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Objective: Point-of-Care Ultrasound (POCUS) refers to the use of portable ultrasound machines to perform quick and focused ultrasound examinations at a patient's bedside or point-of-care. POCUS can be performed by all health workers with specific training to use POCUS. The aim of this study was to investigate the radiological performance and feasibility of POCUS using a handheld ultrasound device (HHUSD) in children for examining the thyroid gland. Methods: A pediatric endocrinologist performed thyroid imaging in children referred to our hospital with suspected thyroid disease using an HHUSD. The same children underwent ultrasonography (US) imaging using the same device by the first radiologist, and a second radiologist performed thyroid US using an advanced high-range ultrasound device (AHUSD) (defined as the gold-standard method) within two hours. The data obtained by the three researchers were compared with each other. Results: This study included 105 patients [68.6% girls (n=72)] with a mean age 12.8±3.6 years. When the thyroid volume was evaluated, a strong correlation was found between the measurements of the three researchers (AA vs. MG: r=0.963, AA vs. GT: r=0.969, MG vs. GT: r=0.963, p<0.001). According to the Bland-Altman analysis for total thyroid volume, AA measured 0.43 cc [95% confidence interval (CI): -0.89-0.03] smaller than MG, and 0.11 cc (95% CI: -0.30-0.52) larger than GT, whereas MG measured 0.52 cc (95% CI: 0.09-0.94) larger than GT. When evaluated for the presence of goiter and nodules, a near-perfect agreement was found between the results of the three researchers (AA vs. GT; κ=0.863, MG vs. GT; κ=0.887, p<0.001, and AA vs. GT; κ=1.000, MG vs. GT; κ=0.972, p<0.001, respectively). When evaluated in terms of the longest axis of nodules, a high correlation was found between the measurements of the three researchers (AA vs. MG; r=0.993, AA vs. GT; r=0.996, MG vs. GT; r=0.996, p<0.001). When evaluated in terms of the final diagnosis, the evaluations of the three researchers showed excellent agreement with each other (AA vs. GT; κ=0.893, MG vs. GT; κ=0.863, p<0.001, accuracy rate AA vs. GT: 93.3%; MG vs. GT: 91.4%). Conclusion: A pediatric endocrinologist, equipped with sufficient training in thyroid US evaluation, incorporated HHUSD examination as a routine clinical tool in an outpatient setting. It was shown that, they could effectively assess normal thyroid tissue in pediatric patients. Moreover, the HHUSD proved to be useful in detecting thyroid pathologies. However, it is important to note that for a more comprehensive evaluation of thyroid nodules, including detailed assessment and Thyroid Imaging Reporting and Data System (TIRADS) classification, patients should be referred to radiology departments equipped with AHUSD systems. These specialized devices, along with the expertise of radiologists, are essential for in-depth evaluations and accurate classification of thyroid nodules. [ABSTRACT FROM AUTHOR]

Aromatic L-amino acid decarboxylase (AADC) deficiency is a disease in which neurological findings are dominant due to deficiencies in neurotransmitter synthesis. Hypoglycemia caused by autonomic dysfunction is one of the symptoms that may be encountered. Here we report a case of mild AADC deficiency presenting with hypoglycemia without any neurological signs. A 4-year-old girl presented with recurrent hypoglycemia. Her growth and development were normal. Plasma insulin and cortisol values were normal in the sample at the time of hypoglycemia. C8:1-Carnitine elevation was detected in the acylcarnitine profile. A clinical exome panel was performed with the suggestion of a fatty acid oxidation defect. However, a homozygous variant in the DDC gene was detected. Furthermore, cerebrospinal fluid neurotransmitter analysis revealed low 5-hydroxyindolacetic acid and homovanillic acid and high 3-O-methyldopa and methyltetrahydrofolate (5 MTHF) consistent with AADC deficiency. Plasma AADC enzyme activity was low. The episodes of hypoglycemia were treated with uncooked cornstarch. This case suggests that AADC deficiency should be considered in some patients with hypoglycemia. [ABSTRACT FROM AUTHOR]

Objective: In animal models of obesity, adipocyte-derived versican, and macrophage-derived biglycan play a crucial role in mediating adipose tissue inflammation. The aim was to investigate levels of versican and biglycan in obese children and any potential association with body adipose tissue and hepatosteatosis. Methods: Serum levels of versican, biglycan, interleukin-6 (IL-6), and high sensitivity C-reactive protein (hsCRP) were measured by ELISA. Fat deposition in the liver, spleen, and subcutaneous adipose tissue was calculated using the IDEAL-IQ sequences in magnetic resonance images. Bioimpedance analysis was performed using the Tanita BC 418 MA device. Results: The study included 36 obese and 30 healthy children. The age of obese children was 13.6 (7.5-17.9) years, while the age of normal weight children was 13.0 (7.2-17.9) years (p=0.693). Serum levels of versican, hsCRP, and IL-6 were higher in the obese group (p=0.044, p=0.039, p=0.024, respectively), while no significant difference was found in biglycan levels between the groups. There was a positive correlation between versican, biglycan, hsCRP, and IL-6 (r=0.381 p=0.002, r=0.281 p=0.036, rho=0.426 p=0.001, r=0.424 p=0.001, rho=0.305 p=0.017, rho=0.748 p<0.001, respectively). Magnetic resonance imaging revealed higher segmental and global hepatic steatosis in obese children. There was no relationship between hepatic fat content and versican, biglycan, IL-6, and hsCRP. Versican, biglycan, hsCRP, and IL-6 were not predictive of hepatosteatosis. Body fat percentage >32% provided a predictive sensitivity of 81.8% and a specificity of 70.5% for hepatosteatosis [area under the curve (AUC): 0.819, p<0.001]. Similarly, a body mass index standard deviation score >1.75 yielded a predictive sensitivity of 81.8% and a specificity of 69.8% for predicting hepatosteatosis (AUC: 0.789, p<0.001). Conclusion: Obese children have higher levels of versican, hsCRP, and IL-6, and more fatty liver than their healthy peers. [ABSTRACT FROM AUTHOR]

Background. Myxedema coma is a rare, but life-threatening endocrinological emergency. Myxedema is characterized by altered mental status, and is accompanied by hypotension, bradycardia, hypothermia, bradypnea, hyporeflexia, hyponatremia, and hypoglycemia, all stemming from reduced metabolism due to severe hypothyroidism. Additionally, patients may exhibit signs of low cardiac output, edema in the extremities, peripheral circulatory disturbances, shock, and the development of pericardial and pleural effusions, ultimately leading to confusion and coma. We present a successfully treated case of severe myxedema coma with recurrent pericardial effusion and hypotensive shock. This case is characterized by an unusual clinical presentation and required a distinct treatment strategy highlighting its exceptional rarity. Case. A 2-year-old boy with Down syndrome presented with recurrent pericardial effusion attributed to medication non-adherence. The critically-ill patient, experiencing a severe cardiogenic shock required mechanical ventilation and inotropic infusions in the pediatric intensive care unit. Elevated thyroid stimulating hormone (TSH), and low free T4 (fT4) and free T3 (fT3) levels prompted consideration of myxedema coma. Upon reviewing the patient's medical history, it was ascertained that he had an ongoing diagnosis of primary hypothyroidism, and exhibited non-adherence to the prescribed treatment regimen and failed to attend scheduled outpatient clinic appointments for follow-up assessments. The treatment plan, devised by the pediatric endocrinology team, included the peroral administration of L-thyroxine (L-T4) at a dose of 50 micrograms per day. After beginning regular oral L-T4 treatment, a gradual improvement in the patient's condition was observed. Notably, by the 15th day of oral therapy, the patient had made a full recovery. Contrary to the recommended intravenous treatment for myxedema coma, this patient was successfully treated with oral levothyroxine, due to the unavailability of the parenteral form in Türkiye. Conclusions. This case report presents an instance of non-adherence to L-T4 therapy, which subsequently progressed to severe myxedema coma. Changes in neurologic status and hemodynamic instability in a patient with a history of hypothyroidism should raise the concern of nonadherence and, though rare, myxedema coma should be in the differential diagnosis. [ABSTRACT FROM AUTHOR]

We aimed to obtain local normative data on thyroid volume evaluated by ultrasonography and iodine status by measuring urine iodine levels in school-age children living in Aydın province. In this cross-sectional study, a sample comprising 1,553 cases was meticulously selected from a total cohort of 170,461 children aged 6–17, drawn from 21 distinct educational institutions located within the Aydın region, as participants in the investigation. Those with a known chronic disease or thyroid disease were excluded from the study. The children underwent physical examinations and ultrasonography imaging of the thyroid gland, and urine samples were collected to measure urinary iodine concentration (UIC). The median UIC was 189.5 (IQR=134.4) μg/L, which was optimal according to WHO criteria. Thyroid volume was found to be 4.6 (IQR=3.5) mL in girls and 4.2 (IQR=4.0) mL in boys (p=0.883). The thyroid volumes in our study were found to be smaller when compared to the WHO. According to WHO age and body surface area criteria, thyroid volume was over 97 % in 0.9 % (n=15) of cases. Thyroid volume was found to have a positive correlation with age, height, weight, body mass index (BMI), and body surface area (BSA) in both genders (p<0.001). However, there was no significant correlation between thyroid volume and UIC. This cross-sectional study provides normative data on thyroid volume and iodine status in school-age children in iodine-sufficient population, revealing a low prevalence of goiter and correlations between thyroid volume and anthropometric measures. [ABSTRACT FROM AUTHOR]

Objective: Both body weight (BW)- and body surface area (BSA)-based dosing regimens have been recommended for growth hormone (rhGH) replacement. The aim was to compare the two regimens to determine if either resulted in inadequate treatment depending on anthropometric factors. Methods: The retrospective study included children diagnosed with idiopathic isolated growth hormone deficiency. BW-based dosing in mcg/kg/day was converted to BSA in mg/m2/day to determine the equivalent amounts of the given rhGH. Those with a BW-to-BSA ratio of more than 1 were allocated to the "relatively over-dosed group", while the remaining patients with a ratio of less than 1 were assigned to the "relatively under-dosed" group. Patients with a height gain greater than 0.5 standard deviation score (SDS) at the end of one year were classified as the height gain at goal (HAG), whereas those with a height gain of less than 0.5 SDS were assigned as the height gain not at goal (NHAG). Results: The study included 60 patients (18 girls, 30%). Thirty-six (60%) patients were classified as HAG. The ratio of dosing based on BW-to-BSA was positively correlated both with the ages and body mass index (BMI) levels of the patients, leveling off at the age of 11 at a BMI of 18 kg/m2. The relative dose estimations (over- and under-dosed groups) differed significantly between the patients classified as HAG or NHAG. Fifty-six percent of NHAG compared to 44% of HAG patients received relatively higher doses, while 79% of HAG compared to 21% of NHAG received relatively lower doses (p=0.006). When the patients were subdivided according to their pubertal status, higher doses were administrated mostly to the pubertal patients in both the NHAG and HAG groups. In the pre-pubertal age group, 73% of NHAG compared to 27% of HAG received relatively higher doses, while 25% of NHAG compared to 75% of HAG received relatively lower doses (p=0.01). Conclusion: Dosing based on BW may be preferable in both prepubertal and pubertal children who do not show adequate growth responses. In prepubertal children, relatively lower doses calculated based on BW rather than BSA provide similar efficacy at lower costs. [ABSTRACT FROM AUTHOR]

Craniofrontonasal syndrome (CFNS), also known as craniofrontonasal dysplasia, is an X-linked inherited developmental malformation caused by mutations in the ephrin B1 (EFNB1) gene. The main phenotypic features of the syndrome are coronal synostosis, hypertelorism, bifid nasal tip, dry and curly hair, and longitudinal splitting of nails. A 9-year-and-11-month-old girl with CFNS was admitted due to polyuria, polydipsia, fatigue, and abdominal pain. On physical examination, she had the classical phenotypical features of CFNS. Genetic tests revealed a c.429_430insT (p.Gly144TrpfsTer31) heterozygote variant in the EFNB1 coding region. The patient was diagnosed with type 1 diabetes mellitus (T1DM) and autoimmune thyroiditis based on laboratory findings and symptoms. The mother of the patient, who had the same CFNS phenotype and EFNB1 variant, was screened for autoimmune diseases and was also with autoimmune thyroiditis. This is the first report describing the association of CFNS with T1DM and autoimmune thyroiditis in patients with EFNB1 mutation. [ABSTRACT FROM AUTHOR]

Objective: Pseudoepiphyses are notches and clefts located at the non-epiphyseal ends of the metacarpal bones. There are very few studies regarding the frequency of pseudoepiphysis. Material and Methods: Subjects between the ages of 5 and 15, whose hand radiographs were obtained between 2015 and 2021 in our Radiology Department, were included in this study. A total of 1071 patients were included in the study. A single radiologist evaluated these radiographs in 3 different time periods. Pseudoepiphyses that involve one cortex of the metacarpal bone are considered as partial pseudoepiphyses, whereas those that involve both cortices are considered as complete pseudoepiphyses. Results: Of the 1071 patients included in the study, 65.9% (n = 706) were girls. The mean age was 9.5 ± 2.6 years. Pseudoepiphysis was detected in 222 (20.7%) cases. Pseudoepiphysis was more common in boys (27.4%) than girls (17.3%) (P < .001). The frequency of partial pseudoepiphysis was found to be significantly higher than that of complete pseudoepiphysis [n = 212 (19.8%) and n = 20 (1.9%), respectively, P < .001]. Partial pseudoepiphysis was most frequently detected in the second metacarpal bone, and complete pseudoepiphysis was most frequently detected in the first metacarpal bone. Of 222 cases with pseudoepiphysis, 76.6% (n = 170) had in 1 location, while 21.2% (n = 47) had in 2 locations, 1.8% (n = 4) in 3 locations, and 0.5% (n = 1) in 4 locations. Conclusion: Pseudoepiphysis is a normal variant of metacarpal ossification; it does not adversely affect the development of the bone and is frequently seen in healthy children. [ABSTRACT FROM AUTHOR]

Copyright of Meandros Medical & Dental Journal is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Meandros Medical & Dental Journal is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Cutaneous changes in obese adults have been investigated in numerous studies, but this issue has not been adequately investigated in children. Objectives: We aimed to determine the prevalence of skin manifestations in children with obesity by comparing them to normal‐weight children. Methods: A cross‐sectional study was conducted between June 2017 and January 2019 in which 82 children with obesity and 86 normal‐weight healthy control children were enrolled. Study participants had detailed full‐body skin examinations performed by the same dermatologist; mycological and Wood's lamp examinations were performed when necessary. Sociodemographic and anthropometric measurements of the participants were recorded. Results: Striae distensae were the most common skin manifestation in children with obesity; striae were significantly higher in the obese than in the control group (72% vs. 26.7%, p <.001). The anatomical distribution of the striae distensae in the groups differed significantly. Striae distensae were most commonly observed on the buttocks in the control group, while the thighs were the most common site in the obese group. Acanthosis nigricans (63.4% vs. 3.5%, p <.001), acrochordons (17.1% vs. 1.2%, p <.001), keratosis pilaris (32.9% vs. 17.4%, p =.021), intertrigo (11% vs. 0%, p =.001), folliculitis (31.7% vs. 5.8%, p <.001), seborrheic dermatitis (12.2% vs. 3.5%, p =.035) and facial erythema (7.3% vs. 0%, p =.012) were found to be statistically significantly more common in the obese group compared to the control group. Conclusions: Obesity in children is associated with numerous cutaneous manifestations. Further study is needed to identify whether weight loss can reduce skin manifestations in obese children. [ABSTRACT FROM AUTHOR]

Osteogenesis imperfecta (OI), is a heritable, heterogeneous connective tissue disorder, characterized by fragile bones. There are conflicting results about genotype-phenotype correlations and efficiency of bisphosphonate treatment in this disorder. We aimed to evaluate the clinical, genetic characteristics, and long-term follow-up results of children and adolescents with OI. A two-center retrospective study was conducted using demographic, clinical, and genetic data obtained from the medical records of the patients. Twenty-nine patients (62% male, median age; 3.6 years) with OI diagnosis from 26 families were included in the study. Thirteen different variants (nine were novel) were described in 16 patients in COL1A1, COL1A2, and P3H1 genes. Our siblings with homozygous P3H1 variants had a severe phenotype with intrauterine and neonatal fractures. Twenty-two patients were treated with bisphosphonates (17 of them with pamidronate, five with alendronate) with a median duration of 3.0 (1.6–4.8) years. Eleven patients (50%) suffered from fractures after the treatment. Haploinsufficiency variants in COL1A1 caused a milder skeletal phenotype with less fracture count and better treatment outcomes than structural variants. When compared with the anthropometric measurements at the initial diagnosis time, height Z-scores were lower on the last clinical follow-up (p = 0.009). We could not find an obvious genotype-phenotype correlation in Turkish OI patients with COL1A1 or COL1A2 variants. Treatment with pamidronate was effective in reducing fracture counts, without any long-term adverse effects. [ABSTRACT FROM AUTHOR]

Context: There is a significant challenge of attributing specific diagnoses to patients with primary adrenal insufficiency of unknown etiology other than congenital adrenal hyperplasia (non-CAH PAI). Specific diagnoses per se may guide personalized treatment or may illuminate pathophysiology. Objective: This work aimed to investigate the efficacy of steroid hormone profiles and high-throughput sequencing methods in establishing the etiology in non-CAH PAI of unknown origin. Methods: Pediatric patients with non-CAH PAI whose etiology could not be established by clinical and biochemical characteristics were enrolled. Genetic analysis was performed using targeted-gene panel sequencing (TPS) and whole-exome sequencing (WES). Plasma adrenal steroids were quantified by liquid chromatography–mass spectrometry and compared to that of controls. This study comprised 18 pediatric endocrinology clinics with 41 patients (17 girls, median age: 3 mo, range: 0-8 y) with non-CAH PAI of unknown etiology. Results: A genetic diagnosis was obtained in 29 (70.7%) patients by TPS. Further molecular diagnosis could not be achieved by WES. Compared to a healthy control group, patients showed lower steroid concentrations, most statistically significantly in cortisone, cortisol, and corticosterone (P < .0001, area under the receiver operating characteristic curve: .96, .88, and .87, respectively). Plasma cortisol of less than 4 ng/mL, cortisone of less than 11 ng/mL, and corticosterone of less than 0.11 ng/mL had a greater than 95% specificity to ensure the diagnosis of non-CAH PAI of unknown etiology. Conclusion: Steroid hormone profiles are highly sensitive for the diagnosis of non-CAH PAI of unknown etiology, but they are unlikely to point to a specific molecular diagnosis. TPS is an optimal approach in the molecular diagnosis of these patients with high efficacy, whereas little additional benefit is expected from WES [ABSTRACT FROM AUTHOR]

Background: Many factors are affecting intrauterine growth. The role of Wingless-type (Wnt) inducible signaling pathway protein-1 (WISP1), a novel adipokine and placental proteoglycans in intrauterine growth, is not known. We aimed to measure umbilical cord blood levels of glucose, insulin, leptin, WISP1, and placental proteoglycans [glypican-1 (GPC1), glypican-3 (GPC3), and syndecan-1 (SDC1)] which are thought to have an important role in fetal growth and investigate their relation with birth weight. Methods: Full-term neonates were included in this prospective, cross-sectional study and classified as appropriate for gestational age (AGA), small for gestational age (SGA), and large for gestational age (LGA) according to their birth weight. Umbilical cord blood levels of glucose, insulin, leptin, WISP1, GPC1, GPC3, and SDC1 were measured. Results: Leptin levels were higher in LGA newborns compared to AGA and SGA newborns, while WISP1, GPC1, GPC3, and SDC1 levels were not different between the three groups. Leptin and GPC1 levels were higher in infants of mothers with gestational diabetes mellitus compared to infants of non-diabetic mothers, while WISP1, GPC3, and SDC1 were not different between the groups. Leptin was positively correlated with insulin, birth weight, and maternal weight. While there was a strong correlation between the WISP1, GPC1, GPC3, and SDC1 levels; there was no correlation between the birth weight, maternal weight, glucose, insulin, and WISP1, GPC1, GPC3, and SDC1 levels. Conclusion: Umbilical cord blood levels of GPC1, GPC3, SDC1, and WISP1 were not different between SGA, AGA, and LGA infants. The significance of serum levels of these adipokines and proteoglycans remains to be elucidated. Keywords: Umbilical cord blood, WISP1, proteoglycan, glypican-1, glypican-3, syndecan-1 [ABSTRACT FROM AUTHOR]

Objective: Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood in Turkey. Methods: Patients aged 0-18 years, who were molecularly diagnosed with monogenic diabetes, and consented to participate, were included in the study. Results: Seventy-seven (45.6%) female and 92 male cases with a mean age of 8.18±5.05 years at diagnosis were included. 52.7% of the cases were diagnosed with monogenic diabetes by random blood glucose measurement. The reason for genetic analysis in 95 (56.2%) of cases was having a family member diagnosed with diabetes under the age of 25. At the time of diagnosis, ketone was detected in urine in 16.6% of the cases. Mean hemoglobin A1c on admission, fasting blood glucose, fasting insulin, and c-peptide values were 7.3±2.1%, 184.9±128.9 mg/dL, 9.4±22.9 IU/L, 1.36±1.1 and ng/L respectively. GCK-MODY was found in 100 (59.2%), HNF1AMODY in 31 (18.3%), and variants in ABCC8 in 6 (3.6%), KCNJ11 in 5 (3%), HNF4A in 2 (1.2%), and HNF1B in 2 (1.2%). Conclusion: Recent studies have indicated HNF1A-MODY is the most frequent of all the MODY-monogenic diabetes cases in the literature (50%), while GCK-MODY is the second most frequent (32%). In contrast to these reports, in our study, the most common form was GCKMODY while less than 20% of cases were diagnosed with HNF1A-MODY. [ABSTRACT FROM AUTHOR]

Objective: To explore the iodine status of lactating mother-newborn pairs, and whether neonatal serum thyroid-stimulating hormone (TSH) can be used for estimation of iodine status of the population. Materials and Methods: A total of 334 mothers and their healthy neonates were included. Urine, serum, and breast milk samples were obtained at 4th and 6th days of delivery. Urinary iodine concentration (UIC) was measured in urine samples of mothers and their neonates, as well as breast milk iodine concentration (BMIC) and serum thyroid hormone levels of neonates, were measured from the samples taken between the 4th and 6th days after birth. Results: Median age of the mothers was 27 years (23-30). The median UIC of mothers and their newborns were 125 µg/L and 142 µg/L, respectively. The median BMIC was 138,0 µg/L. There was a significant positive correlation between the BMIC and UIC of neonates (r=0.276, p<0.001). The prevalence of neonatal serum TSH >10 mIU/L, which is suggestive of mild iodine deficiency (i.e. 3.0-19.9%), was 19.0%. However, there were no participants with iodine deficiency in lactating mothers and neonates according to UIC. Conclusion: By previous reports, Aydın is iodine sufficient. Although 19% of the neonates had serum TSH levels >10 mU/L, which is suggestive of a mild iodine deficiency, iodine deficiency was observed in none of the neonates and their mothers. Therefore, it will be appropriate to investigate the role of neonatal TSH levels in a larger sample to assess the iodine status of the population. [ABSTRACT FROM AUTHOR]

Aim: This study aims to assess white blood cell count, platelet count, and platelet indices as a metabolic indicator in overweight, obese and morbidly obese children. Materials and Methods: One-hundred and thirty overweight, 341 obese, 188 morbidly obese children and 110 controls were enrolled in the study. Anthropometric measurements, pubertal status, complete blood count parameters [white blood cells (WBC), platelet, mean platelet volume (MPV), plateletcrit (PCT), and platelet distribution width (PDW)], WBC differential (neutrophils, lymphocytes, and monocytes), neutrophil/lymphocyte ratio (NLR) and platelet/lymphocyte ratio (PLR), and serum levels of glucose, lipids, aspartate transaminase (AST), and alanine transaminase (ALT), insulin and thyroid hormones were obtained from the hospital records. Insulin resistance was assessed according to the homeostasis model assessment-insulin resistance (HOMA-IR) index. Results: WBC, neutrophil, lymphocyte, and monocyte counts were highest in the morbidly obese group followed by the obese, overweight, and healthy groups, respectively. Platelet count, PCT, and PDW were significantly higher in the morbidly obese, obese, and overweight groups compared to the healthy group. However, there was no significant difference between the groups in terms of MPV, NLR, and PLR. WBC, neutrophil, lymphocyte, platelet, PCT, ALT, and triglyceride levels were higher in children with insulin resistance than those without insulin resistance. There was a positive correlation with the neutrophil, lymphocyte, monocyte count, and PCT value, and a negative correlation with the PDW value. Moreover, there was a positive correlation between the HOMA-IR and WBC, neutrophil, lymphocyte count, and PCT. Conclusion: WBC, neutrophils, lymphocytes, monocytes, platelets, and PCT values increase in childhood obesity, which could point towards low-grade chronic inflammation and this increase in WBC, neutrophils, lymphocytes, and PCT value may be associated with insulin resistance. [ABSTRACT FROM AUTHOR]

Aim: To evaluate cases referred from the congenital hypothyroidism (CH) new-born screening program. Materials and Methods: One hundred and thirty-five cases which were referred between January 2017 and July 2019 were included in the study. Results: Fourty eight of 135 cases (35.6%) were diagnosed as CH. The mean onset of treatment was 17.31±9.92 days. Clinical findings suggesting hypothyroidism were detected in 27 patients (56.2%) and goiter was detected in 2 patients (4.1%). According to imaging findings, 16 (35.5%) patients were diagnosed as dysgenesis, [1 (2.2%) as agenesia, 3 (6.7%) as ectopia, and 12 (26.6%) as hypoplasia], 11 were diagnosed as dyshormonogenesis (24.5%), and 18 were diagnosed as eutopic thyroid (40%). The mean levothyroxine dose was 12.7±2.5 mcg/kg/day and the mean onset of treatment in 30.4% of diagnosed patients was within the first 14 days and 93.3% were within the first 30 days. Conclusion: Dysgenesis and dyshormonogenesis are the most common detectable causes of CH. The normal localization of the thyroid gland in about half of the patients suggests that transient causes of CH may be more common than expected. Considering that only 1/3 of the patients were treated in the first 2 weeks, it was thought that the referral of patients is still an important problem and it should be done more promptly. [ABSTRACT FROM AUTHOR]

Background and Design: Type 1 diabetes mellitus (T1DM) can cause significant changes in the skin. However, there are limited studies examining the skin findings in children with T1DM. The objective of this study is to determine the frequency of skin lesions in children with T1DM. Additionally, this study also evaluates the relationship of skin lesions with disease duration and hemoglobin A1c (HbA1c) levels. Materials and Methods: This cross-sectional study enrolled 65 children with T1DM and 78 age- and sex-matched healthy children. Importantly, detailed skin examinations of the cases were conducted. Results: The mean age at the onset of disease was 7.1±3.7 years, and the mean duration of T1DM was 45.9±40.4 months. The mean level of HbA1c in children with T1DM was determined as 8.0±1.6%. In total, 9 (13.8%) of the patients were using insulin infusion pump, whereas 56 of them were using multiple insulin injections therapy. At least one skin lesion related to insulin treatment was recorded in 54 patients (83%). Bruises (50.8%), lipohypertrophy (44.6%), and post-inflammatory hyperpigmentation (26.2%) were among the most observed skin reactions related to the insulin treatment. However, hypopigmented scar was the most frequently observed skin reaction related to the insulin treatment among the patients using insulin infusion pump (5/9, 55%). Only xerosis and rubeosis faciei diabeticorum were found to be significantly higher in the T1DM group, as compared to healthy controls. Xerosis was observed in 19 (29%) patients with DM and 8 (10.2%) healthy controls, whereas rubeosis faciei was observed in 6 (9.2%) patients with DM and 1 (1.3%) healthy control. Although not statistically significant, it was found that the disease duration was longer and HbA1c levels were higher in T1DM patients with rubeosis faciei or xerosis. Conclusion: We believe that significant benefits can be provided for the management and prevention of skin findings in children with T1DM through the training of the patients and caregivers as well as by increasing the awareness of physicians. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Current Pediatrics / Guncel Pediatri is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of Dr. Behcet Uz Children's Hospital is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objectives: Endothelial dysfunction is an early marker of vascular disease in Type 1 diabetes mellitus (T1DM). In the present study, we aimed to investigate serum endocan and soluble endoglin (S-endoglin) levels, and their relation with metabolic control in children with T1DM, which was not previously assessed. Methods: A total of 64 T1DM subjects and 64 healthy subjects were included in this study. Their anthropometric features, arterial blood pressures, pubertal status, insulin doses were recorded. Glycated hemoglobin, serum endocan and S-endoglin levels were measured and compared to each other. Results: Serum endocan and S-endoglin levels were higher in children with T1DM than those of healthy group (p<0.01). Significant positive correlation was detected between both endocan and S-endoglin (r=0.579, p<0.001); and HbA1c and endocan (r=0.296, p=0.01). Compared to patients with good metabolic control, those with poorer metabolic control (HbA1c > 8%) had an older age, longer duration of diabetes, higher number of pubertal children. Also, patients with poorer metabolic control had higher endocan and S-endoglin levels than those of healthy group, but this finding did not reach statistical significance. There was no correlation between the endocan/S-endoglin levels and age, duration of diabetes and insulin dose. Conclusion: Serum levels of endocan and S-endoglin which are novel biomarkers of endothelial dysfunction are high in children with T1DM. Elevated serum endocan and endoglin levels in children with T1DM without microvascular complications indicates endothelial damage in very early stages of the disease. [ABSTRACT FROM AUTHOR]

Background: Data on thyroid imaging reporting and data system (TI-RADS) generally belong to studies performed in adults. Therefore, we aimed to evaluate the performance and utility of TI-RADS in the pediatric group. Materials and Methods: From January 2015 to 2018, 108 nodules were evaluated in 1028 thyroid ultrasound examinations. Images were retrospectively evaluated by two radiologists with 3 and 7 years of pediatric radiology experience, according to TI-RADS classification. Morphological findings of the detected nodules and their histopathological results were recorded. Histopathological findings and at least 12 months of follow-up imaging were taken as reference. Results: Seventy-one patients were female (67%). The mean age was 11.4 ± 4.7, and the mean nodule size was 7.4 ± 8.3 mm. According to the histopathological assessment and at least 12 months' follow-up with clinical and sonographic stability 100 (95.2%) of the nodules were benign and 5 (4.8%) were malignant. Two nodules, nondiagnostic cytology and 1 nodule were found to be suspicious for malignancy. All malignant nodules were in the TI-RADS 5 category. The majority of benign nodules (79%) were found in low TI-RADS categories. About 80% of the malignant nodules were very hypoechoic and taller than wide in shape, also all malignant nodules had microcalcifications (P = 0.000). The sensitivity of TI-RADS was 100%, specificity was 78.8%, positive predictive value (PPV) was 19.2%, and negative predictive value (NPV) was 100%. Conclusion: According to our study, TI-RADS system can be used to evaluate thyroid nodules in pediatric patients similar to adults. [ABSTRACT FROM AUTHOR]

Objective: No large study has been conducted to date to compare the effectiveness of prednisolone, alendronate and pamidronate as first-line treatment in children with hypercalcemia due to vitamin D intoxication. The aim was to perform a multicenter, retrospective study assessing clinical characteristics and treatment results. Methods: A standard questionnaire was uploaded to an online national database system to collect data on children with hypercalcemia (serum calcium level >10.5 mg/dL) due to vitamin D intoxication [serum 25-hydroxyvitamin D (25(OH)D) level >150 ng/mL] who were treated in pediatric endocrinology clinics. Results: Seventy-four children [median (range) age 1.06 (0.65-1.60) years, 45 males (61%) from 11 centers] were included. High-dose vitamin D intake was evident in 77% of the cases. At diagnosis, serum calcium, phosphorus, alkaline phosphatase, 25(OH)D and parathyroid hormone concentrations were 15±3.2 mg/dL, 5.2±1.2 mg/dL, 268±132 IU/L, 322 (236-454) ng/mL, and 5.5 (3-10.5) pg/ mL, respectively. Calcium levels showed moderate correlation with 25(OH)D levels (rs=0.402, p<0.001). Patients were designated into five groups according to the initial specific treatment regimens (hydration-only, prednisolone, alendronate, pamidronate, and combination). Need for another type of specific drug treatment was higher in children who initially received prednisolone (p<0.001). Recurrence rate of hypercalcemia was significantly lower in children who were treated with pamidronate (p=0.02). Conclusion: Prednisolone is less effective in the treatment of children with severe hypercalcaemia secondary to vitamin D intoxication and timely implementation of other treatment regimens should be considered. [ABSTRACT FROM AUTHOR]

In the article, the author presents the case of a 17-year-old woman who was rushed to a clinic due to palpitation, weight loss, and irritability to discuss a beta-blocker rebound phenomenon in young people with Graves' disease, which is a common cause of hyperthyroidism in children. Also cited are the symptoms of the disease like sweating, tremor, and palpitation, and how the phenomenon occurred after she was treated with low-dose propranolol.

Objective: A comprehensive survey was conducted to evaluate the shortcomings of clinical care in patients with Turner syndrome (TS) in Turkey. Methods: A structured questionnaire prepared by the Turner study group in Turkey, which covered relevant aspects of patient care in TS was sent to 44 pediatric endocrinology centers. Results: Eighteen centers (41%) responded to the questionnaire. In the majority of the centers, diagnostic genetic testing, screening for Y chromosomal material, protocols regarding the timing and posology of growth hormone (GH) and estrogen, thrombophilia screening, fertility information and screening for glucose intolerance, thyroid, and coeliac diseases in patients with TS were in line with the current consensus. Thirteen centers (72.2%) performed GH stimulation tests. Only four centers (22.2%) used oxandrolone in patients with TS with very short stature. The majority of the centers relied on bone age and breast development to assess estrogen adequacy, though together with variable combinations of oestrogen surrogates. Two centers (11.1%) reported performing serum estradiol measurements. Eight centers (44.4%) routinely conducted cardiac/thoracic aorta magnetic resonance imaging. Screening for hearing, dental and ophthalmologic problems were performed by thirteen (72.2%), six (33.3%) and ten (55.6%) centers, respectively. Psychiatric assessments were made by four centers (22.2%) at diagnosis, with only one center (5.6%) requiring annual reassessments. Conclusion: Although we found some conformity between the current consensus and practice of the participating centers in Turkey regarding TS, further improvements are mandatory in the multi-disciplinary approach to address co-morbidities, which if unrecognized, may be associated with reduced quality of life and even mortality. [ABSTRACT FROM AUTHOR]

Background: To investigate serum levels of brain injury markers in diabetic ketoacidosis (DKA) and the relation of these markers with clinical and radiological findings of brain injury and laboratory results. Methods: Twenty‐nine patients with DKA, 30 with type 1 diabetes mellitus (T1DM), and 35 healthy children were included. Clinical and laboratory findings, and the Glasgow Coma Scale (GCS) were recorded. In the DKA group, neuron‐specific enolase (NSE), S100 calcium‐binding protein B (S100B) and glial fibrillary acidic protein (GFAP) levels were measured at baseline and 6 and 12 hours after treatment. Magnetic resonance imaging was performed in the DKA group to demonstrate any brain injury. Results: No clinical or radiological findings of brain injury were found in any of the patients with DKA. In the DKA group, S100B was significantly higher than the healthy control and T1DM groups, while GFAP and NSE levels were not different from controls and T1DM patients. No significant differences were found in GFAP, NSE and S100B levels according to severity of DKA, diabetes duration and GCS. Conclusion: NSE and GFAP levels do not increase in DKA patients without overt brain injury. Elevated levels of S100B, which is also synthesized from non‐neuronal tissues, might arise from peripheral sources. A lack of concurrent increase in serum levels of these brain injury markers might result from the yet intact blood brain barrier or a true absence of neuronal damage. In order to reveal subclinical brain injury related to DKA, there is a need for studies concurrently assessing neurocognitive functions. [ABSTRACT FROM AUTHOR]

Background: Hereditary hypophosphatemia is a group of rare renal phosphate wasting disorders. The diagnosis is based on clinical, radiological, and biochemical features, and may require genetic testing to be confirmed. Methodology: Clinical features and mutation spectrum were investigated in patients with hereditary hypophosphatemia. Genomic DNA of 23 patients from 15 unrelated families were screened sequentially by PCR-sequencing analysis for mutations in the following genes: PHEX, FGF23, DMP1, ENPP1, CLCN5, SLC34A3 and SLC34A1. CytoScan HD Array was used to identify large deletions. Results: Genetic evaluation resulted in the identification of an additional asymptomatic but intermittent hypophosphatemic subject. Mutations were detected in 21 patients and an asymptomatic sibling from 13 families (86.6%, 13/15). PHEX mutations were identified in 20 patients from 12 families. Six of them were novel mutations present in 9 patients: c.983_987dupCTACC, c.1586+2T>G, c.1206delA, c.436+1G>T, c.1217G>T, and g.22,215,887–22,395,767del (179880 bp deletion including exon 16–22 and ZNF645). Six previously reported mutations were found in 11 patients. Among 12 different PHEX mutations, 6 were de novo mutations. Patients with de novo PHEX mutations often had delayed diagnosis and significantly shorter in height than those who had inherited PHEX mutations. Novel compound heterozygous mutations in SLC34A3 were found in one patient and his asymptomatic sister: c.1335+2T>A and c.1639_1652del14. No mutation was detected in two families. Conclusions: This is the largest familial study on Turkish patients with hereditary hypophosphatemia. PHEX mutations, including various novel and de novo variants, are the most common genetic defect. More attention should be paid to hypophosphatemia by clinicians since some cases remain undiagnosed both during childhood and adulthood. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Pediatric Research is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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. [ABSTRACT FROM AUTHOR]

Although it is known that hypoglycemia could cause severe negative effects on brain development and also infantile spasm, it has not been reported that transient hyperinsulinemic hypoglycemia, which spontaneously improves over a short time, may cause infantile spasms. Infantile spasm is a disorder of early childhood typically seen in the first year of life, characterized by the occurence of sudden, brief, generally bilateral and symetric motor spasms of the muscles of the trunk, neck and limbs. Infantile spasms are classified as idiopathic or symptomatic. The most common form symptomatic infantile spasms is due to prenatal, perinatal or postnatal insults. A 3140 g, full-term baby was admitted with poor sucking and feeding difficulty on the postnatal second day. The patient was followed-up with the diagnosis of hyperinsulinemic hypoglycemia and intravenous glucose infusion (15 mg/kg/min) was administered, but due to the persistence of hypoglycemia, diazoxide treatment was initiated. Hypoglycemia was not observed under diazoxide treatment and the drug was gradually decreased; treatment was terminated on the 21st day. The patient was continuously normoglycemic during follow-up and admitted with flexor spasms on the 45th day. A modified hypsarrhythmia pattern was detected in the electroencephalography. On cranial magnetic resonance imaging, diffuse cystic encephalomalacia areas were observed in the temporoparietal white and gray matter. The convulsions were not completely controlled with adrenocorticotropic hormone and vigabatrin treatments. Topiramate and valproate were administered, by which convulsions were partially controlled. [ABSTRACT FROM AUTHOR]

Copyright of Türk Pediatri Arşivi is the property of Aves Yayincilik Ltd. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Aim: To perform molecular analysis of pediatric maturity onset diabetes of the young (MODY) patients by next-generation sequencing, which enables simultaneous analysis of multiple genes in a single test, to determine the genetic etiology of a group of Turkish children clinically diagnosed as MODY, and to assess genotype-phenotype relationship. Methods: Forty-two children diagnosed with MODY and their parents were enrolled in the study. Clinical and laboratory characteristics of the patients at the time of diagnosis were obtained from hospital records. Molecular analyses of GCK, HNF1A, HNF4A, HNF1B, PDX1, NEUROD1, KLF11, CEL, PAX4, INS, and BLK genes were performed on genomic DNA by using next-generation sequencing. Pathogenicity for novel mutations was assessed by bioinformatics prediction software programs and segregation analyses. Results: A mutation in MODY genes was identified in 12 (29%) of the cases. GCK mutations were detected in eight cases, and HNF1B, HNF1A, PDX1, and BLK mutations in the others. We identified five novel missense mutations - three in GCK (p.Val338Met, p.Cys252Ser, and p.Val86Ala), one in HNF1A (p.Cys241Ter), and one in PDX1 (p.Gly55Asp), which we believe to be pathogenic. Conclusion: The results of this study showed that mutations in the GCK gene are the leading cause of MODY in our population. Moreover, genetic diagnosis could be made in 29% of Turkish patients, and five novel mutations were identified. [ABSTRACT FROM AUTHOR]

Objective: The study aimed to assess the effect of gonadotropin-releasing hormone (GnRH) agonist therapy on body mass index (BMI) and growth in girls diagnosed with idiopathic central precocious puberty (CPP). Materials and Methods: Hospital records of 32 girls with idiopathic CPP who have been receiving GnRH agonist therapy for at least 12 months were retrospectively reviewed and auxological, clinical and laboratory parameters of the patients were recorded. BMI, body mass index standard deviation score (BMI SDS) for chronological age body mass index standard deviation score (CA-BMI SDS), BMI SDS for bone age body mass index standard deviation score (BA-BMI SDS), ratios of obesity and overweight were assessed before treatment and on the 12th month of therapy in patients diagnosed with idiopathic CPP. Results: The study comprised of 32 girls diagnosed with idiopathic CPP. BMI values showed statistically significant increase in the 1st year of treatment (19.16 ± 2.8 vs. 20.7 ± 3.4, P = 0.001). Despite a mild increase in CA-BMI SDS in the 1st year of treatment versus before treatment, it was no statistically significant (1.0 ± 0.8 vs. 1.1 ± 0.9, P = 0.061). However, significant increase was observed in BA-BMI SDS in the 1st year of treatment versus before treatment (0.8 ± 0.7 vs. 0.4 ± 0.8, P < 0.001). Before treatment, 37.5% (12/32) of the patients were overweight and 21.9% (5/32) were obese, whereas in the 1st year, 34.4% (11/32) of the patients were overweight and 31.3% were obese (P = 0.001). Conclusion: Whilst 1/3 of the cases diagnosed with idiopathic CPP were overweight and obese at the time of diagnosis, GnRH agonist therapy caused statistically significant weight gain in patients diagnosed with CPP. Therefore, these patients should be closely monitored and weight control should be provided by diet and exercise programs in the course of treatment. [ABSTRACT FROM AUTHOR]

Maturity-onset diabetes of the young (MODY) is a group of monogenic disorders characterized by autosomal dominantly inherited non-insulin dependent form of diabetes classically presenting in adolescence or young adults before the age of 25 years. MODY is a rare cause of diabetes (1% of all cases) and is frequently misdiagnosed as Type 1 diabetes (T1DM) or Type 2 diabetes (T2DM). A precise molecular diagnosis is essential because it leads to optimal treatment of the patients and allows early diagnosis for their asymptomatic family members. Mutations in the glucokinase ( GCK) (MODY 2) and hepatocyte nuclear factor ( HNF)1A/4A (MODY 3 and MODY 1) genes are the most common causes of MODY. GCK mutations cause a mild, asymptomatic, and stable fasting hyperglycemia usually requiring no specific treatment. However, mutations in the HNF1A and HNF4A cause a progressive pancreatic β-cell dysfunction and hyperglycemia that can result in microvascular complications. Sulfonylureas are effective in these patients by acting on adenosine triphosphate (ATP)-sensitive potassium channels, although insulin therapy may be required later in life. Mutations in the HNF1B (MODY 5) is associated with pancreatic agenesis, renal abnormalities, genital tract malformations, and liver dysfunction. Compared to MODY 1, 2, 3, and 5, the remaining subtypes of MODY have a much lower prevalence. In this review, we summarize the main clinical and laboratory characteristics of the common and rarer causes of MODY. [ABSTRACT FROM AUTHOR]

Aim: In this study, it was aimed to evaluate the clinical, antropometric and laboratory findings of female patients diagnosed with central precocious puberty and to determine the laboratory value with the best diagnostic accuracy in the diagnosis of central precocious puberty. Material and Methods: Female patients whose breast development began before the age of 8 years were included in the study. The data of the patients were obtained by retrospectively examining file records. The chronogical age, age at the time of onset of the complaint, antropometric variables, bone age and hormonal tests were recorded. The patients whose bone age/chronological age ratio was >1 and in whom pubertal response was obtained to gonodotropin releasing hormone stimulation test were considered central precocious puberty and the patients who did not meet these criteria were considered premature thelarche. Receiver operating charecteristic curve (ROC) analysis was performed to determine the diagnostic accuracy of the laboratory variables. Results: Fifty one patients with idiopathic central precocious puberty and 36 patients with premature thelarche were included in the study. In the patients with central precocious puberty, the height standard deviation score, bone age and bone age/chronological age ratio were found to be significantly higher compared to the patients with premature thelarche. The basal luteinizing hormone, basal follicle stimulating hormone, basal luteinizing hormone/follicle stimulating hormone, peak luteinizing hormone, peak follicle stimulating hormone and peak luteinizing hormone/follicle stimulating hormone values were found to be significantly higher in the patients with central precocious puberty. When the cut-off value for the peak luteinizing hormone/follicle stimulating hormone ratio was taken as >0.24, the sensitivity was found to be 100% and specificity was found to be 84%. When the cut-off value for the basal follicle stimulating hormone was taken as >1.9 IU/L, the sensitivity was found to be 71% and specificity was found to be 68%. When the cut-off value for the basal luteinizing hormone was taken as >0.1 IU/L, the sensitivity was found to be 71% and specificity was found to be 64%. Conclusions : In female children, a peak luteinizing hormone/follicle stimulating hormone ratio of >0.24 can be used in the diagnosis of central precocious puberty. However, the findings should be assessed in association with the clinical and antropometric variables. [ABSTRACT FROM AUTHOR]

Objective: To evaluate i) the frequency of typical hypothyroidism symptoms in children with subclinical hypothyroidism (SH), ii) to evaluate the association of SH with lipoproteins and iii) to investigate possible improving effects of L-thyroxine (LT4) treatment on these findings. Methods: Twenty-seven children with SH who had elevated thyroidstimulating hormone (TSH: >4.94 μIU/L) but normal free T4 levels and healthy euthyroid children of similar age and sex were enrolled in the study. Anthropometric and laboratory (lipid profile and thyroid function tests) measurements were performed at diagnosis and six months after euthyroidism was achieved. All children were also subjected to a questionnaire on hypothyroid symptoms at diagnosis. The SH patients were subjected to the questionnaire also following treatment. Pre-treatment data were compared with those of controls and post-treatment measurements. Results: Anthropometric and laboratory parameters of the groups were not statistically different except for higher TSH levels in the SH group. Serum lipoprotein levels and dyslipidemia frequency were similar between the groups. Compared to the controls, hypothyroidism symptom score was significantly higher in the SH group. Six months after euthyroidism was achieved, a significant reduction in the hypothyroid symptom score was obtained in the SH group. Except for significantly higher serum TSH values, no significant differences regarding demographic characteristics, symptom scores and lipid parameters were present between patients with Hashimoto's thyroiditis and the remaining SH patients. Conclusion: The results of this study showed that in children with SH i) the hypothyroidism symptom score was significantly higher than in euthyroid children, ii) LT4 treatment improved the hypothyroidism symptom score and iii) SH does not seem to be associated with dyslipidemia. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Pediatric Research is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background/Aims: Monocarboxylate transporter 8 (MCT8) is essential for thyroid hormone (TH) transport in the brain. Mutations in MCT8 are associated with the Allan-Herndon-Dudley syndrome (AHDS), characterized by severe psychomotor retardation and altered serum thyroid parameters. Here we report two novel mutations in MCT8 and discuss the clinical findings. Case Report and Results: We describe 4 males with AHDS from two unrelated families varying in age from 1.5 to 11 years. All 4 patients presented with typical clinical signs of AHDS, including severe psychomotor retardation, axial hypotonia, lack of speech, diminished muscle mass, increased muscle tone, hyperreflexia, myopathic facies, high T3, low T4 and rT3, and normal/mildly elevated TSH levels. Comparison of patients at different ages suggests the progressive nature of AHDS. Genetic analyses identified a novel missense MCT8 mutation (p.G495A) in family 1 and a 2.8-kb deletion comprising exons 3 and 4 in family 2. Functional analysis of p.G495A revealed impaired TH transport varying from 20 to 85% depending on the cell context. Conclusion: Herewe report 4 AHDS patients in unrelated Turkish families harboring novel MCT8 mutations. Despite the widely different mutations, the clinical phenotypes are very similar and findings support the progressive nature of AHDS. © 2014 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]