Clinical and Laboratory Characteristics of MODY (Maturity Onset Diabetes of Young) Cases, Genetic Mutation Spectrum and Phenotype-genotype Relationship.

Objective: Maturity-onset diabetes of the young (MODY) occurs due to mutations in genes involved in pancreatic beta cell function and insulin secretion, has heterogeneous clinical and laboratory features, and account for 1-5% of all diabetes cases. The prevalence and distribution of MODY subtypes vary between countries. The aim of this study was to evaluate the clinical and laboratory characteristics, mutation distribution, and phenotype-genotype relationship in a large case series of pediatric Turkish patients genetically diagnosed with MODY. Methods: MODY cases from 14 different pediatric endocrinology departments were included. Diagnosis, treatment, follow-up data, and results of genetic analysis were evaluated. Results: A total of 224 patients were included, of whom 101 (45%) were female, and the mean age at diagnosis was 9.4±4.1 years. Gene variant distribution was: 146 (65%) GCK; 43 (19%) HNF1A; 8 (3.6%) HNF4A, 8 (3.6%) KLF11 and 7 (3.1%) HNF1B. The remaining 12 variants were: PDX (n=1), NEUROD1 (n=3), CEL (n=1), INS (n=3), ABCC8 (n=3) and KJNC11 (n=1). Of the cases, 197 (87.9%) were diagnosed with incidental hyperglycemia, 16 with ketosis (7%) and 7 (3%) with diabetic ketoacidosis (DKA), while 30% presented with classical symptoms of diabetes. Two-hundred (89%) had a family history of diabetes. Anti-GAD antibody was detected in 13 cases, anti-islet antibody in eight and anti-insulin antibody in four. Obesity was present in 16. Distribution of therapy was: 158 (71%) diet only; 23 (11%) intensive insulin treatment; 17 (7.6%) sulfonylureas; 10 (4.5%) metformin; and 6 (2.7%) insulin and oral antidiabetic treatment. Conclusion: This was the largest genetically diagnosed series from Turkey. The most common gene variants were GCK and HNF1A with much lower proportions for other MODY types. Hyperglycemia was the most common presenting symptom while 11% of patients had diabetes-associated autoantibodies and 7% were obese. The majority of patients received dietary management only.

Evaluation of night eating syndrome and food addiction in esports players.

PURPOSE: Esports players' training takes long periods and they sit for a long time during competitions, which increases their risk of obesity and urges them to develop inappropriate eating behaviors. In this study, we aimed to investigate the night-eating syndrome and food addiction in esports players. METHODS: This cross-sectional study was conducted with 248 esports players who were members of a university's esports community. The study data were collected using an online questionnaire consisting of the descriptive information form, Night Eating Questionnaire, and Yale Food Addiction Scale. RESULTS: The mean age of the sports players participating in the study was 22.19 ± 5.97 years. Of them, 55.6% had a normal body weight, 13.4% were obese, 54.4% played esports for 3 years or more, 13.3% experienced night eating syndrome, and 21.4% experienced food addiction. While the weekly duration of playing esports and skipping meals were associated with night eating syndrome, the weekly duration of playing esports and smoking were associated with food addiction (p < 0.05). Additionally, although there was no statistically significant difference, the risk of food addiction was 2.12 times higher in those with poor perceived sleep quality. CONCLUSION: We observed that night eating syndrome was very common in esports players and that these individuals were at risk in terms of food addiction. Since esports has a more sedentary structure than traditional sports, we suggest that esports players should be evaluated in terms of their unhealthy eating behaviors and risk of eating disorders.

Effect of Adrenocorticotropic Hormone Stimulation on Ischemiamodified Albumin Levels in vivo

Objective: Ischemia-modified albumin (IMA) formation is associated with increased reactive oxygen species (ROS) production, while increased cortisol leads to decreased ROS levels. We aimed to evaluate the effect of adrenocorticotropic hormone (ACTH) stimulation on IMA levels and whether the effect was dose-dependent or not. Methods: A total of 99 subjects with normal ACTH test results were included in the study. Of these, 80 had standard-dose ACTH test while 19 had low-dose ACTH test. Blood samples were collected to determine cortisol and IMA levels; at minutes 0, 30, and 60 following the standard-dose ACTH test and at minutes 0 and 30 following the low-dose ACTH test. Results: IMA levels decreased significantly within 30 minutes and the decrease continued up to the sixtieth minute (p=0.002) after standard-dose ACTH stimulation. After ACTH stimulation, a weak negative correlation was found between peak cortisol and IMA levels at the thirtieth minute (r=0.233, p=0.02). There was no significant difference in IMA levels after low-dose ACTH stimulation, despite an increase in cortisol (p=0.161). Conclusion: IMA levels decreased rapidly after standard-dose ACTH stimulation, while a decrease in IMA levels was not observed after low-dose ACTH stimulation. The lack of decrease in IMA levels after low-dose ACTH stimulation suggests a possible dose-dependent relationship between ACTH and IMA. The moderate increase in cortisol with no reduction in IMA levels after low-dose ACTH stimulation and the weak correlation between peak cortisol and 30-minute IMA levels after standard-dose ACTH stimulation suggest that ACTH may have a direct effect on IMA.

Is food insecurity related to sustainable and healthy eating behaviors?

In this cross-sectional study, it was aimed to investigate the relationship between sustainable and healthy eating behaviors such as nutritional insecurity and a healthy and balanced diet, interest in regional and organic food products, consumption of seasonal food and avoidance of food waste, preference for locally produced foods, reduction of meat consumption, preference for eggs from free-range chickens, and sustainable fishery products, and consumption of low-fat food products in adults. The study included 410 adults who were reached through social media applications. Data were collected through an online questionnaire including the Descriptive Information Form, the Household Food Insecurity Access Scale (HFIAS), and the Sustainable Healthy Eating Behaviors Scale (SHEBS). The proportion of participants determined as mildly food insecure, moderately food insecure, and severely food insecure was 10.2%, 6.6%, and 7.6%, respectively. Linear regression analysis revealed that in Models 1, 2, and 3, there was a statistically significant negative association between food insecurity and the components of sustainable and healthy eating behaviors such as healthy and balanced diet (ß - 0.226, p < 0.001), quality labels (ß - 0.230, p < 0.001), seasonal foods, which are of avoidance of food waste (ß - 0.261, p < 0.001), animal welfare (ß - 0.174, p < 0.001), and fat intake (ß - 0.181, p < 0.001). In conclusion, food insecurity negatively affects healthy and balanced diet behaviors, interest in regional and organic food products, seasonal food products consumption and avoidance of food waste, consumption of low-fat food products, and the choice of products such as free-range chicken eggs, and sustainable fisheries.

Assessment of the Retinal Nerve Fibre Layer, Retina, and Choroid in Osteogenesis Imperfecta.

BACKGROUND: Osteogenesis imperfecta (OI) is a genetic disorder in which there are problems in tissues containing type I collagen, predominantly the cornea and sclera in the eye. Although there are many studies on problems with the anterior segment of the eye in patients with OI, studies on posterior structures are limited. Involvement of the sclera may affect the retinal nerve fibre layer (RNFL), which is indirectly related to intraocular pressure. In addition, the retina and choroid containing type I collagen may be affected. The aim of the study was to compare the posterior segment structures of the eye, including the RNFL, retina, and choroid, in patients with OI to those of healthy control subjects. METHODS: This cross-sectional study recruited 19 patients with OI, as well as 22 age- and gender-similar healthy control subjects. Measurements of the RNFL, retina, and choroid were obtained with optical coherence tomography (Spectralis SD-OCT, Heidelberg Engineering, Heidelberg, Germany). RESULTS: Patients with OI (mean age 14.32 ± 5.08 years) and the control group (mean age 13.73 ± 3.56 years) had similar age, refractive error, and intraocular pressure values (p > 0.05). There was no difference between groups in terms of RNFL thickness, including the superonasal, nasal, inferonasal, inferotemporal, temporal, and superotemporal sectors, retinal thickness, and choroidal thickness from five different locations (p > 0.05, for all). CONCLUSION: According to these results, OI does not clinically affect the RNFL, retina, and choroid in childhood.

Unfavorable Effects of Low-carbonhydrate Diet in a Pediatric Patient with Type 1 Diabetes Mellitus

A balanced and healthy diet is very important in type 1 diabetes mellitus (T1DM) in childhood. In addition to regulating blood glucose with diet, diet should also support optimal growth. Low-carbohydrate diet aims to provide daily energy from fats and was originally used for childhood epilepsy. We present a patient with T1DM who experienced unfavorable effects when on a low-carbohydrate diet.

Dietary acid load and cardiovascular diseases.

Diet affects the body's acid-base balance by providing acid or alkali precursors in the metabolism. The importance of the acid-base balance of the diet for cardiovascular diseases, which have become the most important cause of morbidity on the global scale, has started to take its place in the literature. The prediction of endogenous acid production in dietary acid-base balance is expressed as dietary acid load. Although the available information about the effect of dietary acid load on cardiovascular diseases is limited, possible mechanisms are indicated as excessive calcium and magnesium excretion from the kidneys, reduced urinary citrate excretion, and excessive cortisol production. Metabolic acidosis has an important role in the development of cardiometabolic abnormalities, especially insulin resistance. Studies examining the relationship between dietary acid load and cardiovascular disease are limited and there is an inconsistency between studies. Practices for determining risk factors for cardiovascular diseases and preventing their effects are very important for the protection and improvement of health. Considering dietary acid load when planning a diet for individuals with cardiovascular diseases can help increase the effectiveness of the diet. The purpose of this review is to examine the effect of dietary acid load on cardiovascular diseases.

Relationship between food insecurity and geriatric syndromes in older adults: A multicenter study in Turkey.

AIMS: In this study, the aim was to determine the prevalence of geriatric syndromes such as frailty, sarcopenia risk and malnutrition in older adults and to investigate the relationship between food insecurity, and frailty, risk of sarcopenia and malnutrition. METHODS: The study was cross-sectional. It was conducted between February 2022 and June 2022 with 707 older adults. The data were collected through the face-to-face interview method with a questionnaire including the Descriptive Information Form, Household Food Insecurity Access Scale (HFIAS), Frail Scale, Sarcopenia Risk Screening Scale (SARC-F) and Mini Nutritional Assessment-Short Form (MNA-SF). Numbers, percentages, mean, standard deviation, Pearson chi-square test and binary logistic regression analysis were used in data analysis. RESULTS: In the present sample, 30% of the participants experienced some degree of food insecurity. The prevalence of frailty, sarcopenia risk, and malnutrition in the participants was 15.3%, 19.5%, and 1.3%, respectively. We determined that food insecurity was not associated with pre-frailty/frailty and sarcopenia risk. After adjusment for potential counfounders moderate and severe food insecurity was associated with higher odds of malnutrition risk and malnutrition (AOR: 2.06, 95% CI: 1.21-3.51, p:0.007). CONCLUSION: While food insecurity is not associated with pre-frailty/frailty and sarcopenia risk, moderate and severe food insecurity is a modifiable risk factor for malnutrition risk and malnutrition. Thus, economic and social policies to eliminate food insecurity should be implemented, and efforts to prevent food insecurity should be planned through inter-sectoral cooperation.

The relationship between food and cooking skills, and eating behaviors in people with overweight or obesity.

BACKGROUND: In the present study, the authors aimed to determine food skills and cooking skills, and eating behaviors, and to evaluate the relationship between food skills and cooking skills, and eating behaviors in people with overweight or obesity. METHODS: This cross-sectional study was conducted with 185 people with overweight or obesity. The researchers collected the study data using the face-to-face interview method through a questionnaire including the Descriptive Information Form, Cooking Skills and Food Skills Scale, and Three-Factor Eating Questionnaire-R21. Numbers, percentages, arithmetic mean, standard deviation, Student's t-test, Pearson Chi-Square test, and multiple linear regression analysis were used in the analysis of the data. RESULTS: The mean scores of the individuals obtained from the overall Cooking Skills and Food Skills Scale, and cooking skills, food skills, uncontrolled eating, cognitive restraint, and emotional eating sub-dimensions were 148.17 ± 52.20, 70.45 ± 27.48, 77.84 ± 28.90, 43.90 ± 22.74, 36.95 ± 23.93, and 38.94 ± 29.17 respectively. Multiple linear regression was fitted to determine the association between food skills and cooking skills and eating behaviors while adjusting for sociodemographic and health-related characteristics. Food skills and cooking skills were positively associated with uncontrolled eating (ß = 0.213, p = 0.030), cognitive restraint (ß = 0.245, p = 0.009), and emotional eating behaviors (ß = 0.338, p = 0.001). CONCLUSION: In people with overweight or obesity, cognitive restraint and emotional eating behaviors improve as their food preparation and cooking skills improve. Therefore, education and public health practices on eating awareness, food skills, and cooking skills can play an important role in bringing healthy behavior change into practice in society.

Status of Central Precocious Puberty Cases at the Onset of Coronavirus Disease 2019 Pandemic: A Single-Center Experience.

OBJECTIVE: The onset of puberty in children is occurring at an increasingly earlier ages. During the coronavirus 2019 pandemic, children experienced epidemic-related changes such as stress, sedentary lifestyle, and weight gain. MATERIALS AND METHODS: Auxological, clinical, endocrinological, and radiological data in the files of 57 patients who were given gonadotropin-releasing hormone analog therapy with the diagnosis of central precocious puberty between April 1 and July 1, 2019 (group 1) and April 1 and July 1, 2020 (group 2) were analyzed retrospectively. RESULTS: A total of 27 patients (26 girls, 1 boy) in group 1 and 30 patients (28 girls, 2 boys) in group 2 were diagnosed with central precocious puberty. Mean ages at diagnosis for groups 1 and 2 were 28.54 ± 0.94 and 7.92 ± 0.96 years, respectively (P = .018). Mean bone age at diagnosis for group 1 was 9.78 ± 1.48 (6.8-12), and for group 2 it was 8.78 ± 1.11 (6.5-12) years (P = .013). The mean age of starting treatment in groups 1 and 2 was 8.94 ± 0.17 (6.8-9.8) and 8.07 ± 0.02 (5.8-10) years, respectively (P = .002). Average birth weights for groups 1 and 2 were 950 ± 1100 (2300-3400) and 3180 ± 717 (870-3820) g, respectively (P = .012). Treatment was started when breast stage was T3 in 57.69% of group 1 and T2 in 75% of group 2, and a statistical difference was found between them (P = .006) and uterine length was higher in group 2 (P = .144). CONCLUSION: During the coronavirus 2019 pandemic, patients who start central precocious puberty therapy were of younger age. In our single-center experience, coronavirus 2019 was not seen to have a significant impact on central precocious puberty.

Validity of the Graz Malnutrition Screening as an indicator of malnutrition in hospitalized patients.

BACKGROUND: Hospital malnutrition is an important health problem for developed and developing countries, and screening tools are recommended in practice because they can be obtained quickly and easily to identify the risk of malnutrition. This study aimed to validate the use of the Graz Malnutrition Screening (GMS) in combination with different methods of nutrition assessment in the identification of malnutrition risk in hospitalized adult and older patients. METHODS: The study was performed with a total of 348 adult (64.4%) and older (35.6%) patients treated in the internal and surgical clinical units of Ankara Gazi Hospital between May and July 2019. A questionnaire including general information, anthropometric measurements, and biochemical parameters was applied. The Nutritional Risk Screening-2002 (NRS-2002), Short Nutritional Assessment Questionnaire (SNAQ), and GMS were applied, and results were evaluated by comparison. RESULTS: The mean age of the patients was 57.0 years, and the mean hospital length of stay (LOS) was 7.9 days. According to GMS, malnutrition risk was found in 47.7% of the patients. When NRS-2002 was taken as a reference, the sensitivity and specificity of GMS were calculated as 95.16% and 78.57%, respectively, and Cohen's kappa coefficient was 0.686. When SNAQ was taken as a reference, the sensitivity and specificity of GMS were calculated as 91.59% and 75.11%, respectively, and Cohen's kappa coefficient was 0.609. CONCLUSION: GMS can be used as a valid screening tool to identify malnutrition risk in both adult and older patients in the different hospital departments in Turkey.

A major health problem facing immigrant children: nutritional rickets.

OBJECTIVES: Nutritional rickets (NR) is still an important problem and one which increasing influxes of immigrants are further exacerbating. This study evaluated cases of mostly immigrant children followed up with diagnoses of NR in our pediatric endocrinology clinic. METHODS: Details of 20 cases diagnosed with NR between 2017 and 2020 were retrieved from file records. RESULTS: Twenty (11 male) cases were included in the study. Three (15%) were Turkish nationals and the others (85%) were immigrants. Hypocalcemia and hypophosphatemia were detected in 17 and 13, respectively. Alkaline phosphatase (ALP) values were normal in two cases, while ALP and parathyroid hormone (PTH) values were elevated in all other cases, and PTH levels were very high (473.64 ± 197.05 pg/mL). 25-hydroxyvitamin D levels were below 20 ng/mL in all cases. Patients with NR received high-dose long-term vitamin D or stoss therapy. Six patients failed to attend long-term follow-up, while PTH and ALP levels and clinical findings improved at long-term follow-up in the other 14 cases. CONCLUSIONS: The elevated PTH levels suggest only the most severe cases of NR presented to our clinic. Clinically evident NR is therefore only the tip of the iceberg, and the true burden of subclinical rickets and osteomalacia remains unidentified. Public health policies should therefore focus on universal vitamin D supplementation and adequate dietary calcium provision, their integration into child surveillance programs, adequate advice and support to ensure normal nutrition, exposure to sunlight, and informing families of the increased risk not only for resident populations but also for refugee and immigrant children.

Evaluation of hydration status during the COVID-19 pandemic: a study of Turkish young adults.

Adequate hydration is an essential component of health at every stage of life. Although many factors such as age, gender, physical activity, drug use, and illness affect hydration status, it is vital to maintain water balance, especially in infectious diseases. This study was conducted to estimate the hydration status of young adults living in Turkey during the COVID-19 pandemic. The total water intake (TWI) and total water loss of the individuals were determined using the Water Balance Questionnaire (WBQ), which consists of questions about physical activity status, frequency of food and beverage consumption, water consumption, and water loss with urine and feces. The TWI of men and women was found to be 4,776.1 and 4,777.3 mL/day, respectively (p > 0.05). It was determined that 29% of the total water was obtained from drinking water, 49% from other beverages, and 22% from food. A positive net water balance was found in all body mass index (BMI) groups, men, and women. The net water balance was statistically lower in men (2,230.6 mL) than women (2,783.8 mL) (p < 0.05). As the COVID-19 pandemic continues, studies should be done on hydration status in the more balanced populations in terms of BMI and age groups.

The effect of GnRH stimulation on AMH regulation in central precocious puberty and isolated premature thelarche.

OBJECTIVES: There is a complex interaction between the anti-müllerian hormone (AMH) and hypothalamic-pituitary-gonadal axis. However, the effect of gonadotropin-releasing hormone (GnRH) stimulation on AMH levels is not clearly known. In the study, we aimed to evaluate the effect of GnRH stimulation on AMH levels in central precocious puberty (CPP) and isolated premature thelarche (PT) groups. METHODS: Sixty-three girls with breast development before the age of 8 were enrolled in the study. GnRH test was performed on all subjects. Blood samples for follicle-stimulating hormone (FSH), luteinizing hormone (LH), and AMH levels were taken at basal, 40th, and 90th minute of GnRH test. Subjects were grouped as CPP and PT group. RESULTS: After GnRH stimulation, AMH levels increased significantly at the 40th minute and the stimulating effect of GnRH on AMH continued till the 90th minute (p: 0.0001). There was a positive correlation between basal and 90th-minute AMH levels (r: 479, p: 0.0001). The highest FSH, LH, and AMH times were significantly different after the GnRH stimulation (p: 0.001, p: 0.001, and p: 0.007). Although the CPP group had a lower basal AMH level than the PT group's basal AMH level; AMH response to GnRH stimulation was not different (p>0.05). CONCLUSIONS: In our study, which examined the effect of GnRH stimulation on AMH levels in early pubertal development disorders for the first time, GnRH stimulated AMH secretion rapidly, correlated with basal AMH. Basal AMH levels were lower in patients with CPP than in those with PT; however, the effect of GnRH stimulation on AMH levels was similar in both groups.

Anterior Segment Findings in Patients With Osteogenesis Imperfecta: A Case-Control Study.

PURPOSE: To evaluate the anterior segment parameters in patients with osteogenesis imperfecta (OI) compared with healthy control subjects. METHODS: Seventeen patients with OI and 19 age-matched healthy controls were included into this cross-sectional case-control study. Corneal topographic, topometric and Belin-Ambrósio Enhanced Ectasia Display III analysis, corneal densitometry (12-mm corneal diameter), and lens densitometry measurements were obtained by using the Pentacam HR-Scheimpflug imaging system (Oculus, Wetzlar, Germany). The corneal endothelial cell properties were determined by specular microscopy. RESULTS: In comparison to the control group, patients with OI had significantly higher front astigmatism (0.8 ± 0.4 vs. 1.4 ± 1.1 mm, P = 0.026), thinner thinnest corneal thickness (556.4 ± 32.7 µm vs. 482.5 ± 66.9 µm, P = 0.002), smaller corneal volume (62.4 ± 3.5 mm vs. 53.7 ± 6.4 mm, P < 0.001), lower anterior chamber depth (3.2 ± 0.3 mm vs. 3.0 ± 0.2 mm, P = 0.009), higher index of vertical asymmetry (0.1 ± 0.04 vs. 0.2 ± 0.11, P < 0.001), higher posterior elevation (6.0 ± 2.7 µm vs. 11.9 ± 7.8 µm, P = 0.002), lower maximum Ambrósio relational thickness indice (456.6 ± 67.5 vs. 365.6 ± 115.7, P = 0.009), and higher final "D" value (0.7 ± 0.4 vs. 2.0 ± 1.6, P = 0.002). The corneal and lens densitometry values were similar in all concentric zones and layers in both groups except that 6 to 10 mm in the center. Corneal densitometry was higher in eyes with OI than that in the control group (9.8 ± 1.7 and 8.8 ± 1.0, P = 0.010). There was no difference in endothelial cell morphology between the groups (P > 0.05). CONCLUSIONS: The morphologic parameters determined on the corneal analysis are in general agreement with the known pathophysiology of OI. Corneal analysis may prove useful in monitoring patients with OI in clinical practice.

Early Ophthalmic Artery Blood Flow Parameter Changes in Patients with Type 1 Diabetes Mellitus.

OBJECTIVES: The aim of this study was to assess initial changes in blood flow parameters of the ophthalmic artery (OA) in pediatric patients with type 1 diabetes mellitus (DM). METHODS: Sixty-three subjects were included in this prospective, cross-sectional, observational study. Thirty-one (49.2%) patients with type 1 DM without diabetic retinopathy formed the DM group. The control group comprised 32 (50.8%) healthy subjects. The OA of all of the patients was examined with Doppler ultrasonography. The main outcomes were peak systolic velocity (PSV), end diastolic velocity (EDV), pulsatility index (PI), and resistivity index (RI) measurements. RESULTS: The mean age at onset of type 1 DM was 10.7±2.0 years and the mean duration was 11.4±11.0 months. The mean PSV and EDV outcomes in both eyes were significantly higher in the control group than in the DM group, whereas, the mean PI and RI outcomes in both eyes were significantly higher in the DM group (p<0.05). A mean RI of ≥0.75 indicated vascular hemodynamic changes associated with type 1 DM with a sensitivity of 72% and a specificity of 65% (area under the curve: 0.702; p=0.007). A mean PI of ≥1.69 predicted vascular hemodynamic changes associated with type 1 DM with a sensitivity of 79% and a specificity of 71% (area under the curve: 0.742; p=0.001). CONCLUSION: The results of this study revealed that disturbances in ocular hemodynamics might be present as early as the first year after a type 1 DM diagnosis. Changes in ocular hemodynamic parameters could be used to predict or screen for the development of vascular changes.

The alteration of IGF-1 levels and relationship between IGF-1 levels and growth velocity during GnRH analogue therapy.

Background Some studies have examined the effect of gonadal suppression on insulin-like growth factor-1 (IGF-1) levels and the growth velocity (GV) with conflicting results. Methods Forty-four girls treated with gonadotropin-releasing hormone analogue (GnRHa) for central precocious puberty (CPP) were included in the study. IGF-1 levels were examined at the beginning and after 12 months of treatment. Results IGF-1 and IGF-1 standard deviation score (SDS) according to chronological age (CA-IGF-1 SDS) at diagnosis were positively correlated with chronological age (CA), anthropometric measurements, stage of puberty, bone age (BA), BA-CA, follicle-stimulating hormone (FSH), luteinising hormone (LH), oestradiol, uterus length, endometrium thickness and ovarian volume (OV) at diagnosis (p < 0.05). There was no significant difference in IGF-1 levels after treatment. However, there was a negative correlation between ΔIGF-1 SDS and IGF-1 level, CA-IGF-1 SDS and BA-IGF-1 SDS at diagnosis (p < 0.05). There was no correlation between GV and IGF-1, ΔIGF-1. GV was negatively correlated with basal LH level at diagnosis (p = 0.008, r = -0.397). Peak LH levels of the patients who had GV-SDS < 0 were more suppressive than those of the patients who had GV-SDS > 0 after 12 months of treatment. Conclusions It was determined that the IGF-1 level and CA-IGF-1 SDS at baseline were correlated with more advanced pubertal stage prior to treatment. Initiation of treatment with a relatively high level of IGF-1 increased the risk of a decrease in the IGF-1 level. Likewise, the initiation of treatment with a relatively high LH level may increase the risk of low GV, but low GV was not related to the IGF-1 level. Increased sex steroid suppression may increase the risk of low GV.

Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation.

Background Vitamin D resistant rickets (HVDRR), is a rare autosomal recessive disorder caused by vitamin D receptor (VDR) gene mutations. There is no standard treatment in HVDRR. Case report The patient was a 3-year-old girl presenting with short stature, genu varum deformity, waddling gait and alopecia. She had hypocalcemia, hypophosphatemia, hyperparathyroidism and normal 1.25-(OH)2D levels. The patient was initially treated with calcitriol and high-dose oral calcium (Ca) for 22 months. The patient was treated with continuous high dose intravenous (i.v.) Ca therapy for 4 months, following initial lack of response to oral Ca and calsitriol. At the end of the 4 months, rickets was dramatically improved and did not recur for 3 years after i.v. Ca therapy. DNA sequence analyses of the VDR gene showed a homozygous novel mutation. Conclusions We identified a novel VDR gene mutation, and we concluded that i.v. Ca therapy from the central catheter is a safe treatment in HVDRR.

Antimüllerian Hormone Levels of Infants with Premature Thelarche

Objective: Antimüllerian hormone (AMH) concentrations in mini puberty are higher than those reported for the prepubertal period. In this study we investigated AMH concentrations in infants with premature thelarche (PT). A healthy control group was used for comparison. Methods: Forty five female infants with PT, aged between one and three years and a control group consisting of 37 healthy girls in the same age range were included in the study. Bone age, pelvic ultrasonography, and concentrations of luteinizing hormone, follicle-stimulating hormone (FSH), estradiol and AMH of the patient group were evaluated. Only serum AMH concentration of the control group was evaluated. Results: Median (range) serum AMH concentrations in the subjects were 1.66 ng/mL (11.85 pmol/L) [0.15-6.32 ng/mL (1.07-45.12 pmol/L)] and were significantly lower (p=0.025) than for the control group; 1.96 ng/mL (13.99 pmol/L) [0.60-8.49 ng/mL (4.28-60.64 pmol/L)]. AMH and FSH were negatively correlated (r=-0.360, p=0.015) in infants with PT. There was no correlation between AMH and uterine size, uterine volume, endometrial thickness, fundocervical ratio, ovarian size or volume, follicle size and follicle number. Conclusion: This is the first study that investigates AMH concentrations in infants with PT. The low AMH levels in these infants and the negative correlation between AMH and FSH suggests that AMH may play a role in suppressing pubertal findings during infancy and that decreased AMH may cause PT in infancy.

How does thiol/disulfide homeostasis change in children with type 1 diabetes mellitus?

AIMS: An increase in reactive oxygen species leads to formation of covalent bonds between sulfur atoms, thus thiol/disulfide homeostasis shifts towards the disulfide direction and oxidative damage occurs. We aimed to determine thiol/disulfide homeostasis in children with T1DM. METHODS: Thiol/disulfide homeostasis was evaluated in 30 patients with T1DM and 30 age, gender matched healthy controls. Thiol/disulfide homeostasis parameters were measured using a novel automated measurement method and correlation between demographic data and parameters was measured. RESULTS: There weren't any significant differences in age or gender between the T1DM and control groups. T1DM group, findings were as follows: native thiol: 388.3 ±â€¯76.7 µmol/L, total thiol: 426.2 ±â€¯87 µmol/L, disulfide: 18.9 ±â€¯7 µmol/L, control group findings were as follows: native thiol: 423.1 ±â€¯45.2 µmol/L, total thiol: 455.7 ±â€¯49.9 µmol/L, disulfide: 16.2 ±â€¯5.6 µmol/L. The disulfide/native thiol and disulfide/total thiol ratios were significantly higher in the T1DM group (p = 0.005 and p = 0.004, respectively), whereas the native thiol level and the native thiol/total thiol ratio were significantly lower in the T1DM group than in the control group (p = 0.036 and p = 0.015, respectively). There wasn't significant correlation between demographic data and thiol/disulfide homeostasis parameters. DISCUSSION: This study shows that dynamic thiol/disulfide homeostasis in children with T1DM shifts towards the disulfide direction. We think that this shift is caused by oxidative damage in ß-cells. Additional research on thiol/disulfide homeostasis in children with T1DM might provide techniques for early detection of oxidative damage in ß-cells.