ACTA ENDOCRINOLOGICA (BUC)

Context. Natriuretic peptides (NP) and oxytocin (OT) play an important role in cardiovascular and hydroelectrolytic homeostasis. Changes in NP levels and their roles in cardiovascular adaptations in pregnancy and labor have not been clear. Objective. The present study aimed to investigate the changes and correlations in plasma levels of atrial natriuretic peptide (ANP), C-type natriuretic peptide (CNP), B-type natriuretic peptide (BNP) and OT during labor and the postpartum period. Study design. Blood samples were collected from 29 healthy pregnant women in the active phase of spontaneous labor, 15 minutes after delivery and 3 hours postpartum. Plasma levels of OT and the stable N-terminal fragments of NPs (NT-proANP, NT-proCNP, NT-proBNP) were measured using enzyme or electrochemiluminescence immunoassays. Results. The plasma levels of NT-proANP and NTproCNP significantly decrease 3 hours postpartum compared to the active phase of labor and to 15 minutes after delivery. The plasma NT-proBNP levels significantly higher after delivery and 3 hours postpartum compared to the active phase of labor. A significant correlation exists between OT and NTproANP levels during the active phase of labor and 15 minutes after delivery. Conclusions. The data show that during labor and postpartum, the plasma concentrations of the NPs change differently. Elevations in NT- proBNP after delivery suggest that BNP may be involved in postpartum adaptations. The correlations between OT and ANP levels indicate that OT may be partly responsible for the increased levels of ANP and may have a role in the modification of the cardiovascular system.

Context. Overproduction of proinflammatory cytokines plays a significant role in the pathogenesis of Hashimoto’s thyroiditis (HT). Recent studies revealed a prominent role of newly discovered Th17 subset in the induction of autoimmune disorders and that the signaling induced by IL-23 on Th17 cells is crucial to obtain a pathogenic and sustained phenotype. The objective of this study was to provide the involvement of interleukin IL-23/ IL-17 axis in pathologic processes. Design. Serum levels of IL-23 and IL-17 in controls and HT patients were studied in different stages of disease activity. Subjects and methods. We investigated 93 patients with HT: 33 patients with newly diagnosed euthyroid HT (Group I), 11 patients with newly diagnosed hypothyroid HT (Group II), and 49 subjects treated with Levothyroxine (Group III). Thirty healthy subjects were included as controls. Concentrations of IL-23 and IL-17 in the serum samples of patients and controls were evaluated by enzymelinked immunosorbent assay. Results. Serum level of IL-23 was significantly higher in all HT patients (p<0.0001) as well as in subgroups of patients in comparison with controls (p<0.01). Serum concentrations of IL-17 were statistically increased in the group of HT patients (p=0.014); the differences in IL-17 levels between groups I and III in comparison to healthy controls were also significant, but not for group II. Conclusions. Our results highlight the involvement of the IL-23/IL-17 axis in the development of HT and its severity. Moreover, upregulated secretion of IL-23 could be a biomarker for progression and monitoring of HT.

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.

Turner syndrome is the most common sex chromosomal abnormality in about 1:2000-2500 live female births. While short stature and delayed puberty are the most common presentations of patients, atypical findings can also be seen. In this article, we present the Turner twins, who were diagnosed during inguinal hernia surgery when bilateral uterus and ovaries were found within the hernia sac. To the best of our knowledge, our cases were the first defined heterokaryotic monozygotic twins with isochromosome Xq 46,X,i(X)(q10) and Xq mosacism (46,X,i(X)(q10;q10) [42]/47,X,i(X)(q10;q10)x2[8]).

Context. Several enlarged parathyroid glands could be found during thyroid surgery in normocalcemic patients without evidence of primary or secondary hyperparathyroidism, indicating multiglandular parathyroid gland disease (MGD). Objective. Clinical role of various levels of serum ionized calcium (Ca2+) in patients diagnosed with incidental MGD during thyroid surgery remains controversial. The aim of the study was to evaluate the features of PHPT and the clinical role of serum Ca2+ in normocalcemic patients diagnosed with incidental MGD. Study design. A prospective study of patients with normal preoperative Ca2+ to be operated on for thyroid diseases in 2010-2013 and diagnosed with MGD during thyroid surgery. Methods. An analysis of clinical data from 3,561 patients to be surgically treated for thyroid diseases revealed 219 (6%) patients with MGD and normal serum Ca2+. Further data analyses showed patients with MGD and high normal (≥1.25 – 1.3 mmol/L) serum Ca2+ (n = 89) and with moderate-low (1.0 – 1.24 mmol/L) serum Ca2+ (n = 130). Results. Primary hyperparathyroidism was diagnosed intra- and post-operatively in 48 (54%) patients with high-normal serum Ca2+ and in 2 (2%) patients with moderate-low serum Ca2+ (p<0.0001). Parathyroid hormone, serum Ca2+ as well as urine calcium excretion were elevated in 2 (2%) patients with moderate-low serum Ca2+ and in 18 (20%) patients with high-normal Ca2+ at follow-up (p<0.0001). Conclusion. Serum Ca2+ level within the normal range, but higher than 1.25 mmol/L (high-normal) is associated with primary hyperparathyroidism, which should be considered in patients with visually diagnosed MGD, but without clinical symptoms of hyperparathyroidism.

Background. Heterozygous gain-of-function mutations in the glucokinase (GCK) gene cause hyperinsulinaemic hypoglycaemia (GCK-HI), while lossof- function mutations lead to a monogenic type of diabetes (GCK-MODY). We, herein, report a heterozygous GCK gene mutation in a large family with GCK-MODY and insulinoma in one individual from the same family. Patients and methods. The proband, an 11-yearold male, was referred for asymptomatic mild hyperglycemia (fasting glucose:121 mg/dL) and HbA1c of 6.1%. Segregation analysis of the family revealed multiplex members with asymptomatic fasting hyperglycaemia or non-insulindependent diabetes and 33-year-old maternal uncle of the proband case had a history of distal pancreatectomy due to the diagnosis of insulinoma. His preoperative investigations were revealed fasting glucose of 31 mg/dL, insulin: 7μU/ mL, C-peptide: 2.6 mg/dL, and a low HbA1c(4.0%) which was suggestive for recurring hypoglycaemia episodes. Postpancreatectomy he developed mild fasting hyperglycemia (115-136 mg/dL). Results. Genetic analysis revealed heterozygous p.Ser453Leu(c.1358C> T) mutation in the GCK gene in the proband. In segregation analysis, the identical heterozygous p.Ser453Leu(c.1358C> T) GCK gene mutation was detected in all of the other affected family members for whom a DNA analysis was applicable. The maternal uncle was first diagnosed with insulinoma and underwent a pancreatectomy. He also had an identical mutation in a heterozygous state. Conclusion. We, to the best of our knowledge, firstly identified these two entirely distinct phenotypes of glucose metabolism, GCK-MODY and GCK-HI, due to an identical heterozygous p.Ser453Leu (c.1358C> T) mutation in the GCK. Further studies required to elucidate this new phenomenon and understanding the genotype-phenotype relationship of GCK gene mutations.