ACTA ENDOCRINOLOGICA (BUC)

Context. Previous studies have associated overt/ subclinical hypothyroidism and obesity but have failed to confirm a causative relationship between them. Confusion is even more for subjects with Hashimoto’s Thyroiditis (HT). Objective. In this study, we aimed to evaluate the fat distribution and metabolic profile of subjects with euthyroid HT as well as to establish an appropriate cut-off level of TSH for the development of metabolic syndrome (Mets) in both groups. Patients and Methods. All subjects were euthyroid whether under levothyroxine replacement or not. We recruited 301 volunteers (99 with HT and 202 without thyroid autoimmunity). Together with some metabolic variables, we measured the waist circumference, hip circumference, neck circumference manually; the total body fat with a body composition analyzer; and the visceral fat/ trunk fat percentage via abdominal bioelectrical impedance analysis. Results. A significant positive correlation was established between TSH levels and insulin, fasting plasma glucose, HOMA-IR and body mass index (r=0.28; p<0.001; r=0.27; p<0.05: r=0.32; p<0.001: r=0.13; p<0.05 respectively). The prevalence of Metabolic Syndrome (Mets) was comparable in HT and control groups (27.3% vs. 30.7%; p>0.05). The prevalence of Mets was similar when HT subjects using levothyroxine or HT subjects with accompanying thyroid nodules were taken into consideration. Similarly, anthropometric and metabolic parameters were similar in both the HT group and the control group. We were unable to establish the TSH cut-off level by ROC analysis with desired sensitivity and specificity (AUC: 0.563 with 95% C.I. p=0.35; standard error 0.76). Conclusions. Although weight gain is frequently encountered in subjects with HT, such subjects with thyroid function tests in the euthyroid range have a similar prevalence of Mets and similar metabolic and anthropometric measurements compared to subjects without autoimmunity.

Pituitary stalk interruption syndrome (PSIS) is characterized by the coexistence of an absent or thin pituitary stalk, an ectopic posterior pituitary (EPP) lobe, and an absent or hypoplastic anterior pituitary lobe. A 1-year-old boy presented with micropenis, and undescended testis associated with growth hormone, thyroid stimulating hormone, and gonadotropin deficiencies. Pituitary hypoplasia, EPP, and a missing pituitary stalk were seen on magnetic resonance imaging (MRI). Whole-exome sequencing (WES) revealed compound heterozygous variants in the KATNIP gene (NM_0.15202.5: c1461G>A / c.4035delC) in the recruited individual, and subsequent familial segregation showed that family established the trans position for c.1461G>A and c.4035delC variants.

Background. Several studies observed metabolic disorders in pregnancy as risk factors for birth defects, including orofacial clefts. Diabetes is associated with approx. 10% of the pregnancies, but in Romania, less than 5%. An obese and diabetic woman has 3 times more risk for an offspring with a craniofacial defect than healthy women suggesting that diabetes mellitus contributes to their pathogenesis with complex mechanisms. Case report. We present the case of a newborn 4 days old, male with neonatal hypoglycemia, cleft lip and proportionate (symmetric) macrosomia. His mother is a 35 years old Caucasian woman with no important personal risk factors and no known history of diabetes mellitus. The glucose tolerance test performed to the mother at about 10 weeks during pregnancy led to the diagnosis of gestational diabetes. Discussion. The gestational diabetes mellitus diagnosed since the 10th week of pregnancy, the hyperglycemia status during pregnancy and the fetal overgrowth (macrosomia at birth) indicate the possible factors that lead to the Orofacial cleft (OFC). Conclusion. With the increased prevalence of obesity, diabetes, and the evidence of association of these syndromes with OFCs, it is recommended that mothers planning to become pregnant to follow healthy habits, maintain healthy weight, and be screened for possible diabetes prior to conception and early in pregnancy.

Context. The links between obesity and thyroid function or thyroid volume in children are still controversial with limited available data. Objective. This study aimed to examine thyroid function and volume in obese Turkish school-age children in comparison to normal-weight children. Design. Cross-sectional study. Subjects and Methods. One hundred obese children (47 boys, 53 girls; mean age 10.34±2.79 years) with a body mass index (BMI) above 95th percentile, and 100 normal-weight children (42 boys, 58 girls; 10.34±2.79 years) were included. The study parameters were BMI z score (Z-BMI), body surface area (BSA), thyroid volume, free thyroxine (fT4) and thyroid stimulating hormone (TSH) levels. Results. The mean TSH and fT4 levels did not show a significant difference between obese and normal-weight children (p>0.05). The mean thyroid volume was higher in obese children (6.46±5.84 and 4.64±1.44, respectively; p=0.043). fT4 correlated negatively with Z-BMI in both normal-weight and obese children (r=-0.285, p=0.004 and r=-0.289, p=0.004, respectively). Thyroid volume, on the other hand, correlated positively with Z-BMI, again in both normal-weight and obese children (r=0.657, p<0.001 and r=0.444, p<0.001, respectively). Similar associations were found for BSA. Conclusions. Thyroid volume correlated positively and fT4 correlated negatively with Z-BMI and BSA, in both obese and normal-weight school-age children, whereas TSH appears to be independent of these parameters.

Objectives. Turner Syndrome (TS) is associated with a high risk of cardiac anomalies and cardiovascular disease. We aimed to evaluate patients with TS (n=33) for cardiac and aortic pathology using thorax magnetic resonance angiography (MRA). Subjects and methods. Clinical findings, karyotypes, echocardiogram (ECHO) findings and thorax MRA results were evaluated. Aortic dimensions were measured and standard Z scores of aortic diameters along with aortic size index (ASI) were calculated. Results. Mean age of the patients was 13.7±3.4 years. MRA revealed cardiovascular pathology in 10 patients (30%). CoA (n=4), aberrant right subclavian artery (n=3), dilatation of the ascending aorta (n=1), tortuosity of the descending aorta (n=1) and fusiform dilatation of the left subclavian artery (n=1) were found. Two of the four patients with CoA found on MRA were detected with ECHO. Mean diameter of the sinotubular junction was found to be elevated [mean±SD: 2.4±1.5]. Z scores for the diameters of the isthmus, ascending aorta and descending aorta were in normal ranges. 45,X patients were found to have significantly higher ASI values than non 45,X patients (p=0.036). Conclusion. Our findings indicate that patients with TS should be evaluated with MR imaging studies in addition to ECHO to reveal additional subtle cardiac and vascular anomalies. CoA which is very distally located or which has mild nature may not be seen by ECHO. The increase in ASI observed in 45,X patients may herald the development of life-threatening complications. Therefore, frequent followup is warranted in these patients.

Context/Objective. The standard approach is to perform repeat FNAB (rFNAB) in thyroid nodules with nondiagnostic (ND) / insufficient (UNS) cytology. However, due to the nature of these nodules, recurrent FNABs may also be insufficient. Therefore, by comparing the clinicalradiological- pathological parameters of nodules with a definite diagnosis of excision, we questioned the possibility of patient management without rFNAB. Methods. Clinical-radiological parameters of 275 nodules belonging to 264 patients in the ND/UNS aspiration group with definite pathological diagnosis after surgery were determined. Under the guidance of these parameters, those with and without rFNAB were compared. Results. The incidence of malignancy was found to be significantly higher in nodules without rFNAB compared to nodules with rFNAB (p = 0.036). In addition, the incidence of malignancy in BC-1 nodules without rFNAB was significantly higher than in nodules with rFNAB result also BC-1 (p = 0.009). In all cases, nodule size smaller than 10 mm and border irregularity were found to be statistically significant for malignancy (p <0.020, p <0.002). When looking at the distribution of rFNAB results, a significant correlation was observed with female gender, solid component, hypoechogenicity, border irregularity and halo loss around the nodule in patients with BC-4,5,6 cytology results (respectively, 0.005 / 0.031 / 0.001 / 0.012 / 0.004). Conclusion. rFNAB did not show the expected effect in ND / UNS nodules. We recommend direct surgical excision without rFNAB for nodules with border irregularity, solid structure, halo loss and hypoechogenicity, which should be considered more important in female patients.

Introduction. Congenital hypothyroidism (CH) is a prevalent cause of intellectual disability, preventable with early detection and treatment. Levothyroxine (LT4) is the standard treatment, but its efficacy can be compromised by drug interactions. Case Description. We present an 18-day-old boy diagnosed with CH, who exhibited elevated thyroidstimulating hormone (TSH) levels despite LT4 treatment. Upon increasing the LT4 dose and observing persistent TSH elevation, further investigation revealed the concurrent use of simethicone-containing colic drops. Literature suggests that simethicone can interfere with LT4 absorption. The colic drops were discontinued, leading to normalized TSH levels. Additionally, macro-TSH, indicated by a polyethylene glycol (PEG) precipitation test, was considered to contribute to the elevated TSH levels. Discussion. This case underscores the necessity of thorough medication history reviews in patients with CH. Drug interactions, such as those with simethicone, can significantly impact LT4 efficacy. Moreover, the presence of macro-TSH should be considered when TSH levels are disproportionately elevated. Conclusion. Clinicians should be vigilant about over-the-counter medication use and potential interactions in managing CH. Comprehensive patient history and careful monitoring are critical to optimizing treatment outcomes.

Context. Studies indicate a decrease in spatial memory across species as they age. Moreover, consistent administration of Gonadotropin-releasing hormone (GnRH) improves learning abilities in older rats that have undergone gonadectomy. Objective. The aim of this study was to investigate the effects of the GnRH agonist, leuprolide acetate (LA) on spatial memory in aged intact male rats and the expression of proteins associated with hippocampal plasticity. Subjects and methods. Aged male rats were injected with LA or saline every three days for nine weeks to assess the effects of LA on spatial memory. The aged rats were trained in the Morris Water Maze for four days, and the evaluation took place on the fifth day. Additionally, the Y-maze test was used to investigate short-term spatial memory. The expression of spinophilin and microtubule-associated protein 2 (MAP2) in the hippocampus was measured. Results. Behavioral tests revealed that LA improves spatial memory in aged rats. Additionally, we observed increased expression of spinophilin and MAP2 in the hippocampus of aged male rats following LA treatment. Based on these results, the administration of LA holds is a potential treatment for restoring cognitive function in aged individuals.

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Background. Adiponectin, vaspin and leptin are only a few of these numerous adipocytokines. Little is known about the behavior of adipocytokines and how adipose tissue metabolism is affected in this Type 1 DM model. In this study we investigated the serum levels of adiponectin, leptin, vaspin in streptozotocin(STZ) induced diabetic rats. Material and methods. Twelve Spraque Dawley albino rats were included in the study. The animals were divided into two groups. The first group was diabetic (D) (n: 6) and 60mg / kg STZ was administered intraperitoneally (i.p.) to these rats. The second group was the non-diabetic control (ND) group (n: 6). All the animals were euthanized by cervical dislocation. Quantification of vaspin, Adiponectin, leptin in serum was performed using the ELISA kit. Results. Adiponectin, vaspin levels of diabetic group were found to be statistically lower than of control group (p<0.05). Leptin levels were significantly higher in the diabetic group (P<0.05). Conclusion. There is a need for new researches that can explain the relationship between Vaspin, Leptin and Adiponectin and Type 1 diabetes. New studies in this area will open new horizons for the identification of new biomarkers in the diagnosis and treatment of Type 1 diabetes.