ACTA ENDOCRINOLOGICA (BUC)

Context. Cardiomyopathy is the most frequent cardiovascular complication in acromegaly. Objective. We aimed to compare some echocardiographic markers in acromegaly patients with controls and find a correlation with disease duration, disease activity, levels of growth hormone (GH) and insulin-like growth factor 1 (IGF-1). Design. We conducted a cross-sectional casecontrol study for the period of 2008-2012. Subjects and methods. Acromegaly patients altogether 146 (56 men and 90 women), were divided into four groups according to disease activity and the presence of arterial hypertension (AH). The control group included 83 subjects, matching the patient groups by age, gender and presence of AH. GH was measured by an immunofluorometric method, while IGF-1 by IRMA method. All patients and controls were subjected to one- and two-dimensional transthoracic echocardiography, color and pulse Doppler. Results. We found a thickening of the left ventricular walls and an increase in the left ventricular mass. However, these changes were not statistically significant in all groups and no correlation with disease duration could be demonstrated. As markers of diastolic dysfunction, increased deceleration time and isovolumetric relaxation were registered, which were dependent mainly on age in a binary logistic regression analysis, but not GH or IGF-1. Using absolute values, ejection and shortening fractions were increased in some groups. Using cut-off values, a higher percentage of systolic dysfunction was demonstrated in patients compared to their corresponding controls. Engagement of the right heart ventricle was also found – increased deceleration time and decreased e/a tric ratio. Conclusions. In conclusion, functional impairments of both ventricles were present, with a predominance of left ventricular diastolic dysfunction.

Background. Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and insulin-like growth factor-1 (IGF-1). Empty sella (ES) is an anatomical condition of sella turcica that is partially or completely filled with cerebrospinal fluid mainly due to intrasellar herniation of subarachnoid space. Here, we describe a patient who presented with clinical and biochemical features of acromegaly and who had an ES on pituitary magnetic resonance imaging (MRI). Case report. A 73-year-old male patient was consulted in our clinic because of the acromegalic phenotype while planning for colorectal adenocarcinoma surgery. The patient noticed gradual enlarging of his hands, feet and nose for 30 years, but never consulted to any clinician for this reason. Serum GH was 20.6 ng/mL (normal <3 ng/mL) and IGF-1 was 531 ng/mL (normal, 69–200 ng/ml). An oral glucose tolerance test showed no suppression of GH values. T1-weighted MRI revealed an ES. 18F-FDG PET/CT and Ga-DOTATADE PET/CT did not show any finding consistent with ectopic GH secretion. Growth hormone releasing hormone (GHRH) was within the normal range (<100mg/dL). He was treated with long-acting octreotide 20 mg per 28 days. At the 6th month of treatment, serum GH and IGF-1 levels were decreased to 5.45 ng/mL and 274 ng/mL, respectively. Conclusion. The mechanism underlying the association of acromegaly and ES remains unclear. Apoplexy on existing pituitary adenoma and then formation of necrosis can proceed to ES. Since our patient did not have a history of pituitary apoplexy and we could not find any reason for secondary ES, we considered primary ES.

Context. Rapidly progressive precocious puberty (RPPP) is a rare condition in Turner syndrome (TS), with no consensus on treatment and follow-up. Only 12 cases have been reported so far. Objective. We aimed to evaluate the effects of the GnRH analog (GnRHa) on growth and anti-mullerian hormone (AMH) levels in TS and RPPP. Design. The clinical and laboratory data was recorded at baseline and after treatment. Subjects and methods. An 8.1-year old girl with a karyotype of 45, X/46, XX presented with breast development at Tanner stage-2. Breast development advanced to Tanner stage-3 at the age of 8.7 years. Growth velocity (GV) was 8 cm/year. Bone age was 11 years with a predicted adult height of 152 cm. Luteinizing hormone (LH) was 1.69mIU/mL and estradiol was 33pg/mL, confirming the central puberty. AMH level was 6.33ng/mL. The sizes of ovaries and uterus were compatible with the pubertal stage, with an endometrial thickness of 5 mm. GnRHa was started for RPPP. Results. After three months, GV declined to 0 cm/3 months and AMH level to 50% of the baseline. Growth hormone (GH) treatment was started for insufficient growth. GV improved with GH treatment, as well as a far more decreased AMH level. Conclusion. GV usually declines before puberty in patients with TS, even if the mid-parental height is tall. RPPP should be considered if GV is increased. Excessive suppression of growth may be prevented with GH treatment. GnRHa treatment also plays a role in reducing AMH levels in patients with TS.

Introduction. Wolfram Syndrome (WS) is a rare autosomal recessively inherited disorder characterized by juvenile-onset diabetes mellitus (DM), diabetes insipidus, optic atrophy (OA), hearing loss and neurodegeneration. This report describes three cases with WS. Case report. The first case was diagnosed with DM and OA at the age of 6 and 11 years, respectively. Second patient was the sibling of the first patient, also had DM and was investigated for WS after his brothers’ diagnosis. The third patient was diagnosed with DM at the age of 5 years and developed bilateral sensorineural hearing loss and OA at the ages of 7 and 12 years, respectively. Preliminary diagnoses of all patients were confirmed by Sanger sequencing of the WFS1 gene. Two previously reported and a novel mutation were detected. While our first patient was diagnosed with attention deficit hyperactivity disorder previously described in WS patients, obsessive compulsive disorder observed in case 2, was not previously reported in WS to the best of our knowledge. Puberty delay was detected in our first patient and was diagnosed as constitutional delay of puberty and growth. Conclusion. Early diagnosis of WS can lead to early detection of associated pathologies and to decrease complications, morbidity and mortality.

Introduction. Our aim was to investigate the relationship between serum omentin-1 levels and endothelial dysfunction in obese patients. Material and Methods. We evaluated 50 obese patients, and age/gender matched 45 healthy non-obese subjects as controls. Oral glucose tolerance test, lipid parameters, uric acid levels, homeostatic model assessmentinsulin resistance (HOMA-IR) index, serum omentin-1 levels and flow mediated dilatation (FMD) % were measured in all subjects. Body compositions were analyzed with bioelectrical impedance method using a Tanita Body Composition Analyzer and ViScan. Results. Serum omentin–1 levels were found significantly lower in obese population compared to the control subjects. FMD response was significantly decreased in obese population. There was a significant positive correlation between serum omentin–1 levels and FMD response (r=0.359, p<0.001). Serum omentin–1 levels were negatively correlated with body mass index (BMI), waist circumference, total fat percentage, visceral fat, fasting insulin and HOMA-IR index. Conclusion. Lower serum omentin–1 levels and decreased FMD response may be an early marker of endothelial dysfunction in obese patients.

Context. Visceral adipose tissue (VAT) is a strong predictor of carbohydrate metabolism disorders. Abdominal bioelectrical impedance analysis (A-BIA) is a simple method for the measurement of VAT and is a promising tool in screening and follow-up of abdominal obesity. However the role of A-BIA in dieting individuals has not been evaluated adequately in longitudinal followup studies. Objective. The aim of this study is to determine the role of A-BIA in identifying the changes in metabolic predictors after diet and/or exercise therapy. Design. All patients who sought weight loss treatment underwent baseline assessment and were prescribed a program of diet. After a mean follow-up of 3.2 months, data were analyzed. Subjects and Methods. Ultimately, 103 participants who reported adhering to the diet, enrolled to the study. We tested associations between changes in body composition measures and changes in laboratory measures using correlations and multivariate linear regression analysis. Results. Mean loss of body weight was 3.4±2.8 kg. All but waist-to-hip ratio, low-density lipoprotein cholesterol and high-density lipoprotein cholesterol levels changed significantly (p<0.001). Decreases in body weight, body mass index (BMI), and VAT level significantly correlated with decreases in fasting blood glucose, fasting insulin level, and HOMA-IR score (r=0.230–0.371). In multiple linear regression analysis changes in BMI and VAT significantly correlated with change in HOMA-IR score (F(7.93)=2.283, p=0.034, R2=0.147). Conclusion. Decreases in BMI and VAT, as determined by A-BIA, were predictors of changes in metabolic laboratory measures. A-BIA is useful for followup of patients receiving diet therapy for weight loss.

Purpose. Vitamin D insufficiency and age related cataract (ARC) are public health problems. We evaluated serum vitamin D levels in ARC patients. Method. A prospective hospital-based crosssectional study was designed to measure the vitamin D status of patients with ARC. Patients have grouped either presence of any type of posterior subcapsular cataract (PSC) (group 1) or ARC without the PSC component (Group 2). After full ophthalmologic consideration, patients over 40 years of age with no history of ocular trauma, multivitamin supplement ingestion, chronic renal failure, thyroidectomy, parathyroidectomy, skin cancer, and cigarette smoking were included in the study. Results. Totally, 79 subjects of which 26 (32.9%) subjects in group 1 and 53 (67.1%) subjects in group 2 were included in the study. Group 1 had mean vitamin D levels of 17.31±13.30 ng/mL. Vitamin D levels in Group 2 were 13.34±7.87 ng/mL. Group 1 did not show vitamin D insufficiency (P = 0.31; one-sample t-test). However, Group 2 showed a statistically significantly lower vitamin D level compared to the insufficiency level of 20ng/mL (P= 0.00; one-sample t-test). Conclusion. Vitamin D may have an important function in lens metabolism. Vitamin D deficiency and cataract development need further extensive researches.

Objective. This study aimed to investigate the effect of symptoms of diabetes on the quality of life of individuals with Type 2 diabetes. Method. The study used a cross-sectional design. No sampling procedure was employed in the study; instead, 410 individuals presenting to the Balikesir Atatürk City Hospital Endocrinology and Internal Medicine Polyclinics between December 2016 and July 2017, diagnosed with Type 2 diabetes, and meeting the inclusion criteria were enrolled in the study sample. The study data were collected with a “Socio-demographic Characteristics Questionnaire”, the “Diabetes Symptom Checklist”, and the “SF-36 Quality of Life Questionnaire”. Results. The participants obtained the highest mean scores from the hyperglycemia subscale of the Diabetes Symptoms Checklist (3.35±0.60) and the mental health subscale of the SF-36 Quality of Life Questionnaire (50.65±8.10). The hypoglycemia, cardiology, psychology, and neurology variables included in the model were statistically significant and predicted 35% of the mental subscale score of the SF 36 questionnaire. SF 36 physical subscale score increased as the hypoglycemia, cardiology, psychology, and neurology scores decreased (p<0.05). Conclusion. The participants obtained high scores from the hyperglycemia subscale of the diabetes symptom checklist and mental health subscale of the quality of life questionnaire. Diabetes symptoms were found to affect the quality of life of individuals with diabetes.

Context. Primary hyperparathyroidism (PHPT) is often associated with thyroid disorders like nodular goiter, Hashimoto’s thyroiditis (HT) and Graves’ disease. Objective. Our aim was to explore whether the coexistence with HT affects bone metabolism in patients with PHPT. Design. This was a comparative cross-sectional study carried out in a tertiary inpatient endocrine center from January 2018 through December 2020. Subjects and Methods. A total of 234 patients were diagnosed with PHPT at our endocrine center. One hundred of them were included in the study - 50 with PHPT only and 50 with PHPT and HT. Two control groups were defined: 37 with HT and 37 without PHPT and HT. Serum markers of calcium-phosphate metabolism, bone markers (RANKL, Osteoprotegerin, β-CTX, Osteocalcin) and interleukin-17A were measured. Results. The frequency of HT among patients with PHPT was 37.6% (95% CI 31-43%) and did not differ significantly from that in the general population, 32.5% (95% CI 30-35%). Age, BMI, markers of calciumphosphate metabolism, bone markers and interleukin-17A weren’t significantly different in PHPT with and without HT or between the two control groups. The participants with PHPT had higher levels of interleukin-17A, β-CTX and Osteocalcin (p<0.05) than those without the PHPT. RANKL and Osteoprotegerin in these groups did not differ. Interleukin-17A correlated positively with serum calcium, PTH and RANKL and negatively with serum inorganic phosphate and 25(OH)D. Controlling for HT and age did not change the correlation. Conclusions. In our study, HT has not additional effect on bone metabolism in the patients with PHPT. Higher levels of interleukin-17A in PHPT suggest a possible role in the PTH-induced bone remodeling.

Context. Thyrotropin-receptor antibodies (TRAb) are biomarkers of Graves’ disease (GD) and Graves’ orbitopathy (GO). Elevated immunoglobulin E (IgE) and antinuclear antibodies (ANA) were also found in GD patients. Objective. We aimed to assess TRAb, IgE and ANA in GD and GO patients and to evaluate the relationship between the immunological markers and smoking. Design. This was a comparative cross-sectional study carried out in a single tertiary care center from June 2018 to January 2020. Subjects and Methods. A total of 103 GD patients (mean age 51.2, 84 females) were divided into three subgroups: moderate-to-severe GO (n=36), mild GO (n=32) and “only GD” subgroup (n=35). Forty healthy controls (HC) (mean age 51.2, 36 females) were also included. TRAb were measured by a thyrotropin-binding inhibitory immunoglobulin (TBII) assay in GD patients; IgE and ANA - by an enzyme-linked immunosorbent assay in all subjects. Results. GD patients had higher IgE-positivity rate (p=0.04) and similar ANA-positivity compared to HC. Moderate-to-severe GO subgroup had the highest TBII (p<0.01), the lowest TBII-negativity rate (p<0.01) and the highest ANA-positivity rate (p=0.03) and was the only subgroup whose IgE-positivity rate was significantly higher than HC (25% vs. 7.5%). Mild GO and “only GD” patients had comparable TBII, TBII-negativity rate, IgE and ANA. Both GO subgroups had significantly higher smoking rate than “only GD” patients. Smoking was positively associated with IgE positivity (φ=0.22, p=0.03), and negatively with TBII negativity rate (φ=-0.24, p=0.02). Conclusions. GD patients exhibit different immunological patterns depending on the presence and severity of GO. Smoking might be just one of the factors responsible for the clinical and immunological variety of GD. Further studies are needed.