparathyroidism. Total parathyroidectomy was done. The mass was resected and confirmed to be a functional parathyroid cyst. Patient’s calcium levels returned to normal after excision. Genetic analysis of the mass showed a single missense mutation c.2164G>A (NM_000215), p.Val722ile (NP_000206) was identified representing the single-nucleotide polymorphism rs3213409 in the JAK3 gene. Conclusion. Parathyroid cysts, although rare, should be considered in a patient with a neck mass and hypercalcemia, We discussed the findings of our genetic analysis.

Context. The immune system has an important role in the etiology of depression, through the pro-inflammatory cytokines and acute phase protein mechanisms. In elderly people, frequent association between depression and medical conditions leads to a difficult psychiatric diagnosis, becoming necessary to determine a specific biological marker for this category of population. C-Reactive Protein (CRP) did not prove to have a high level of validity, but higher levels of high-sensitivity C-Reactive Protein (hs-CRP) were found to be associated both with cardiovascular disease and depressive disorder, through a bidirectional relationship. Objectives. To investigate the possible association between a major depressive episode and levels of inflammatory markers among a population of elderly. Subjects and methods. A prospective study on a sample of 82 individuals aged over 65 years, who presented for laboratory evaluations in an outpatient setting. They were recorded socio-demographic and clinical data; depression and anxiety were assessed using the Hospital Anxiety and Depression Scale. Blood samples were collected and analyzed according to the protocol of the study. Results. Anxiety, identified in 57 persons, was not statistically significant correlated with the levels of inflammatory markers. For depressive disorder (37 subjects), both CRP and hs-CRP were significantly higher, with an almost medium effect size. Conclusions. The high levels of CRP and hs-CRP are associated with the presence of depression in elderly patients, but not with the anxiety. Further and complex studies need to validate these findings on this group of age.

Context. Obesity is a chronic disorder with excessive accumulation and hypertrophy of adipose cells. Selective sodium-glucose cotransporter-2 (SGLT2) Inhibitor has shown an effect of weight loss in several studies. However, weight loss in patients with obesity without diabetes remains unclear. Objective. This systematic review aims to address the weight loss effects of SGLT 2 inhibitors in obese subjects without diabetes. Methods. We incorporated search engines from Pubmed, EBSCO host, and Proquest. The inclusion criteria for this research were full-text, written in English, written in Bahasa Indonesia, reported the effect of SGLT 2 inhibitors for weight loss in obese patients, the design of the studies, outcomes, and the results of the study. We created a data extraction table to gather the required data for the review. The exclusion criteria for this study were incomplete outcomes, not full-text studies, case reports, literature review, and irrelevant studies. Results. A total of 451 studies were identified from research database. There are 7 studies eligible to be included in this review. Weight loss effects of SGLT2 Inhibitors were observed in all the studies included in this review. Conclusion. SGLT2 inhibitor is an effective weight loss therapy in patients with obesity without diabetes.

Context. With the widespread use of neck ultrasound, parathyroid incidentaloma (PI) emerges as an additional opportunity for incidental detection of primary hyperparathyroidism (PHPT). Objective and design. This study aimed to investigate PHPT cases detected by PI and to compare them with other PHPT patients. A retrospective analysis of newly diagnosed PHPT patients between 2014 and 2020 was conducted in our hospital. Subjects and methods. The cohort of 124 subjects was divided in two groups: 22 (17.7%) PHPT patients detected by PI (PI PHPT group) and the rest of 102 PHPT patients (non-PI PHPT group). Overall, 21 PIs were discovered on ultrasound and one was found during thyroid surgery. Clinical features, work-up and management of two study groups were compared. Results. The PI PHPT group had lower ionized calcium at diagnosis (p=0.034), lower peak serum calcium during follow-up (p<0.01), less fractures (p=0.022) and was less likely to meet the international criteria for parathyroidectomy (p<0.01). Positive sestamibi scan (p=0.022) and confirmed concordant localization in at least two different parathyroid imaging techniques (p=0.033) were more likely in the PI PHPT group. The frequency of surgical management did not differ between groups. Conclusions. PHPT detected by PI is clinically relevant and mostly comparable to PHPT in other patients with some features that correspond more often to a mild disease. Higher rate of positive preoperative localization in PHPT detected by PI might encourage parathyroidectomy even without the international criteria met.

Background Supplementation of Lcarnitine is associated with improvement in some abnormalities present in hemodialysis (HD) patients. Objective. The study aim was to analyze the effect of oral L-carnitine supplementation on endothelial dysfunction (ED), oxidative stress (OS), inflammation and anemia in HD patients. Design. A prospective, longitudinal and observational study was performed in a single dialysis unit. Subjects and methods.We studied 31 HD patients: 21 patients formed the Lcarnitine supplementation group (group 1) and 10 entered the control group (group 2). At baseline and after 3 months of L-carnitine supplementation (500mg/day) we determined endothelial-dependent flow-mediated vasodilatation (FMD) and nitroglycerin induced endothelium independent vasodilatation, involving ultrasonographic brachial artery measurements, serum visfatin, malondialdehyde, body mass index, systolic blood pressure, diastolic blood pressure, interdialytic body weight gain, C-reactive protein, albumin, cholesterol, HDL-cholesterol, LDL-cholesterol, triglycerides, ferritin, transferrin saturation, hemoglobin, erythropoietin dose, calcium (Ca), phosphorus (P), parathormone and Kt/V . Results. In group 1, FMD (8.9 (4.5-12.5) to 10.6 (6.7-18), p=0.04) and Ca (8.4±0.6 to 8.8±0.5 mg/dL, p<0.001) significantly increased after L-carnitine supplementation, while visfatin (1.0 (0.2-1.3) to 0.4 (0-0.9) pg/mL, p=0.03), malondialdehyde (2.8 (2.4- 3.2) to 1.3 (1.2-1.5) nmol/mL, p<0.001) and P (5.6±1.3 to 5.0±1.2 mg/dL, p=0.005) significantly decreased. Albumin increased significantly in both groups (3.9±0.3 to 4.2±0.3 mg/dL, p<0.001 in group 1 and 3.7±0.3 to 4.0±0.3 mg/dL, p=0.02 in group 2). There were no other significant variations of the studied parameters. Conclusions. L-carnitine supplementation reduces ED, visfatin levels and markers of OS, but has no effect on inflammation, nutrition and anemia in HD patients.