ACTA ENDOCRINOLOGICA (BUC)

Context. Congenital hypothyroidism (CH) is one of the most common preventable causes of intellectual disability, and can be diagnosed in the early period through neonatal screening programs. Objective. The purpose of this study was to determine the prevalence of CH and recall rates in the province of Adıyaman. Design. This retrospective study evaluated the data of newborn screening program in Adıyaman province between January 2015 and December 2020. Subjects and Methods. The thyroid-stimulating hormone (TSH) cut-off value in the screening program is 5.5 mIU/L and TSH values lower than 5.5 mIU/L are regarded as normal. Babies with TSH levels exceeding 5.5 mIU/L were defined as ‘recalled’. TSH measurements and clinical diagnoses of the recalled babies were evaluated. Results. TSH was <5.5 mIU/L in 62270 (90.08%) of the newborns, 5.5-20 mIU/L in 6114 (8.84%), and >20 mIU/L in 742 (1.07%). Venous T4-TSH values were normal in 673 of the 742 babies with TSH levels exceeding 20 mIU/L, while 63 babies were diagnosed with CH. Heel blood results were normal in 5880 of the 6114 babies with TSH levels of 5.5-20 mIU/L and for whom repeat heel blood was requested. TSH levels in repeat heel blood were >5.5 mIU/L in 184 babies and 93 of them were diagnosed with hypothyroidism. The recall rate among babies undergoing heel blood TSH measurement in the province of Adıyaman was 9.9%. 156 babies were started on thyroid replacement therapy with diagnoses of CH. The incidence of babies diagnosed with hypothyroidism was 1/443. Conclusion. According to the CH screening results, the recall rate and incidence of CH in the province of Adıyaman were higher than the global general figures. Both the low TSH threshold value employed in neonatal hypothyroidism screening and the province falling within the iodine deficiency region may account for this.

Introduction. Pituitary adenomas (PA) are the third most common intracranial tumors, with an incidence rate of 10-15%. More than half are invasive, infiltrating adjacent structures. The primary objective of this project was to determine whether MGMT expression is associated with the invasiveness of PA. Material and Method. All patients who underwent surgical decompression consecutively between 2007- 2012 were included. All data were obtained from the case records. Formalin-fixed paraffin-embedded (FFPE) tissue specimens were stained with hematoxylin and eosin (HE) and then examined via light microscope. Paraffin blocks that lacked necrosis and hemorrhage were chosen for histologic examination. In addition to an immunoprofile battery that consisted of Ki-67 and p53, MGMT, S-100 and Pan-CK were evaluated as well. Results. The subjects included 25 women and 15 men. The mean age was 48.9 ± 14.5 years. Of these, 63% of cases involved the invasion of adjacent structures. Of the PA, 17 (42%) were non-functioning pituitary adenomas (NFPA). There was a statistically significant relationship between the invasiveness and Ki-67, p53, MGMT expression, and prolactinoma. Gonodotropinomas were mostly non-invasive. FPAs presented invasive features more frequently than NFPAs. Pan-CK was positive in GH-secreting adenomas but negative in FSH- and LH-secreting adenomas. Conclusion. Ki-67 and p53 in lower expression level can be used for evaluating invasiveness but not for recurrence. MGMT expression can be a useful IHC indicator for invasiveness. However, Pan-CK cannot be used for invasiveness or aggressiveness.

Objective. To determine the prevalence of overtreatment and hypoglycemia in Turkish type-2 diabetes patients and to identify the risk factors. Methods. Patients ≥ 65 years, having a minimum 5 years of type-2 diabetes, were included in the study. Patients’ body mass index, mean HbA1c level, disease onset and medications related with their co-morbidities were recorded. Over-treatment is defined as the use of non-metformin therapies despite having HbA1c levels < 7%. A history of hypoglycemia episodes in the last three months and patients’ home blood glucose measurements were recorded. Factors relating to hypoglycemia and over-treatment were analyzed. Results. After applying criteria, 755 patients were included in the study: 728 patients (96.4%) had at least one comorbidity. 257 patients (34%) were found to have HbA1c levels < 7%. 217 of them (84.4%) were using non-metformin therapies. 497 patients (65.8%) were using insulin. The overtreatment prevalence in the ≥ 65 years group was 28.7%. The over-treatment ratio in ≥ 80 years group was 28.2%. Hypoglycemia prevalence in the last three months was 23.3%. It was 22.7% for patients ≥ 80 years. Mean age, disease duration, body mass index, insulin usage and doses were found to be significantly different in over-treated patients compared to the others. Conclusions. This study showed that despite recent guidelines, there is still a considerable amount of overtreated geriatric patients who are at risk of hypoglycemia and related morbidity and mortality. Insulinization rate was high. Physicians should not avoid de-intensifying the treatment of geriatric patients who have multiple co-morbidities.

Context. Diabetes is a chronic disorder with a complex pathogenetic background including monogenic, polygenic, and environmental causes. Objective. The aim of the present paper is to share the information related to genetic and clinical data of large pediatric diabetes cohort. Design. The present study retrospectively analyzes genetic and clinical findings of subjects diagnosed with diabetes under the age of 18 year and are in follow-up in a pediatric diabetes referral center. Subjects and Methods. Out of 1205 children with diabetes (902 treated with insulin) 246 underwent genetic tests on the basis of clinical selection criteria since 2007. Results. One hundred and ten variants related to diabetes were found in 89 of them. Age at presentation was 9.5±4.02 years (F/M 44/45). In total 49 pathogenic and likely pathogenic, 11 “hot and warm” of unknown significance variants were found in fourteen MODY and fifteen non- MODY genes according to criteria developed by American College of Medical Genetics. Thirty novel mutations were found. GCK (26.6%) and ABCC8 (10%) were two most frequently affected genes. Antibody testing revealed negative results in 80% of cases. Conclusions. Genetic interpretation in selected cases is important to understand the nature of the disease better. Improvement in testing opportunity and awareness might increase the prevalence of genetically explained diabetes cases. The distribution of subtypes differs between countries and even regions of the same country.