Clinical Characteristics of Children with Combined Pituitary Hormone Deficiency and the Effects of Growth Hormone Treatment.

AIM: We aimed to describe the clinical characteristics of patients with congenital combined pituitary hormone deficiency (CPHD) and evaluate the first-year growth responses of individuals with CPHD and isolated growth hormone deficiency (IGHD) in order to establish the influence of other hormone deficiencies on growth response. PATIENTS AND METHODS: This retrospective study was conducted in four tertiary care centers in Turkey. The records of patients diagnosed with CPHD (n=39) and severe IGHD (n=50) were collected. Cases with acquired lesions or chronic diseases were not included in the study. Data are presented as median (interquartile range). RESULTS: Among 39 patients (13 females; 33%) with a diagnosis of CPHD, the majority of patients (64%) presented initially with combined deficits at baseline examination, whereas isolated deficiencies (36%) were less prevalent. Among all patients with GH deficiency, TSH, ACTH, FSH/LH, and ADH deficiencies were present in 94%, 74%, 44%, and 9% of patients, respectively. Patients with CPHD were diagnosed at a younger age (4.9 (8.4) vs. 11.6 (4.1), p<0.001, respectively) and had lower peak GH concentrations (0.4 (1.8) vs. 3.7 (2.9), p<0.001, respectively) than patients with IGHD. Patients with IGHD and CPHD had similar first-year growth responses (Δheight SD score of 0.55 (0.63) vs. 0.76 (0.71), respectively, p=0.45). CONCLUSIONS: We established the nature and timing of numerous hormonal deficits emerging over time. We also identified that the existence of CPHD did not hinder growth response.

Clinical, genetic characteristics and treatment outcomes of children and adolescents with osteogenesis imperfecta: a two-center experience.

BACKGROUND: 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. AIM: We aimed to evaluate the clinical, genetic characteristics, and long-term follow-up results of children and adolescents with OI. MATERIALS AND METHODS: A two-center retrospective study was conducted using demographic, clinical, and genetic data obtained from the medical records of the patients. RESULTS: 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). CONCLUSIONS: 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.

School-age obese asthmatic children have distinct lung function measures from lean asthmatics and obese children.

BACKGROUND: The lung functions of children with obese asthma seem to be distinct from those of obese children or lean asthmatics. AIM: To measure baseline lung function, exercise-induced bronchoconstriction (EIB), and bronchial hyperreactivity (BHR) in school-age obese asthmatics (OA group) and to compare the data with obese children (O group), lean asthmatics (A group), and healthy controls (H group). METHODS: One hundred seventy school-age children were enrolled in this prospective cross-sectional study. Baseline fractionated exhaled nitric oxide (FeNO), and baseline, post-exercise (post-E), and post-bronchodilation (post-BD) impulse oscillometry (IOS) and spirometry tests were performed. EIB and BHR were evaluated based on the difference (Δ) in post-E - baseline, and post-BD - baseline values. RESULTS: The mean FeNO level was higher in the OA group than in the other groups (p = 0.002). Baseline zR5 and R5-20 were higher (p = 0.013 and p = 0.044), but zFEF25-75 was lower (p < 0.01), in the OA group. ΔPost-E - baseline zFEV1 was lower in the A group (p = 0.003) but was higher in the OA group (p = 0.014) than the other groups. ΔPost-BD - baseline zFEV1 was lower in the H group compared to the other three groups (p = 0.004), but no significant difference was observed among the O, A, and OA groups (p > 0.05). CONCLUSION: Higher airway inflammation (high FeNO), peripheral airway resistance (high zR5 and zR5-20) and a lower peripheral airway flow (low FEF25-75) were observed at baseline measurement in school-age obese asthmatics compared to lean asthmatics and obese children. Obese asthmatics had no EIB but exhibited a similar BHR to that of asthmatics.

Cutaneous manifestations of obesity in Turkish children: A comparative study.

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.

Experience with Real-Time Continuous Glucose Monitoring in Newborns with Congenital Hyperinsulinemic Hypoglycemia.

BACKGROUND: Effective treatment and close monitoring of hypoglycemia in children with congenital hyperinsulinemic hypoglycemia (CHH) is vital to prevent brain damage. The current use of capillary sampling schedules does not provide a comprehensive assessment of glycemic status and fails to detect asymptomatic hypoglycemia episodes. AIM: To investigate the efficacy and accuracy of a real-time continuous glucose monitoring system (RT-CGMS) in neonates with CHH. METHODS: A sensor connected to RT-CGMS was inserted into the newborn patients and maintained for at least 6 days during their stay in the hospital. We compared the readings of CGMS with capillary blood glucose values using Bland-Altman analysis. RESULTS: A total of 110 blood glucose values were compared to readings from the CGMS. All results were calculated and plotted for CGMS values at 0-4, 5-9, 10-14, 15-19, 20-24, and 25-29 min after capillary blood glucose sampling. CGMS readings were highly correlated with blood glucose values, especially during normoglycemia. In case of hypoglycemia, the mean difference between the CGMS and capillary glucose values was higher. Although the false positive rate for hypoglycemia was relatively high in CGMS, RT-CGMS may show some episodes of hypoglycemia earlier than blood measurement. CONCLUSION: RT-CGMS is accurate during normoglycemia, and it can reduce the number of capillary blood samples in children with CHH.

Does fludrocortisone treatment cause hypomagnesemia in children with primary adrenal insufficiency?

Background/aim: Aldosterone is a mineralocorticoid that secreted from adrenal glands and a known factor to increase magnesium excretion by direct and indirect effects on renal tubular cells. Although the frequency of hypomagnesemia was found to be approximately 5% in adult studies, there is no study in the literature investigating the frequency of hypomagnesemia in children by using fludrocortisone, which has a mineralocorticoid activity. Materials and methods: A multi-center retrospective study was conducted, including children who were under fludrocortisone treatment for primary adrenal insufficiency and applied to participant pediatric endocrinology outpatient clinics. Results: Forty-three patients (58.1% male, 41.9% prepubertal) included in the study, whose median age was 9.18 (0.61-19) years, and the most common diagnosis among the patients was a salt-wasting form of congenital adrenal hyperplasia (67.4%). Mean serum magnesium level was 2.05 (±0.13) mg/dL, and hypomagnesemia was not observed in any of the patients treated with fludrocortisone. None of the patients had increased urinary excretion of magnesium. Conclusion: Unlike the studies performed in adults, we could not find any evidence of magnesium wasting effect of fludrocortisone treatment with normal or even high doses in children and adolescents.

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.

Gingival crevicular fluid levels of interleukin-18 and tumor necrosis factor-alpha in type 1 diabetic children with gingivitis.

OBJECTIVE: This study aimed to evaluate the levels of interleukin-18 and tumor necrosis factor-alpha in gingival crevicular fluid of diabetic children with gingivitis. METHODOLOGY: Eighty-eight children (44 with type 1 diabetes mellitus and 44 systemically healthy) were recruited for the study. The children were divided into four subgroups based on their periodontal and systemic condition: (1) systemically and periodontally healthy children (H), (2) systemically healthy children with gingivitis (G), (3) periodontally healthy children with T1DM (T1DM + H), and (4) children with T1DM and gingivitis (T1DM + G). The plaque index, gingival index, probing pocket depth, and GCF volume were recorded. The IL-18 and TNF-α levels in GCF were determined by ELISA. RESULTS: The clinical periodontal parameters, GCF IL-18 level, and TNF-α level were similar between diabetic and systemically healthy children (p > 0.05). The gingivitis subgroups had a significantly higher GI, PI, PPD, GCF volume, and TNF-α total amounts than the H subgroups (p < 0.0001). The IL-18 concentrations in the gingivitis subgroups were significantly lower than in the periodontally healthy subgroups. CONCLUSIONS: In diabetic children with good metabolic control, T1DM did not affect the GCF levels of IL-18 and TNF-α in the presence of gingivitis. However, increased GCF TNF-α levels in children with gingivitis confirm that TNF-α is closely related to gingival inflammation. CLINICAL RELEVANCE: Type 1 diabetes mellitus is not associated with GCF interleukin-18 and tumor necrosis factor-alpha levels in children with gingivitis.

Is Thyroid Imaging Reporting and Data System Useful as an Adult Ultrasonographic Malignancy Risk Stratification Method in Pediatric Thyroid Nodules?

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.

Brain injury markers: S100 calcium-binding protein B, neuron-specific enolase and glial fibrillary acidic protein in children with diabetic ketoacidosis.

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.

Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome.

To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P < 0.001). The mean birth length was 1.3 cm shorter and mean birth weight was 0.36 kg lower than that of the normal population. The mean age at diagnosis was 10.1 ± 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1 ± 1.7, -1.4 ± 1.5, and 0.4 ± 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P = 0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups.

Isolated hyperthyrotropinemia in childhood obesity and its relation with metabolic parameters.

PURPOSE: The aim of the presented study was to evaluate the prevalence of isolated hyperthyrotropinemia (IH) in obese children and the relation between anthropometric and metabolic parameters. METHODS: Hospital records of the children, who presented to the Pediatric Endocrinology outpatient clinic of our institution with obesity, and age and gender-matched healthy children, who had undergone thyroid function test for any reason were retrospectively reviewed. RESULTS: The prevalence of IH was significantly higher in the obese group than in the controls (9.2 and 3.8 %, respectively). Body mass index-standard deviation score (BMI-SDS), thyroid-stimulating hormone (TSH), lipid parameters were significantly different in the obese group than in the control group. A positive correlation between TSH and BMI-SDS and negative correlation between TSH and free T4 (fT4) levels were found in obese subjects. Stepwise multiple linear regression analysis confirmed that BMI-SDS, fT4 and triglyceride levels were the strongest independent variables correlated with TSH level in obese subjects (r (2) = 0.046, p = 0.001). CONCLUSIONS: IH prevalence is higher in obese children as compared to healthy children and the increase in TSH level correlates negatively with serum fT4 and positively with BMI-SDS and triglyceride levels in obese children.

Assessment of Thyroid Gland in Children with Point-of-Care Ultrasound (POCUS): Radiological Performance and Feasibility of Handheld Ultrasound in Clinical Practice.

Background: 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. This study aimed to investigate the radiological performance and feasibility of POCUS using a handheld ultrasound (HHUSD) system in children from the perspective of the thyroid gland perspective. Material-Methods: A pediatric endocrinologist performed thyroid imaging in children referred to our hospital with suspected thyroid disease using an HHUSD system. The same children underwent 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)]; 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 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, incorporates the HHUSD as a routine tool for clinical examinations in outpatient settings, they can effectively assess normal thyroid tissue in pediatric patients. Moreover, the HHUSD system proves to be useful in detecting thyroid pathologies. However, it is crucial 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.

Thyroid volume in Turkish school-age children living in an iodine-sufficient region.

OBJECTIVES: 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 Aydin province. METHODS: 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 Aydin 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). RESULTS: 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. CONCLUSIONS: 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.

The Effect of Childhood Obesity on Intraocular Pressure, Corneal Biomechanics, Retinal Nerve Fiber Layer, and Central Macular Thickness.

PRCIS: Elevated corneal hysteresis (CH) and resistance factor (CRF) in obese and overweight children imply weight's effect on corneal biomechanics. Increased Goldmann-correlated intraocular pressure (IOPg) in obese children indicates glaucoma risk, emphasizing screening for IOP and retinal changes. PURPOSE: To evaluate the effect of obesity on corneal biomechanics, retinal nerve fiber layer (RNFL), and central macular thickness (CMT) in children. PATIENTS AND METHODS: In this prospective, cross-sectional, comparative study, 146 eyes of normal-weight, over-weight, and obese children aged between 6 to 17 years were evaluated. The IOPg, corneal compensated IOP (IOPcc), CH, CRF, and the average retinal nerve fiber layer (RNFL), average cup-to-disk ratio (c/d), and central macular thickness (CMT) were measured by Ocular Response Analyser and Spectral-Domain Optical Coherence Tomography (SD-OCT), respectively. RESULTS: There was no statistically significant difference regarding age, gender, IOPcc, average RNFL thickness, c/d ratio, and CMT among the groups ( P ≥0.05). The IOPg was significantly higher in obese children compared with normal-weight children, while CH and CRF values were significantly higher in both obese and over-weight children compared with healthy ones ( P <0.05). There was a positive correlation between BMI percentile and IOPg, CH, and CRF values. CONCLUSION: In our study, higher IOPg, corneal hysteresis, and corneal resistance factor values suggest that obese children could be potential candidates for glaucoma. Therefore, it would be appropriate to screen them for IOP and retinal alterations. Further investigations with larger sample size and longer follow-up are needed to understand the risk of glaucoma in obese children.

Associations of Adipocyte-derived Versican and Macrophage-derived Biglycan with Body Adipose Tissue and Hepatosteatosis in Obese Children

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.

Genetic Findings in Short Turkish Children Born to Consanguineous Parents.

INTRODUCTION: The diagnostic yield of genetic analysis in the evaluation of children with short stature depends on associated clinical characteristics, but the additional effect of parental consanguinity has not been well documented. METHODS: This observational case series of 42 short children from 34 consanguineous families was collected by six referral centres of paediatric endocrinology (inclusion criteria: short stature and parental consanguinity). In 18 patients (12 families, group 1), the clinical features suggested a specific genetic defect in the growth hormone (GH) insulin-like growth factor I (IGF-I) axis, and a candidate gene approach was used. In others (group 2), a hypothesis-free approach was chosen (gene panels, microarray analysis, and whole exome sequencing) and further subdivided into 11 patients with severe short stature (height <-3.5 standard deviation score [SDS]) and microcephaly (head circumference <-3.0 SDS) (group 2a), 10 patients with syndromic short stature (group 2b), and 3 patients with nonspecific isolated GH deficiency (group 2c). RESULTS: In all 12 families from group 1, (likely) pathogenic variants were identified in GHR, IGFALS, GH1, and STAT5B. In 9/12 families from group 2a, variants were detected in PCNT, SMARCAL1, SRCAP, WDR4, and GHSR. In 5/9 families from group 2b, variants were found in TTC37, SCUBE3, NSD2, RABGAP1, and 17p13.3 microdeletions. In group 2c, no genetic cause was found. Homozygous, compound heterozygous, and heterozygous variants were found in 21, 1, and 4 patients, respectively. CONCLUSION: Genetic testing in short children from consanguineous parents has a high diagnostic yield, especially in cases of severe GH deficiency or insensitivity, microcephaly, and syndromic short stature.

Comprehensive Insights into Pediatric Craniopharyngioma: Endocrine and Metabolic Profiles, Treatment Challenges, and Long-term Outcomes with a Multicenter Approach.

Introduction: Craniopharyngiomas (CPG) have complex challenges in treatment due to their proximity to vital structures, surgical and radiotherapeutic complexities, and the tendency for recurrence. This study aims to identify the prevalence of endocrine and metabolic comorbidities observed during initial diagnosis and long-term follow-up in a nationwide cohort of pediatric CPG patients. The study also highlights the associated difficulties in their management. Methods: Sixteen centers entered 152 patients into the ÇEDD NET data system. We evaluated the clinical and laboratory characteristics at presentation, administered treatments, accompanying endocrine, metabolic, and other system involvements, and the patient's follow-up features. Results: Of the evaluated patients, 64 were female, and 88 were male. At presentation, the mean age was 9.1 ± 3.67 (min:1.46-max:16.92) years. The most common complaints at presentation were headache (68.4%), vision problems (42%), short stature (15%), nausea and vomiting (7%). The surgical procedure applied to the patients was gross total resection (GTR) in 97 cases (63.8%) and subtotal resection in 55 cases (36.2%). Radiotherapy was initiated in 11.8% of the patients. In the pathological examination, 92% of the cases were adamantinamatous type, 8% were papillary type. Postoperatively, hormone deficiencies consisted of thyroid-stimulating hormone (92.1%), adrenocorticotropic hormone (81%), antidiuretic hormone (79%), growth hormone (65.1%), and gonadotropin (43.4%) deficiencies. Recombinant growth hormone treatment (rhGH) was initiated on 27 patients. The study showed hesitancy among physicians regarding rhGH. The median survival without relapse was 2.2 years. Median time of relapse was 1.82 years (range: 0.13-10.35 years). Relapse was related to longer follow-ups and reduced GTR rates. The median follow-up time was 3.13 years. Among the last follow-up visits, the prevalence of obesity was 38%, but of these, 46.5% were already obese at diagnosis. However, 20% who were not obese at baseline became obese on follow-up. Permanent visual impairment was observed in 26 patients, neurological deficits in 13 patients, and diabetes mellitus in 5 patients. Conclusion: Recurrence was predominantly due to incomplete resection and the low rate of postoperative radiotherapy. It also emphasized challenges in multidisciplinary regular follow ups and suggested early interventions such as dietary restrictions and increased exercise to prevent obesity.

The relation of serum nesfatin-1 level with metabolic and clinical parameters in obese and healthy children.

BACKGROUND: Nesfatin-1, a recently discovered anorexigenic neuropeptide, is expressed in several tissues including pancreatic islet cells and central nervous system. This peptide seems to play an important role in hypothalamic pathways regulating food intake and energy homeostasis. OBJECTIVE: We aimed to investigate the relation of serum nesfatin-1 level with metabolic and anthropometric parameters in obese children. METHODS: The study included obese children with a body mass index (BMI) above the 95th percentile and healthy children with a BMI below the 85th percentile. The healthy and obese subjects had similar age and gender distribution. Fasting serum glucose, insulin, lipid profile, and nesfatin-1 levels were measured to evaluate metabolic parameters. RESULTS: Obese group (n = 37) had significantly higher BMI, BMI-SDS (standard deviation score of BMI), triglyceride, insulin, and insulin resistance index by the homeostasis model assessment, systolic and diastolic blood pressure values compared with the control group (n = 31) (p < 0.05). Serum nesfatin-1 level of the obese subjects was significantly lower than that of the control subjects (p = 0.001). No statistically significant difference was found when nesfatin-1 levels were compared among obese patients regarding the presence of insulin resistance (p = 0.202). In the obese group, nesfatin-1 level was negatively correlated with BMI-SDS, but not with insulin resistance index (p = 0.02 and p = 0.361, respectively). CONCLUSIONS: This is the first study to evaluate nesfatin-1 levels in relation with anthropometric and metabolic parameters in obese patients who had significantly lower nesfatin-1 levels. Our results underline that nesfatin-1 may play an important role in regulation of food intake in obese individuals.