Sleep disturbances in children and adolescents with type 1 diabetes mellitus: Prevalence, and relationship with diabetes management.

OBJECTIVE: A decline in sleep quality and regularity has been reported in patients with type 1 diabetes mellitus (T1D) in many studies. However, research on medical-based sleep disorders in patients with T1D is limited. Diagnosing sleep disorders is crucial, as it negatively impacts academic performance, cardiovascular health, and cognitive functions among children as well as essential skills for effective diabetes management. Our objective was to assess sleep disturbances in patients diagnosed with T1D and explore whether these patients experience significantly more sleep disturbances compared to their healthy peers. METHODS: This study, designed as a cross-sectional case-control investigation, involved a cohort of 250 participants (144 T1D, 106 control cases) aged 6-15 years. The Sleep Disturbance Scale for Children (SDCS) scores of the T1D group were compared with those of the control group. Furthermore, the study explored the correlation between clinical/biochemical parameters and SDCS scores within the T1D group. RESULTS: The mean age of individuals in the T1D group was 10.27 ± 3.25 years, while the control group had a comparable mean age of 10.48 ± 3.5 years (P = 0.303). Within the T1D group, the median duration of diabetes was 5 (1-15) years, and the median glycosylated hemoglobin A1c (HbA1c) level for the past one year was 8.4 %. Although there was no significant difference in total SDSC scores between the T1D and control groups, both groups exhibited average scores that remained close to the threshold indicative of sleep disturbances (>39). Notably, individuals with total SDSC scores surpassing 39 were identified at rates of 48.6 % in the T1D group and 47.6 % in the control group, respectively. Furthermore, disorders of arousal nightmares (DA) were more prevalent in T1D patients compared to their healthy peers (P = 0.049). Additionally, HbA1c showed a positive correlation with scores for disorders of excessive somnolence (DOES) and total scores (P < 0.001, R = 0.368; P = 0.003, R = 0.243). CONCLUSION: Our study found that the prevalence of sleep disturbances among children and adolescents with T1D was not significantly higher than that observed in their healthy peers. Nevertheless, it is crucial to note that a notable portion, 48.6 % of T1D cases and 47.6 % of healthy cases, displayed sleep disturbances based on SDSC scores. To optimize diabetes management and proactively address potential challenges, incorporating routine screening for sleep disturbances in the monitoring of T1D patients can yield valuable benefits.

Evaluation of the growth response of children with growth hormone deficiency according to the peak growth hormone levels in provocation tests.

BACKGROUND: We aimed to evaluate the relation between the peak growth hormone (GH) levels in provocation tests and response to recombinant human GH (rhGH) therapy in patients with GH deficiency (GHD). METHODS: This was a cross-sectional, single-center, and retrospective study. A total of 135 patients under the age of 16 years who were diagnosed with GHD through insulin tolerance tests and L-DOPA stimulation tests and who received rhGH therapy for at least 2 years in the Pediatric Endocrinology Clinic of Akdeniz University Hospital between 1997 and 2021 were included in the study. RESULTS: The patients were divided into two groups: idiopathic GHD (group I, n = 119) and multiple pituitary hormone deficiencies or organic pathology on magnetic resonance imaging (group II, n = 16). The patients in group I were classified into three subgroups according to the peak GH values in the provocation tests (group Ia: peak GH <3 µg/L, n = 34; group Ib: peak GH between 3 and 7 µg/L, n = 71; group Ic: peak GH between 7 and 10 µg/L, n = 34). The median age was 11.5 years in group I (8.8 in group Ia, 12.1 in group Ib, 12.3 in group Ib) and 8.8 years in group II. The height standard deviation score (SDS) was -2.93 in group I (-2.85 in group Ia, -2.99 in group Ib, -2.94 in group Ic) and -3.79 in group II. The median Δheight SDS was 0.61 in group I and 1.05 in group II at the end of the first year of treatment and 0.31 in group I and 0.45 in group II at the end of the second year (p = 0.005 and p = 0.074, respectively). When the subgroups of group I were compared, height SDS, Δheight SDS, and height velocity (HV) SDS were all higher in group Ia at the end of the first year of rhGH therapy (p = 0.040, p = 0.029, and p = 0.005, respectively). The height SDS was still significantly higher in group Ia (p = 0.033) while the HV SDS and Δheight SDS were similar between the groups at the end of the second year of therapy (p = 0.164 and p = 0.522, respectively). There was a statistically significant association between the first-year HV SDS and the peak GH value in provocation tests in multiple regression analyses (p<0.001). In addition, the final model revealed that height SDS and weight SDS at the start of the treatment and the first-year HV SDS are the factors with a statistically significant effect on the second-year HV SDS (p = 0.022, p = 0.001, and p<0.001, respectively). CONCLUSION: Our findings show that the lower the GH peak in provocation tests, the better the response to treatment. The best HV was observed in the first year of rhGH therapy, and the diagnosis should be checked in those patients who had a low first-year HV and did not have a severely low GH peak in provocation tests.

Psychiatric Disorders and Peer-Victimization in Children and Adolescents With Growth Hormone Deficiency.

In this study, we aimed to investigate psychiatric disorders, bullying/victimization, and quality of life in children and adolescents with idiopathic growth hormone deficiency (GHD). Sixty-one children and adolescents who were diagnosed as having idiopathic GHD were evaluated using a semistructured interview by a child and adolescent psychiatrist. Some 45.9% of the subjects with GHD were diagnosed with at least 1 psychiatric disorder. The most common psychiatric diagnosis was social anxiety disorder (18.3%). Twenty-eight percent of the subjects reported being bullied by their peers. Victimization rates were less frequent in those treated for more than 1 year. Children aged between 6 and 12 years had poorer quality of life and higher anxiety levels than adolescents aged between 13 and 18 years. Due to the higher rates of existing psychiatric disorders, the clinical management of patients with GHD should be conducted with a multidisciplinary approach, in which pediatric endocrinologists and mental health professionals work in coordination.

Hyperandrogenism correlates with psychological symptoms in adolescents with polycystic ovary syndrome.

This study aimed to analyze the depressive and anxiety states of adolescent girls with polycystic ovary syndrome (PCOS). This was a cross-sectional, multicenter, case-control study. A total of 100 participants (PCOS group, 51; control group, 49) aged 13-18 yr were included in the study. Body mass index was higher in patients with PCOS (P = 0.002). In the PCOS group, 28.5% of the patients had moderate-to-severe depressive symptoms, whereas the incidence was lower in controls (8.3%, P = 0.021). The State-Trait Anxiety Inventory (STAI)-State, STAI-Trait, and physical, psychosocial, and total Pediatric Quality of Life Inventory PedsQL scores were higher in the PCOS group, suggesting that anxiety was more common and the quality of life was worse in patients with PCOS than in healthy participants (P = 0.01, P = 0.03, P = 0.02, P = 0.046, and P = 0.047, respectively). The serum free testosterone (fT) levels were positively correlated with the depression and anxiety scores and negatively correlated with the psychosocial PedsQL scores. In conclusion, adolescent girls diagnosed with PCOS demonstrated higher depressive and anxiety symptoms and lower psychosocial quality of life scores than their healthy counterparts. A relationship was found between the fT level and all psychological measures.

The Examination of the Relationship Between COVID-19 and New-Onset Type 1 Diabetes Mellitus in Children.

OBJECTIVE: This study aimed to evaluate presentations of new-onset type 1 diabetes mellitus in a pediatric cohort during the coronavirus disease 2019 pandemic. MATERIALS AND METHODS: This study was designed as a single-center, descriptive, cross-sectional retrospective study. The patients diagnosed with new-onset type 1 diabetes mellitus between April 1, 2020, and April 1, 2021, were included in the study. The rate of severe acute respiratory syndrome coronavirus 2 polymerase chain reactivity-positivity was investigated. The pandemic period was compared with the same period of the pre-pandemic 2 years in terms of number of new-onset type 1 diabetes mellitus patients, rate of presentation with diabetic ketoacidosis, and degree of diabetic ketoacidosis severity. RESULTS: In total, 56 patients were diagnosed with type 1 diabetes mellitus during the pandemic and 2 (3.57%) of them tested positive for severe acute respiratory syndrome coronavirus 2 polymerase chain reaction. The number of new-onset type 1 diabetes mellitus patients was 39 in 2019 and 39 in 2018. The rate of presentation with diabetic ketoacidosis was similar in the pandemic period compared to the pre-pandemic periods (53.5% in 2020 vs. 56.4% in 2019 and 53.8% in 2018; P = .94). The proportion of severe diabetic ketoacidosis was also similar in all years, respectively (43.3% in 2020 vs. 45.4% in 2019 and 47.6% in 2018; P = .95). CONCLUSION: We reported only 2 cases that tested positive for severe acute respiratory syndrome coronavirus 2among the new-onset type 1 diabetes mellitus patients during the pandemic. Although we found an increase in the number of new-onset type 1 diabetes mellitus cases by comparing with prepandemic period, rates of diabetic ketoacidosis and severe diabetic ketoacidosis were similar. There was no finding to suggest that severe acute respiratory syndrome coronavirus 2taking a part in type 1 diabetes mellitus pathogenesis. Since the development of type 1 diabetes mellitus is a long process, prospective studies are needed to investigate the long-term effects of severe acute respiratory syndrome coronavirus 2.

Psychiatric disorders, peer-victimization, and quality of life in girls with central precocious puberty.

OBJECTIVE: To evaluate the psychiatric diagnoses, peer-victimization, quality of life, and emotional and behavioral status of girls with central precocious puberty (CPP). METHODS: A total of 71 girls with CPP and 50 healthy controls participated in the study. All participants were evaluated using a semi-structured interview by a child and adolescent psychiatrist. To assess the peer-victimization, quality of life, depression levels, and emotional and behavioral status, the Olweus Bully/Victim Questionnaire, The Pediatric Quality of Life Inventory (PedsQL), the Child Depression Inventory (CDI) and Strengths and Difficulties Questionnaire (SDQ) was used in this study. RESULTS: Although the difference was not significant, the rate of being diagnosed with at least one psychiatric disorder was higher in CPP group (28%) than in control group (20%). The most common psychiatric disorder was social anxiety disorder (13%) for the CPP group. No significant difference was found between the CPP and the control groups in terms of mean CDI and PedsQL scores. When compared in terms of SDQ parameters, prosocial behavior scale scores were significantly higher in the CPP group than in the control group. Being a victim of bullying was found significantly more frequently in girls with CPP than among the healthy controls (28% vs. 12%). CONCLUSION: Due to the high rates of being bullied, girls with CPP should be screened for peer-victimization. Long-term prospective studies are also necessary to further elucidate the psychological consequences of CPP on girls.

The relationship of carotid intima-media thickness with anthropometric and metabolic parameters in patients with classic congenital adrenal hyperplasia

Background/aim: We aimed to determine the presence of subclinical atherosclerosis using carotid intima-media thickness (CIMT) and biochemical parameters in children and adolescents with congenital adrenal hyperplasia (CAH). Materials and methods: Thirty-four patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency on regular glucocorticoid treatment for ≥3 years and 31 healthy subjects were included in the study. The patients were divided into two groups according to the degree of control of the clinic, laboratory, and radiological parameters as a) "uncontrolled" [n= 22; with increased height velocity (HV) standard deviation score (SDS) (≥2 SDS), advanced bone age, serum 17-OH progesterone <2.0 and ≥10.0 ng/mL or androstenedione <0.3 and ≥ 3.0 ng/mL] or b) "controlled" [n= 12; with HV SDS < 2, bone age (BA)/ chronologic age (CA) ratio < 1.2, serum 17-OH progesterone between 2 and 10 ng/mL and androstenedione between 0.3 and 3.0 ng/mL]. Ultrasonographic examination of carotid artery was performed by the same radiologist using a B-mode ultrasound system. Results: There was no significant difference between the CAH and control groups in terms of median (IQR) CIMT values [0.47 (0.05) mm and 0.47 (0.07) mm, respectively; p > 0.05]. When subgroup comparisons were done in terms of median (IQR) CIMT values, there was no significant difference among the controlled, uncontrolled, and healthy control groups [0.45 (0.03) mm, 0.47 (0.04) mm, 0.47 (0.07) mm, respectively; p> 0.05]. In addition, CIMT levels were similar according to sex and disease control status. Conclusion: In this study, the CIMT values of CAH cases were similar to those of healthy subjects.

Prenatal smoke exposure is associated with increased anogenital distance in female infants: a prospective case-control study.

OBJECTIVES: To investigate the effects of maternal smoking during pregnancy on newborn infants' anogenital distance (AGD). METHODS: Fifty-six female and sixty-four male newborn infants from mothers who smoked during pregnancy were included in this study. A control group for each sex was selected from infants whose mothers had no active or passive (in either the household or the workplace) smoke exposure before or during pregnancy. Questionnaire data on maternal demographic characteristics and information about cigarette use were collected. We assessed genital anthropometry which included AGD for both male and female neonates, and stretched penile length (SPL), penile girth for males within the first 48 h after birth. AGD measurements were also normalized according to birth weight (AGD/weight in grams), length (AGD/height in millimeters), and ponderal index [AGD/(weight in grams/height in cubic centimeters)]. Anogenital index (AGI) was calculated by dividing the AGD by cube root of birth weight. RESULTS: In female infants, prenatal smoke exposure was associated with significantly increased weight-adjusted AGD (p=0.03). There was also a significant correlation between mothers' daily smoking rates and weight-adjusted AGD (r=0.27/p=0.03). In male infants, fetal smoke exposure was not associated with any AGD measurements, SPL and penile girth. CONCLUSIONS: A significant increase in weight-adjusted AGD in female infants exposed to maternal smoking may be an indicator of antenatal androgen exposure and may pose a risk for short and long-term endocrine, metabolic and behavioral problems.

Comparison of the effectiveness of simple carbohydrates on hypoglycemic episodes in children and adolescents with type 1 diabetes mellitus: A randomized study in a diabetes camp.

BACKGROUND: Hypoglycemia is the most common and severe complication of insulin treatment during the management of type 1 diabetes mellitus (T1DM). Despite its importance, there is a lack of data about the efficacy and superiority of the carbohydrate sources used in hypoglycemia management in children and adolescents. OBJECTIVE: We aimed to compare the effectiveness of honey, fruit juice, and sugar cubes as simple carbohydrates used in the primary treatment of hypoglycemia in children and adolescents with T1DM, who attended a diabetes summer camp. METHODS: A prospective randomized study was performed in a 5-days-long diabetes summer camp. Three different types of simple carbohydrates; sugar cubes, honey, or fruit juice were randomly given for the treatment of hypoglycemia and the recovery results in the three groups were compared. RESULTS: About 32 patients (53.1% male, mean age 12.9 ± 1.9 years) were included and 158 mild hypoglycemic episodes were observed. Sugar cubes, honey, and fruit juice were given in 46 (29.1%), 60 (37.9%), and 52 (33%) events, respectively. We found that honey and fruit juice had similar efficiency in recovering hypoglycemia in 15 minutes with a rate of 95% and 98%, respectively. However, sugar cubes had a significantly lower impact on treatment of hypoglycemia than the others, with a recovery rate of 84.7% at 15 minutes. CONCLUSIONS: This study showed, for the first time, that honey and fruit juice were more effective in treating hypoglycemia than sugar cubes, and can be preferred in treating hypoglycemic events in children and adolescents with T1DM.

Impaired systolic and diastolic left ventricular function in children and adolescents with congenital adrenal hyperplasia receiving corticosteroid therapy.

AimThe present study aimed to evaluate systolic and diastolic myocardial function in children and adolescents with congenital adrenal hyperplasia. METHODS: The study included 44 children with the diagnosis of classic congenital adrenal hyperplasia and 39 healthy children whose age, pubertal status, and gender were similar to those of the patient group. Anthropometric parameters and 17-hydroxyprogesterone levels were measured, and bone age was calculated. The average daily hydrocortisone dose was calculated over the last 1-year file records. Hyperandrogenic state was defined according to bone age SD score (⩾2) and 17-hydroxyprogesterone levels (>10 ng/ml). Echocardiographic examinations were assessed by conventional two-dimensional Doppler echocardiography and tissue Doppler imaging. RESULTS: Patients had higher morphological parameters, such as left ventricular end-systolic diameter, interventricular septal thickness at end diastole, left ventricular posterior wall thickness at end diastole, left ventricular mass and index, than the control group (p<0.05). On pulsed-wave and tissue Doppler echocardiography, significant subclinical alterations were observed in systolic (isovolumic contraction time), diastolic (isovolumic relaxation time), and global left ventricular functional (myocardial performance index) parameters in the congenital adrenal hyperplasia group compared to the control group (p<0.05). In partial correlation analyses, after controlling the effect of hyperandrogenism, the mean hydrocortisone dosage was positively correlated with isovolumic relaxation time in congenital adrenal hyperplasia group (p<0.05). CONCLUSION: This study demonstrated that the patients with congenital adrenal hyperplasia are at risk for left ventricular hypertrophy, systolic and diastolic myocardial subclinical alterations. Overtreatment may be responsible for the increased risk of myocardial dysfunction in patients with congenital adrenal hyperplasia.

Increased concentrations of serum nesfatin-1 levels in childhood with idiopathic chronic malnutrition

Background/aim: Nesfatin-1, an anorexigenic molecule, seems to play a role in appetite regulation and energy homeostasis. The goal of this study was to evaluate the relation of nesfatin-1 with anthropometric and metabolic (ghrelin, leptin) parameters in children with idiopathic chronic malnutrition. Materials and methods: The study included 37 underweight and 38 healthy children who were similar regarding age, sex, and pubertal status. Anthropometric and biochemical (nesfatin-1, ghrelin, and leptin levels) variables were assessed. Results: A total of 37 underweight subjects (mean age 10.5 ± 2.6 years) and 38 heathy subjects (mean age 10.3 ± 2.3 years) were recruited. Underweight children had significantly higher nesfatin-1 (2.76 ± 0.4 vs. 1.56 ± 0.7, P < 0.001) and lower leptin levels (2.21 ± 2.0 vs. 5.21 ± 2.4, P < 0.001) than those of the control subjects. Nesfatin-1 levels were significantly associated with only leptin levels, after adjusting for age and BMI (r = ­0.371, P = 0.001). Conclusion: The present study is the first to evaluate nesfatin-1 levels in relation with anthropometric and metabolic parameters in children with chronic malnutrition, who were subsequently found to have significantly higher nesfatin-1 levels. Our study underlines that nesfatin-1 may play a role in the development of malnutrition by inhibiting food intake in children.

Identification of an AR mutation in Klinefelter syndrome during evaluation for penoscrotal hypospadias.

Genital anomalies, ranging from female genitalia to milder degrees of undervirilization, are rarely reported in Klinefelter syndrome, in which a male is classically expected to be born with male external genitalia. Though androgen insensitivity syndrome (AIS) is one of the possible pathogenic mechanisms also in Klinefelter syndrome with genital anomalies, to date the AR gene has not been analyzed in any of the published cases of Klinefelter syndrome of the milder phenotype, except for those patients presenting with a severe phenotype, such as female external genitalia.Lack of interest in considering androgen insensitivity in Klinefelter syndrome with a milder phenotype of genital anomalies may impede its identification through an accurate diagnosis. We present a 14-month-old boy with penoscrotal hypospadias, micropenis, and a ventral penile chordee abnormality who was observed to have both a 47,XXY karyotype and a known missense mutation in the ARgene that was inherited from his mother. Although it is recommended that Klinefelter syndrome be considered in the differential diagnosis of penoscrotal abnormalities, mutations in specific genes involved in androgen synthesis or responsiveness should also be investigated.

A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans.

Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder due to mutations in the insulin receptor gene (INSR) which is mapped to 19p13.2. RMS is characterized by acanthosis nigricans, generalized lanugo, tooth and nail dysplasia, high nasal bridge, and growth retardation. A 5-year-old female patient was referred due to acanthosis nigricans and generalized lanugo. On her physical examination, severe acanthosis nigricans of the neck, axillae, the external genitalia and antecubital regions, generalized lanugo, mildly decreased subcutaneous fat, dysmorphic facial features, and polydactyly on her left hand were noted. Insulin resistance and impaired glucose tolerance were found. Sequence analysis of the INSR in the patient revealed c.3529+5G>A mutation in homozygous state. RMS should be suspected in a patient with characteristic physical features and insulin resistance.

Serum galectin-1 levels are positively correlated with body fat and negatively with fasting glucose in obese children.

Galectin-1, a recently identified peptide, is primarily released from the adipose tissue. Although galectin-1 was shown to have an anti-inflammatory effect, its specific function is not clearly understood. We aimed to evaluate the relationship of serum galectin-1 levels with clinical and laboratory parameters in childhood obesity. A total of 45 obese children (mean age: 12.1±3.1years) and 35 normal-weight children (mean age: 11.8±2.2years) were enrolled. Clinical [body mass index (BMI), waist circumference (WC), percentage of body fat and blood pressure] and biochemical [glucose, insulin, lipids, galectin-1, high-sensitive C-reactive protein (hsCRP) and leptin levels] parameters were assessed. Serum galectin-1, hsCRP and leptin levels were significantly higher in obese children than those in normal-weight children (12.4 vs 10.2ng/mL, p<0.001; 3.28 vs 0.63mg/L, p<0.001; 8.3 vs 1.2ng/mL, p<0.001, respectively). In obese children, galectin-1 levels correlated negatively with fasting glucose (r=-0.346, p=0.020) and positively with fat mass (r=0.326, p=0.026) and WC standard deviation score (SDS) (r=0.451, p=0.002). The multivariate regression analysis demonstrated that serum galectin-1 levels were significantly associated with fasting glucose and WC SDS. This study showed that obese children had significantly higher galectin-1 levels in proportion to fat mass in obese cases than those in healthy children, which may be interpreted as a compensatory increase in an attempt to improve glucose metabolism.

Intratubular large cell hyalinizing Sertoli cell tumor of the testis presenting with prepubertal gynecomastia: a case report.

Intratubular large cell hyalinizing Sertoli cell neoplasia (ITLCHSCN) resulting from Sertoli cells of the testis are mainly reported in young adults and these are rarely seen in childhood. The most common presenting symptoms of the patients diagnosed with ITLCHSCN are gynecomastia, enlargement in the testicles, increase in growth velocity, and advanced bone age. Symptoms are basically resulting from increased aromatase enzyme activity in Sertoli cells. In this case report, an eight-and-a-half-year-old case presenting with complaint of bilateral gynecomastia since two years, showing no endocrine abnormality in laboratory during two years of follow-up, determined to have progression in bilateral gynecomastia, increase in testicular volumes, advanced bone age, increase in growth velocity in the clinical follow-up, and diagnosed with ITLCHSCN after testis biopsy was presented.

The Relationship between Serum Zonulin Level and Clinical and Laboratory Parameters of Childhood Obesity.

OBJECTIVE: To investigate the relationship between zonulin levels and clinical and laboratory parameters of childhood obesity. METHODS: The study included obese children with a body mass index (BMI) >95th percentile and healthy children who were of similar age and gender distribution. Clinical (BMI, waist circumferences, mid-arm circumference, triceps skinfold, percentage of body fat, systolic blood pressure, diastolic blood pressure) and biochemical (glucose, insulin, lipid levels, thyroid function tests, cortisol, zonulin and leptin levels) parameters were measured. RESULTS: A total of 43 obese subjects (23 males, mean age: 11.1±3.1 years) and 37 healthy subjects (18 males, mean age: 11.5±3.5 years) were included in this study. Obese children had significantly higher insulin, homeostasis model assessment of insulin resistance, triglyceride, total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol (HDL-C), zonulin and leptin levels than healthy children (p<0.05), while glucose levels were not different (p>0.05). Comparison of the obese children with and without insulin resistance showed no statistically significant differences for zonulin levels (p>0.05). Zonulin levels were found to negatively correlate with HDL-C and positively correlate with leptin levels, after adjusting for age and BMI. CONCLUSION: To the best of our knowledge, this is the first study investigating the relationship between circulating zonulin level (as a marker of intestinal permeability) and insulin resistance and leptin (as markers of metabolic disturbances associated with obesity) in childhood obesity. The results showed that zonulin was significantly higher in obese children when compared to healthy children, a finding indicating a potential role of zonulin in the etiopathogenesis of obesity and related disturbances.

Child with RET proto-oncogene codon 634 mutation.

Ince D, Demirag B, Ataseven E, Oymak Y, Tuhan H, Karakus OZ, Hazan F, Abaci A, Özer E, Mutafoglu K, Olgun N. Child with RET proto-oncogene codon 634 mutation. Turk J Pediatr 2017; 59: 590-593. Herein we reported a 7-year-old child with RET proto-oncogene c634 mutation. Her mother had been diagnosed with medullary thyroid carcinoma (MTC), and treated six years ago. Heterozygous mutation of the RET proto-oncogene at c634 had been detected in her mother. Genetic analysis showed the presence of the same mutation in our patient. Thyroid functions were normal. Serum calcitonin level was found mildly elevated. Parathormone (PTH) and carcinoembrionic antigen (CEA) levels were normal. Prophylactic thyroidectomy and sampling of cervical lymph nodes were performed. Histopathologic examination revealed hyperplasia in thyroid C cells, and reactive lymphadenopathy. The risk of MTC has been reported 100% through the life of patients with RET proto-oncogene mutation. It has been reported that particularly patients with c634 mutation have more risk of occurence of metastatic and progressive/recurrent MTC. Prophylactic `thyroidectomy, cervical lymph node dissection` before 5-years-of-age should be considered for these patients.

Celiac disease in children and adolescents with Hashimoto Thyroiditis.

AIM: The aim of this study was to evaluate clinical and laboratory findings and determine the prevalence of celiac disease (CD) in children with Hashimoto thyroiditis (HT). MATERIAL AND METHODS: The data of a total of 80 patients with positive anti-thyroid antibodies who were aged between 6 and 17.9 years were retrospectively studied. Age, gender, complaints at the time of presentation, family history of thyroid disorders, clinical and laboratory findings were recorded. The levels of thyrotropin, free thyroxin, thyroid autoantibodies (thyroid peroxidase and thyroglobulin antibodies), immunoglobulin A (IgA), anti-tissue transglutaminase antibodies (IgA-tTG), and thyroid ultrasonography findings were enrolled. RESULTS: Eighty patients (65 females (81.2%) and 15 males (18,8%)) were included in the study. Family history of thyroid disease was present in 38 (47.5%) patients. The most common complaints at the time of presentation were goiter (%30) and weight gain (%25). Forty three (53.8%), 23 (28.7%), and 14 (17.5%) patients presented with euthyroidism, subclinical hypothyroidism and obvious hypothyroidism. Thirty seven (46.2%) patients had goiter. IgA-tTG was found to be positive after a diagnosis of HT was made in only one patient (1.25%) and the diagnosis of CD was confirmed when intestinal biopsy of this patient revealed villus atrophy, crypt hyperplasia and increase in the intraepithelial lymphocyte count. CONCLUSIONS: In our study, it was found that the most common complaints at presentation in patients with a diagnosis of hashimoto thyroiditis included goiter, weakness and weight gain and the prevalence of celiac diseases was found to be 1.25% (1/80). This study shows that the prevalence of CD in patients with a diagnosis of HT is higher compared to the prevalence in the healthy pediatric population.

Relation of serum irisin level with metabolic and antropometric parameters in obese children.

OBJECTIVE: This study aimed to investigate the relationship between serum irisin level and metabolic and anthropometric parameters in obese children. METHODS: The study included 36 obese children with a body mass index (BMI) of ≥95th percentile and 30 healthy children with a BMI ranging from the 5th to the 85th percentile. Healthy and obese children had similar age, gender and pubertal stage distribution. Anthropometric and biochemical parameters (fasting glucose, insulin, lipid profile, leptin and irisin levels) were measured. Bioelectric impedance analysis was used to determine the body composition parameters, including body fat percentage and fat mass. RESULTS: Serum irisin and leptin levels of the obese children were significantly higher than those of the healthy children [median irisin levels, 141.2 & 107.6ng/mL, p=0.024; median leptin levels, 10.9 & 2.9pg/mL, P<0.001, respectively). No statistically significant difference was found when leptin and irisin levels were compared among obese patients in terms of the presence of insulin resistance. Irisin levels significantly correlated with high-density lipoprotein cholesterol (HDL-C), fasting insulin and homeostasis model assessment-insulin resistance (HOMA-IR) with adjustment for age and BMI. The multivariate regression analysis showed that age, HOMA-IR and HDL-C had a significant association with the serum irisin level, which explained 30.6% of the variance. CONCLUSION: This study demonstrated that obese children had significantly higher irisin levels than healthy children. Additionally, it provides evidence regarding the role of irisin on insulin sensitivity and lipid metabolism in childhood obesity.