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Objective: Treatment adherence is crucial for the success of growth hormone (GH) therapy. Reported non-adherence rates in GH treatment have varied widely. Several factors may have an impact on adherence. Apart from these factors, the global impact of the Coronavirus disease-2019 (COVID-19) pandemic, including problems with hospital admission and routine follow-up of patients using GH treatment, may have additionally affected the adherence rate. The primary objective of this study was to investigate adherence to treatment in patients receiving GH. In addition, potential problems with GH treatment during the pandemic were investigated. Objective: Treatment adherence is crucial for the success of growth hormone (GH) therapy. Reported non-adherence rates in GH treatment have varied widely. Several factors may have an impact on adherence. Apart from these factors, the global impact of the Coronavirus disease-2019 (COVID-19) pandemic, including problems with hospital admission and routine follow-up of patients using GH treatment, may have additionally affected the adherence rate. The primary objective of this study was to investigate adherence to treatment in patients receiving GH. In addition, potential problems with GH treatment during the pandemic were investigated. [ABSTRACT FROM AUTHOR]

Objective: COVID-19 has become a global pandemic since March 2020. Vaccination is essential as there is no cure for COVID-19 infection yet. Vaccination is important for individuals with Type-1 DM because Type-1 Diabetes Mellitus (DM) is also considered among the medical conditions that can increase the risk of severe illness in children. One of the most important reasons for vaccine refusal in parents of children with chronic diseases is anxiety about developing side effects after vaccination. With this study, we aimed to detect the side effects of the vaccination in children with Type-1 DM who are vaccinated against COVID-19 by comparing them with children who do not have any chronic diseases. Material and Method: We compared the side effects of the vaccine in 34 children with type 1 DM who were vaccinated against COVID-19 and 34 children who were also vaccinated against COVID-19 without any chronic disease. The survey forms about the side effects that may occur after the COVID-19 vaccine, developed by the researcher in line with the literature, was filled out by the patient and/or their parents via the Google survey forms. Results: The most common local side effect was pain at the injection site with 88.20%, while swelling was 26.50%, and redness was 17.60%. There was no statistical difference between the groups in the rate of occurrence of local side effects (p >0.05). Conclusion: Our results show that post-COVID-19 vaccine side effects are generally local, mild and, prevalent, as well as systemic/severe reactions are rare. Side effects related to the COVID-19 vaccine in patients with type-1 DM were similar to the control group. Our study could be useful in reducing anxiety about vaccine-related side effects in this group of patients and their parents. [ABSTRACT FROM AUTHOR]

Objective: The aim was to analyze the incidence trend and annual average incidence change of type 1 diabetes (T1DM) in the population <18 years of age in Malatya province. Materials and Methods: Medical files of patients followed up with T1DM in pediatric endocrinology clinics were reviewed. The data for the child census was taken from the Turkish Statistical Institute (TUIK), and T1DM incidence was analyzed according to the calendar year, gender, and age groups. Recently diagnosed T1DM patients per 100 000 children per year were calculated. In addition, the trend in annual incidence change over the period 2007-2019 was analyzed. Results: The mean incidence of T1DM during the 13 years was 13.1/105 child years (13.8/105 child years for girls and 12.4/105 child years for boys). During the 13-year follow-up period, a significant increasing trend in the incidence of T1DM was detected. The average annual percent change (AAPC) was 8.3%. According to age groups, the average AAPC was 8.1% between 0 and 4 years old, 9.4% between 5 and 9 years old, 12.1% between 10 and 14 years old, and 30.1% between 15 and 17 years old. Conclusion: The incidence of T1DM in children under 18 years of age in Malatya, one of the largest cities in the Eastern Anatolia region of Turkey, was determined as 13.1/105 child years in the last 13 years and the average annual increase rate was 8.3%. [ABSTRACT FROM AUTHOR]

Variants of the melanocortin-4 receptor (MC4R) gene are the most common cause of monogenic obesity. It has been shown that, while obesity cannot be controlled with diet and exercise, glucagon-like-peptide-1 receptor agonists (GLP-1 RA) provide weight loss in the short term. In this paper, our experience with liraglutide treatment in an adolescent patient carrying a MC4R gene variant is presented. A female patient was admitted first at the age of 12.5 years with a complaint of progressive weight gain. She had marked excess of appetite since infancy. On physical examination of the pubertal female patient with a body mass index (BMI) of 36.1 kg/m2 (3.48 standard deviation score), there was no pathological finding except diffuse acanthosis nigricans. Laboratory examinations revealed only insulin resistance. Weight loss was not achieved with lifestyle changes, metformin and orlistat treatments. On genetic examination, a sporadic heterozygous c.206T>G(p.I69R) variant that had been reported previously, was found in MC4R gene. Treatment with the GLP-1 RA, liraglutide, was initiated and a 19.2% reduction was achieved in the body weight and BMI at the end of 32 weeks. However, the patient, whose treatment compliance was disrupted due to significant gastrointestinal complaints, returned to her former weight within a few months (13 weeks) after treatment was stopped. In this case with a known pathogenic variant in MC4R gene, decrease of appetite and weight loss were achieved with liraglutide treatment, but side-effects of this treatment led to discontinuation of therapy. In such cases, there is need for effective and tolerable treatment options. [ABSTRACT FROM AUTHOR]

Objective: With the diagnosis of chronic illness in children, a stressful period is likely to begin for both the affected child and their families. The aim of this study was to investigate the factors affecting chronic disease management by the parents of children diagnosed with type 1 diabetes mellitus (T1DM). Methods: The sample consisted of 110 children, aged between 4-17 years and their mothers. The patients had been diagnosed with T1DM for at least one year, and had attended pediatric endocrinology outpatients or were hospitalized in a single center. First, sociodemographic information about the child with T1DM were obtained. Then, the “Family Management Measure” (FaMM) was applied. The FaMM is constructed to measure family functioning and management in families who have a child with a chronic illness. Results: Paternal years of education (p=0.036), family income (p=0.008), insulin pump use (p=0.011), and time elapsed after diagnosis (p=0.048) positively affected both the management of T1DM and the child’s daily life. However, presence of chronic diseases in addition to T1DM (p=0.004) negatively affected diabetes management. Higher maternal education year (p=0.013) and family income level (p=0.001) increased parental mutuality scores. However, as the time after diagnosis increased, parental mutuality scores decreased. Conclusion: It is important to evaluate the child with chronic disease with a biopsychosocial approach. This approach aims to evaluate the problems of the child and his/her family who experience the disease with a holistic approach. [ABSTRACT FROM AUTHOR]

Objective: It has been reported that bone mineral density (BMD) is decreased in children with Celiac disease (CD) compared to their healthy peers. The aim of this study was to reveal possible risk factors for low BMD in Turkish children newly diagnosed with CD. Methods: Eighty-six patients (2-18 years old) with CD were included in this retrospective study. The relationship between their lumbar BMD z-scores calculated according to their chronological age (CA) and height age (HA) and their clinical, laboratory [biochemical parameters, tissue transglutaminase antibody-IgA (TTGA) levels, human leukocyte antigen (HLA) types] and histopathological parameters were evaluated. Results: The mean age of the patients at diagnosis was 8.06±4.08 years. The BMD z-score CA was =-2 standard deviation (SD) in 26.7% of the patients. The BMD z-score HA was =-2 SD in 12.8% of the patients. The BMD z-score HA only correlated with their age at diagnosis of CD (rs value 0.269). However, there was no statistically difference between the BMD z-score HA >-2 SD and =-2 SD subgroups regarding their clinical, laboratory and histopathological parameters. Conclusion: Low BMD is common in children with newly diagnosed CD. Age at diagnosis, gender, body size, Celiac symptoms, biochemical parameters, TTGA level, HLA type, and histopathological stage had no predictive values in terms of low BMD in this patient group. [ABSTRACT FROM AUTHOR]

An activating variant of the thyroid stimulating hormone receptor (TSHR) gene is one of the rare causes of neonatal hyperthyroidism. This disorder may occur as a result of an autosomal dominant inheritance or sporadically through de novo variation. Here we present a case of neonatal onset congenital non-autoimmune hyperthyroidism (NAH) with a sporadic germline activating TSHRV656F variant. A female infant with tachycardia, who was transferred due to hyperthyroidism in the first week of life, displayed no other symptoms or signs. The patient’s mother did not have Graves’ disease, and TSHR stimulating antibodies were not present in the mother or baby. Imaging showed thyroid gland hyperplasia and left ventricular hypertrophy, the patient was subsequently put on methimazole treatment. After six months undergoing treatment, a heterozygous p.Val656Phe (V656F) (c.1966G>T) variant was detected on exon 10 of the TSHR gene. The variant was not identified in the mother and father, so the case was assumed to be sporadic. In conclusion, although the literature describes V656F variant as a somatic variant in children and adults with toxic thyroid nodule(s) that results in the structural activation of the TSH receptor, no previous cases of neonatal hyperthyroidism due to TSHRV656F variant have been reported. This study is the first case review that highlights the relationship between TSHRV656F variant and neonatal onset NAH. [ABSTRACT FROM AUTHOR]

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Aim: To investigate hematological parameters in cases with non-obese premature adrenarche (PA) and to evaluate the correlations between this parameters and androgen levels Material and Method: The study was a case-control study and the files of the patients was analysed retrospectively. Forty-four children with PA aged 6-9 years and their age and sex matched healthy controls (n=45) were included for the study. Hematological parameters between groups were compared and the correlations between this parameters and androgen levels were evaluated. Results: The mean ages of the case (7.61±1) and control (7.42±0.9) groups were similar (p>0.05). When we compared between case and control groups, mean erythrocyte count (5.07±0.22, 4.87±0.31; p<0.05), hemoglobin (Hgb) levels (13.77±0.79, 12.89±0.84; p<0.05), mean corpuscular volume (81.83±3.73, 79.99±3.74; p<0.05) and red cell distribution wide (12.71±1.80, 13.56±0.66; p<0.05) were different. On the other hand, dehydroepiandrosterone sulfate level was positively correlated with Hgb levels (r=0.27; p=0.03). Conclusion: Higher Hgb and erythrocyte levels in cases with PA may be partially explained with increased early and accelerated function in the androgen biosynthetic steps in this patients. Larger comprehensive studies with an increased number of cases in each group are needed to explore the alterations. early and accelerated function in the androgen biosynthetic steps. [ABSTRACT FROM AUTHOR]

Peutz-Jeghers syndrome (PJS) is inherited as an autosomal dominant trait characterized by multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of neoplasm. Large-cell calcifying Sertoli cell tumor (LCCSCT) is a kind of sex cord-stromal tumor which may co-exist with PJS and which is characterized radiologically by calcification foci within the testes. Surgical treatment options for this tumor range from testis-preserving surgery to radical orchiectomy. Not with standing this invasive approach, recently, there are some case reports demonstrating the efficacy of aromatase inhibitors in avoiding orchiectomy and its associated complications. In this paper, we have presented a LCCSCT case diagnosed in a boy with PJS and his response to anastrozole treatment. [ABSTRACT FROM AUTHOR]

Aim: The aim of this study was to investigate the cardiovascular risk of children with premature adrenarche (PA). Methods: A total of 75 children (44 with PA and 31 control subjects) aged 6-10 years were included in the study. Their metabolic, anthropometric, and echocardiographic parameters were recorded and compared. Results: Triglyceride, DHEASO 4, and 17-hydroxyprogesterone levels were significantly higher in the PA group (p = 0.04, p = 0.002, and p = 0.01, respectively). The echocardiographic assessments revealed that the left ventricular end-diastolic diameter (LVEDD) (p < 0.001), left ventricle (LV) and right ventricle (RV) ejection times (p = 0.031 and p = 0.035, respectively), and LV and RV Tei index measurements (p = 0.033 and p = 0.006, respectively) were significantly higher in the PA group than in the control group, whereas the E/e' ratio of the mitral lateral annulus was significantly lower in the PA group (p = 0.006). Additionally, carotid intima-media thickness and epicardial adipose tissue measurements were significantly increased in the PA group compared to the control group (p < 0.001). Conclusion: Early atherosclerotic changes and subclinical impairment of cardiac function were observed in children with PA. It is possible that these children are on a course for early cardiovascular disease. [ABSTRACT FROM AUTHOR]

Background: Wolfram syndrome is an autosomal recessive disorder caused by mutations in the WFS1 gene. Clinical heterogeneity has been reported both within and between families with WFS1 mutations. Subjects: The first case was diagnosed with insulin-dependent diabetes mellitus with positive for pancreatic autoantibodies and had a ketoacidotic attack in the follow-up period. The second case presented initially with optic atrophy and was diagnosed with behavioral and psychiatric problems at an early age. The third case had early onset insulin-dependent diabetes with multiple anomalies and congenital hypothyroidism. Many of these features have not been reported previously in patients with Wolfram syndrome. In all three patients homozygous mutations in WFS1 were identified. Conclusion: Wolfram syndrome is a disease where the characteristic features may present at different times. A diagnosis of Wolfram syndrome should therefore be considered even in the absence of the full spectrum of clinical features. [ABSTRACT FROM AUTHOR]

An abstract of the article "Tamoxifen Treatment for Pubertal Gynecomastia in a Patient with Partial Androgen Insensitivity Syndrome," by Pinar Kocaay and colleagues is presented.