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Summary: Background: Childhood obesity is an increasing health challenge related to increased risk of chronic diseases. microRNAs (miRNAs) are noncoding short RNA molecules regulating multiple biological processes linked to obesity. Objectives: We aimed at evaluating the association between circulating miRNA levels and lipid metabolism in obese and non‐obese children and adolescents. Methods: By constituting study group, 45 obese children and adolescents were recruited. To perform comparisons with study group, 41 lean controls were matched for age and sex. Using real‐time quantitative PCR analysis, circulating miRNAs were evaluated in both groups. Results: Circulating miR‐335 (P < 0.001), miR‐143 (P = 0.001) and miR‐758 (P = 0.006) in obese children were significantly lower than those of controls. However, circulating miR‐27 (P = 0.032), miR‐378 (P < 0.001) and miR‐370 (P = 0.045) in obese children were significantly higher, compared with those of controls. In addition, circulating miR‐33 in obese children was higher than those of controls, but no significant difference was present (P = 0.687). Conclusion: Our findings showed that a significant association is present between circulating miR‐370, miR‐33, miR‐378, miR‐27, miR‐335, miR‐143 and miR‐758 values, and childhood obesity. Low levels of miR‐335, miR‐143 and miR‐758, and high levels of miR‐27, miR‐378, miR‐33 and miR‐370 may have been responsible for elevated triglycerides and low‐density lipoprotein (LDL‐C) levels, and low level of high‐density lipoprotein (HDL‐C) in obese subjects. Therefore, miRNAs may be a good novel biomarker for childhood obesity. [ABSTRACT FROM AUTHOR]

Describes cases of hemorrhagic shock and encephalopathy syndrome (HSE) among infants in Izmir, Turkey. Occurrence of watery diarrhea and vomiting in infants; Detection circulatory collapse in all cases; Abnormality of the coagulation tests.

Purpose: 17α Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of pubertal delay and hypertension. This study aimed to determine the clinical and laboratory characteristics of 17OHD cases and gather data on disease management., Methods: Data from 97 nationwide cases were analyzed using the CEDD-NET web system. Diagnostic, follow-up findings, and final heights of patients were evaluated., Results: Mean age at admission was 13.54 ± 4.71 years, with delayed puberty as the most common complaint. Hypertension was detected in 65% at presentation; hypokalemia was present in 34%. Genetic analysis revealed Exon 1-6 homozygous deletion as the most frequent mutation, identified in 42 cases. Hydrocortisone replacement was universal; pubertal replacement was administered to 66 cases. Antihypertensive treatment was required in 57 (90%) patients. Thirty-seven cases reached final height, with an average SD of 0.015 in 46,XX and -1.43 in 46,XY. Thelarche and pubarche did not develop properly in some cases despite estradiol treatment., Conclusion: This study represents the largest cohort of pediatric cases of 17-hydroxylase deficiency (17OHD) documented in the literature. Hypertension and hypokalemia can serve as guiding indicators for early diagnosis.The final height is typically considered to be normal. The relationship between genotype and phenotype remains elusive. The initial genetic test for exon 1-6 deletions may be MLPA in our region., (© 2024. The Author(s).)

Background: Metabolic syndrome leading to type 2 diabetes mellitus and cardiovascular diseases is a chronic multifactorial syndrome, associated with low-grade inflammation status. In our study, we aimed at assessing the serum levels of follistatin (FST), pregnancy-associated plasma protein-A (PAPP-A), and platelet/endothelial cell adhesion molecule-1 (PECAM-1) in adolescent patients with metabolic syndrome., Methods: This study was performed in 43 (19 males, 24 females) metabolic syndrome adolescents and 37 lean controls matched for age and sex. The serum levels of FST, PECAM-1, and PAPP-A were measured by using ELISA method., Results: Serum FST and PAPP-A levels in metabolic syndrome were significantly higher than those of controls (p < 0.005 and p < 0.05). However, there was no difference in serum PECAM-1 levels between metabolic syndrome and control groups (p = 0.927). There was a significant positive correlation between serum FST and triglyceride (r = 0.252; p < 0.05), and PAPP-A and weight, (r = 0.252; p < 0.05) in metabolic syndrome groups. Follistatin was determined statistically significant in both univariate (p = 0,008) and multivariate (p = 0,011) logistic regression analysis., Conclusions: Our findings indicated a significant relationship between FST and PAPP-A levels and metabolic syndrome. These findings offer the possibility of using these markers in diagnosis of metabolic syndrome in adolescents as the prevention of the future complications.

Background: The aim of our study was to assess left and right ventricle systolic and diastolic functions in female adolescents with vitamin D deficiency using conventional echocardiography and pulsed-wave tissue Doppler imaging and to investigate carotid intima media thickness and asymmetric dimethylarginine levels., Methods: Sixty-six female adolescents were enrolled in this study. The female adolescents were divided into a vitamin D deficiency group (n: 34) and a control group (n: 32). All subjects underwent laboratory blood tests, including asymmetric dimethyl arginine, complete two-dimensional, pulse, and tissue Doppler echocardiography, and measurement of the carotid intima-media thickness., Results: The vitamin D-deficient female adolescent group had normal left and right ventricle systolic and diastolic functions and normal global systolic and diastolic myocardial performance. In the patients with vitamin D deficiency, the carotid intima-media thickness was higher than that in the controls. In the patients within the vitamin D deficiency group, vitamin D was found to be positively correlated with magnesium and negatively correlated with phosphorus and left atrial dimension., Conclusions: The results of this study demonstrate that vitamin D deficiency in female adolescence is associated with normal myocardial geometry and function. Although it has been associated with normal levels of asymmetric dimethyl arginine concentration, high measured carotid intima-media thickness may reflect endothelial dysfunction.

Aim: We aimed to investigate molecular genetic basis of monogenic diabetes (DM) and novel responsible candidate genes with targeted Next Generation Sequencing (NGS) and Whole Exome Sequencing (WES)., Methods: A hundred cases presenting with clinical findings and a family history of monogenic DM were included in the study. Molecular analysis was performed using an NGS panel including 14 genes. Following targeted NGS, WES was planned in cases in whom no variant was detected., Results: Thirty different disease-causing variants in seven different genes were detected in thirty-five (35 %) cases with targeted NGS approach. Most common pathogenic variant was found in GCK gene in 25 (25 %) cases. Four different variants were detected in 4 (4 %) patients in ABCC8 gene. In 45 of 65 cases; WES analyses were done. A heterozygous c.2635C > T(p.Gln879Ter) variant was detected in IFIH1 gene in a patient with incidental hyperglycemia. In the segregation analysis affected mother was shown to be heterozygous for the same variant., Conclusion: Molecular etiology was determined in 35 % cases with the NGS targeted panel. Seventeen novel variants in monogenic DM genes have been identified. A candidate gene determined by WES analysis in a case that could not be diagnosed with NGS panel in this study., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier B.V. All rights reserved.)

Background: Given the rarity of 11β-hydroxylase deficiency (11βOHD), there is a paucity of data about the differences in clinical and biochemical characteristics of classic (C-11βOHD) and nonclassic 11βOHD (NC-11βOHD)., Objective: To characterize a multicenter pediatric cohort with 11βOHD., Method: The clinical and biochemical characteristics were retrospectively retrieved. CYP11B1 gene sequencing was performed. Seventeen plasma steroids were quantified by liquid chromatography-mass spectrometry and compared to that of controls., Results: 102 patients (C-11βOHD, n = 92; NC-11βOHD, n = 10) from 76 families (46,XX; n = 53) had biallelic CYP11B1 mutations (novel 9 out of 30). Five 46,XX patients (10%) were raised as males. Nineteen patients (19%) had initially been misdiagnosed with 21-hydroxylase deficiency. Female adult height was 152 cm [-1.85 SD score (SDS)] and male 160.4 cm (-2.56 SDS).None of the NC-11βOHD girls had ambiguous genitalia (C-11βOHD 100%), and none of the NC-11βOHD patients were hypertensive (C-11βOHD 50%). Compared to NC-11βOHD, C-11βOHD patients were diagnosed earlier (1.33 vs 6.9 years; P < 0.0001), had higher bone age-to-chronological age (P = 0.04) and lower adult height (-2.46 vs -1.32 SDS; P = 0.05). The concentrations of 11-oxygenated androgens and 21-deoxycortisol were low in all patients. The baseline ACTH and stimulated cortisol were normal in NC-11βOHD. Baseline cortisol; cortisone; 11-deoxycortisol; 11-deoxycorticosterone and corticosterone concentrations; and 11-deoxycortisol/cortisol, 11-deoxycorticosterone/cortisol, and androstenedione/cortisol ratios were higher in C-11βOHD than NC-11βOHD patients (P < 0.05). The 11-deoxycortisol/cortisol ratio >2.2, <1.5, and <0.1 had 100% specificity to segregate C-11βOHD, NC-11βOHD, and control groups., Conclusion: NC-11βOHD can escape from clinical attention due to relatively mild clinical presentation. However, steroid profiles enable the diagnosis, differential diagnosis, and subtyping of 11βOHD., (© The Author(s) 2021. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Objective: The aim of this study was to evaluate the importance of growth-differentiation factor-15 level and tissue Doppler imaging in the detection of cardiomyopathy in children who have type 1 diabetes mellitus., Materials and Methods: Thirty-eight patients (11 males and 27 females) with type 1 diabetes mellitus were included in this study. The control group consisted of 40 age- and gender-matched healthy volunteers. All children underwent a detailed echocardiography, which contained an m-mode, pulse Doppler and tissue Doppler imaging; and growth-differentiation factor-15 level was measured., Results: In this study, there were significant differences between diastolic function parameters of the heart. The mitral isovolumic contraction time, contraction time, and isovolumic relaxation time values were different in the patients than in the controls (p<0.01, p<0.01, p<0.01, respectively). Also, the tricuspid isovolumic contraction time, contraction time, and isovolumic relaxation time values were different in the patients than in the controls (p<0.01, p=0.01, p<0.01, respectively). No statistically significant difference was found between the other M-mode parameters. Mean plasma growth-differentiation factor-15 level was significantly higher in patients than in healthy controls (p<0.01)., Conclusion: The follow-up of children with type 1 diabetes mellitus in terms of cardiomyopathy and the use of tissue Doppler imaging and growth differentiation factor-15 levels may be useful., Competing Interests: The authors declare that they have no conflict of interest., (Thieme. All rights reserved.)

Objective: Subclinical hypothyroidism, defined as increased TSH serum levels and normal serum free T4 concentrations, has been associated with an increased risk of heart disease in adults. But, data in children and adolescents are scanty and treatment of subclinical hypothyroidism is controversial. Growth differentiation factor-15 (GDF-15) is a promising biomarker of cardiac remodeling. This study aimed to evaluate the cardiovascular risk factors in children with subclinical hypothyroidism, measured with tissue Doppler echocardiography (TDE), and conventional echocardiography and GDF-15 level., Methods: The study comprised a total of 41 pediatric patients with subclinical hypothyroidism (SH) (mean age 9.6 ± 4.7 years) and 31 healthy children (mean age 11.2 ± 3.4 years) as the control group. Subclinical hypothyroidism was defined as a thyroid-stimulating hormone level higher than 4 mIU/l and a normal free-thyroxine level (0.6-1.8 ng/dl). Tissue Doppler echocardiography was performed to all individuals in the control group and patient group at the beginning of the study. Global systolic function as assessed by left ventricular ejection fraction was compared between groups. The serum GDF-15 level was measured., Results: There were no significant differences in demographic parameters between the SH and control groups. The left ventricular internal diameter end systole, interventricular septal end diastole, left ventricular posterior wall end diastole, and tricuspid annular plane systolic excursion values were significantly different between the SH and control groups (p = 0.038, 0.028, 0.005, and 0.000, respectively). The mean mitral isovolumic relaxation time value of the SH group was 57.2 ± 9.3 ms, compared to 44.5 ± 5.6 ms for the control group (p = 0.000). The mean tricuspid isovolumic contraction time value of the SH group was 58.7 ± 9.4 ms, and that of the control group was 45.1 ± 5.3 ms (p = 0.000). The mean tricuspid isovolumic relaxation time value of the SH group was 58.03 ± 9.5 ms, and that of the control group was 45.1 ± 5.3 ms (p = 0.000). There were no significant differences in the other m-mode or pulse Doppler echocardiography values between two groups. The GDF-15 value of the SH group was 382.6 ± 268.2 pg/mL, and that of the control group was 473.6 ± 337.9 pg/mL; this difference was not significant., Conclusion: Patients with subclinical hypothyroidism versus healthy individuals had some changes in echocardiographic parameters that indicate involvement of diastolic function of the left ventricle. They were significantly different when compared SH group and the control group. This study demonstrated ventricle diastolic dysfunction in pediatric patients with hypothyroidism. The results of our study suggest that cardiac follow-up may be useful in patients with subclinical hypothyroidism and clinical trials are needed to explore therapeutic effects of T4 and T3 administration in this patients.

PurposeThe aim of our study was to assess left ventricle and right ventricle systolic and diastolic functions in obese adolescents with metabolic syndrome using conventional echocardiography and pulsed-wave tissue Doppler imaging and to investigate carotis intima-media thickness, and asymmetric dimethyl arginine levels., Methods: A total of 198 obese adolescents were enrolled in the study. The obese patients were divided into metabolic syndrome group and non-metabolic syndrome group. All subjects underwent laboratory blood tests, including asymmetric dimethyl arginine, complete two-dimensional, pulsed, and tissue Doppler echocardiography, and measurement of the carotid intima-media thickness., Results: Obese adolescents were characterised by enlarged left end-diastolic, end-systolic and left atrial diameters, thicker left and right ventricular walls compared with non-obese adolescents. The metabolic syndrome group had normal left ventricle systolic function, impaired diastolic function, and altered global systolic and diastolic myocardial performance. In the metabolic syndrome obese group patients, left ventricle mass was found positively correlated with body mass index, waist and hip circumferences, diastolic blood pressure, age, and waist-to-hip circumference ratio. The carotid intima-media thickness was found positively correlated with waist and hip circumferences and total cholesterol levels. Asymmetric dimethyl arginine levels were found positively correlated with systolic blood pressure, waist-to-hip circumference ratio, and diastolic blood pressure., Conclusions: The results of this study demonstrate that metabolic syndrome in adolescence is associated with significant changes in myocardial geometry and function. In addition, it has been associated with a high level of asymmetric dimethyl arginine concentration and thicker carotid intima-media thickness reflecting endothelial dysfunction.

Objective: Obesity may reduce sertoli cell functions in men. The aim of the study was to investigate antimullerian hormone (AMH) and inhibin B levels (sertoli cell markers) in obese boys and their relations to cardiovascular risk factors such as insulin sensitivity index, aortic intima media thickness (aIMT) and high sensitive c-reactive protein (hsCRP)., Patients, Methods: 121 obese and 38 healthy lean adolescents were included in the study. Serum AMH, inhibin B, gonadotropins, total testosterone, lipids, hsCRP, glucose and insulin levels were detected and analyzed. Insulin resistance was analyzed using the homeostasis model assessment (HOMA-IR). aIMT was measured by high-resolution B-mode ultrasonography., Results: Serum AMH, inhibin B and total testosterone levels were lower in the obese adolescents (p=0.01, p=0.009 and p=0.002, respectively). aIMT measurements (p<0.001, 0.63±0.09 and 0.47±0.06 mm, respectively) and hsCRP levels (p<0.001, 2.5±0.4 and 0.66±0.69 mg/L, respectively) were significantly increased in the obese group. Obese with IR group had decreased AMH levels (p=0.02, 53.0±20.5 and 66.7±19.5 ng/mL, respectively) and increased triglycerides, HOMA-IR, aIMT measurements than non-IR obese group. AMH levels were correlated negatively with body mass index (r:-0.108, p=0.03), HOMA-IR (r:-0.358, p=0.003) and fasting insulin levels (r:-0.389, p=0.001) in obese group with IR., Conclusion: We found that concentrations of both sertoli cell markers (AMH and inhibin B) were significantly lower in obese pubertal boys especially in obese with IR. Obesity and IR might be important factors for the sertoli cell impairment in pubertal boys., Competing Interests: The authors declare that they have no conflict of interest., (© Georg Thieme Verlag KG Stuttgart · New York.)

Background and Aim: Excess visceral fat accumulation results in altered release of adipokines. The aim of this study was to examine the relationship between new adipokines (omentin-1 and vaspin), insulin resistance, and serum inflammatory markers in obese subjects with metabolic syndrome (MS)., Patients and Methods: The study included a total of 121 obese children (79 females and 42 males, aged 12-17 years old). The obese subjects were divided into two groups based on the presence or absence of MS criteria (MS group and non-MS group). Serum omentin-1, vaspin, and high-sensitivity C-reactive protein (CRP) were measured in addition to the other glucose metabolism parameters., Results: MS was diagnosed in 45 obese children and 76 children did not meet the MS criteria. Serum omentin-1 (289.5 ± 51.9 ng/mL vs. 268.2 ± 60 ng/mL, P = 0.03) levels were significantly lower in the MS group compared to the non-MS group. Serum vaspin levels (1058.3 ± 118 pg/mL vs. 1178.6 ± 158 pg/mL, P = 0.02) were higher in the MS group than the non-MS group. CRP levels correlated well with both the adipokines (r = -0.236, P = 0.04 for omentin-1 and r = 0.296, P = 0.008 for vaspin), although these adipokines did not show statistically significant correlations with fasting glucose-insulin levels, homeostasis model assessment of insulin resistance, and 2 hr postload glucose level., Conclusions: Higher vaspin and lower omentin-1 levels were determined in obese MS children compared to non-MS children and these adipokines were significantly correlated with high CRP values. These data support the view that adipokines in MS children contribute to increased inflammation markers before abnormal glucose metabolism.

Background & Objectives: Obesity is known for low-grade inflammatory state with enhanced production of inflammatory mediators in children and adolescents. Soluble urokinase plasminogen activator receptor (suPAR) can be generated as a pro-inflammatory marker. This study was conducted to evaluate the role of suPAR, and its association with leptin, adiponectin, interleukin-6 (IL-6), high-sensitive C-reactive protein (hsCRP) and fibrinogen in adolescent obesity., Methods: A total of 98 participants, 55 obese individuals and 43 healthy controls, aged between 10 and 17 yr, were included in the study. Serum suPAR, IL-6, leptin and adiponectin were measured using ELISA method., Results: Serum suPAR, IL-6, fibrinogen, hsCRP and leptin levels in obese individuals were significantly higher than those of controls (P<0.05 & P<0.001). Serum adiponectin levels in obese individuals were significantly lower than those of controls (P<0.01)., Interpretation & Conclusions: Our findings showed that suPAR, IL-6, fibrinogen, hsCRP and leptin were significantly higher in the obese individuals than those of controls. suPAR may be a good novel biomarker for systemic subclinical inflammation and immune activation linked to adolescent obesity.

Background: Metabolic syndrome (MetS) is a chronic and multifactorial syndrome characterized by a low-grade chronic inflammation, and a major risk factor for type 2 diabetes mellitus (T2DM) and cardiovascular disease (CVD). In our study, we aimed to investigate the serum levels of high sensitive C-reactive protein (hs-CRP), haptoglobin (Hp), α2-macroglobulin (α2-MG), platelet factor-4 (PF-4), fetuin-A, serum amyloid P (SAP) and α1-acid glycoprotein (AGP) in an adolescent population with MetS., Methods: This study was performed in 43 (18 males, 25 females) MetS adolescents between the ages of 13 and 17 years (14.70±1.15) and 43 lean controls were matched for age and sex. The serum levels of Hp, α2-MG, PF-4, fetuin-A, SAP and AGP were measured by using a multi-ELISA technique., Results: Serum Hp, fetuin-A (p<0.01) and PF-4, hs-CRP, SAP, AGP (p<0.001) values of the MetS subjects were significantly higher than those of the controls. No difference was found in serum α2-MG levels between the MetS and control groups (p=0.184)., Conclusions: This finding suggests the possibility of using these markers in diagnosis of MetS in adolescents to prevent future complications.

Background: Iodine is a part of thyroid hormones and has been reported to act directly as an antioxidant or induce indirectly antioxidant enzymes. This study aimed to assess the urinary iodine concentration and its relationship between the antioxidant and oxidative stress capacity in healthy school-aged children., Methods: In total, 196 students from five primary schools, randomly selected between 9 and 12 years (mean age: 10.2±1.2 years), were enrolled in the study. Urinary iodine levels were measured by spectrophotometry with the Sandell-Kolthoff reaction. Total antioxidant status (TAS) and total oxidant status (TOS) were analysed from urine samples. The ratio of TOS to TAS was regarded as an oxidative stress index (OSI), an indicator of the degree of oxidative status., Results: Fifty-four percentage (107) of the children had iodine deficiency (ID) and the majority of them (30%) had mild ID. There was no severe-ID child in the population (<20 μg/L). Urine TAS levels were significantly lower in the moderate-ID group than in the mild-ID group (6.5±4.1 vs. 11.3±4.1 mmol, p<0.001) and the iodine-sufficient group (11.0±5.3 μmol, p<0.001). TOS levels and OSI were found higher in the moderate-ID group than in the mild-ID group (4.8±2.1 vs. 3.7±2.1 μmol, p<0.001) and the iodine-sufficient group (4.8±2.1 vs. 3.4±2.5 mmol, p<0.001). In the moderate-ID group, low urine iodine levels exhibited significant negative correlations with OSI (r=-0.660) and TOS (r=-0.248) and a positive correlation with TAS (r=0.475)., Conclusions: We found that children with moderate ID were exposed to more oxidative burden than children with mild ID or iodine sufficiency. Increased systemic oxidative stress induced by moderate ID could cause development of ID-related complications and diseases. Iodine supplementation could have a beneficial role in the prevention of oxidative stress.

Background: Lifestyle factors sleep duration and media time during childhood differ between countries. This study examined whether sleep duration and media time affect metabolic risk factors insulin resistance (IR), blood lipid profile, and liver enzymes, and whether there is a relationship between sleep time and media time in Turkish obese children and adolescents., Methods: Subjects included 108 obese children and adolescents (aged 10-15 years) whose lifestyle factors were assessed using a survey containing questions about sleep durations, television viewing, media use, and demographic factors. Metabolic risk factors were compared among groups categorized according to sleep and media duration., Results: Aspartate aminotransferase (AST), alanine aminotransferase (ALT), and triglyceride (TG) levels and homeostasis model assessment of insulin resistance (HOMA-IR) values were higher in subjects who spent >5 hours/day on media. Children 10-13 years old who slept <9 hours/day were more likely to have higher insulin and HOMA-IR (p < 0.05) levels and lower high-density lipoprotein cholesterol (HDL-C) levels compared with subjects who slept 9-10 hours/day and >10 hours/day. Correlation analysis revealed a negative relationship between sleep time and media time (r = -0.471, p = 0.000)., Conclusions: Short sleep duration was associated with IR and an elevated plasma lipoprotein profile in children and adolescents. Our results suggest that insufficient sleep and excessive media exposure may contribute to metabolic risk in the context of obesity, and therefore, working to improve sleep duration and limit media time could help reduce metabolic risk in obese children and adolescents.

Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, often with overlapping clinical and biochemical features. The relative prevalence of these conditions is not known, but making a specific diagnosis can have important implications for management., Objective: The objective of the study was to investigate the clinical and molecular genetic characteristics of a nationwide cohort of children with PAI of unknown etiology., Design: A structured questionnaire was used to evaluate clinical, biochemical, and imaging data. Genetic analysis was performed using Haloplex capture and next-generation sequencing. Patients with congenital adrenal hyperplasia, adrenoleukodystrophy, autoimmune adrenal insufficiency, or obvious syndromic PAI were excluded., Setting: The study was conducted in 19 tertiary pediatric endocrinology clinics., Patients: Ninety-five children (48 females, aged 0-18 y, eight familial) with PAI of unknown etiology participated in the study., Results: A genetic diagnosis was obtained in 77 patients (81%). The range of etiologies was as follows: MC2R (n = 25), NR0B1 (n = 12), STAR (n = 11), CYP11A1 (n = 9), MRAP (n = 9), NNT (n = 7), ABCD1 (n = 2), NR5A1 (n = 1), and AAAS (n = 1). Recurrent mutations occurred in several genes, such as c.560delT in MC2R, p.R451W in CYP11A1, and c.IVS3ds+1delG in MRAP. Several important clinical and molecular insights emerged., Conclusion: This is the largest nationwide study of the molecular genetics of childhood PAI undertaken. Achieving a molecular diagnosis in more than 80% of children has important translational impact for counseling families, presymptomatic diagnosis, personalized treatment (eg, mineralocorticoid replacement), predicting comorbidities (eg, neurological, puberty/fertility), and targeting clinical genetic testing in the future.

Studies performed on mice suggest that adropin is a peptide hormone playing a role in metabolic homeostasis and prevention of obesity-associated insulin resistance. Our study was conducted to investigate the role of adropin in children with obesity or metabolic syndrome. The study group consisted of 70 patients, including 42 obese and 28 with metabolic syndrome, and 26 healthy volunteers. After anthropometric variables and blood pressure of all participants were measured, serum lipids were analyzed, liver USG and oral glucose tolerance test were performed, and HOMA-IR values were calculated. Plasma adropin levels were collectively analyzed from collected plasma samples. In patient and control groups, no difference was observed in the levels of adropin (327.7±124.7 vs. 344.6±208.5 ng/L, respectively). The adropin levels of metabolic syndrome, obesity, and control groups also showed no difference (316±142.3, 335.8±112.5, and 344.6±208.5 ng/L, respectively). While the adropin levels of patients with and without hepatic steatosis were 319.6±123.7 and 347.8±128.7 ng/L, respectively, patients with HOMA-IR values of <3.16 and ≥3.16 had levels 342.3±124.8 and 296.5±136.7 ng/L, respectively. Although statistically insignificant, our findings are considered to support the hypothesis suggesting a nexus between adropin and obesity and metabolic syndrome. Small sample size in our study may have prevented our results to reach a more significant level. So, long-term follow-up studies with large population are needed to enlighten the role of adropin in metabolic homeostasis.

Malignant infantile osteopetrosis is a rarely seen severe disorder which appears early in life with general sclerosis of the skeleton. It is caused by functionally defective osteoclasts which fail to resorb bone. Affected infants can exhibit a wide spectrum of clinical manifestations including impaired hematopoiesis, hepatosplenomegaly, visual impairment, and hypocalcemia. With the exception of secondary hyperparathyroidism, involvement of the endocrine system seems to be quite rare. Hypopituitarism is defined as underproduction of the growth hormone in combination with deficiencies of other pituitary hormones. Any lesion that damages hypothalamus, pituitary stalk, or anterior pituitary can cause secondary hypopituitarism. In this report, we presented a rare combination of malignant infantile osteopetrosis and secondary hypopituitarism in a newborn who presented predominantly with endocrinological symptoms. This is the first case report of malignant infantile osteopetrosis accompanied by hypopituitarism secondary to sclerosis of the sella turcica. On the other hand, this is a very interesting case which was diagnosed based on histological examination of bone marrow biopsy specimens despite lack of any clinical suspicion.

The previously reported activated intravascular coagulation system in the acute phase of respiratory distress syndrome (RDS) has not been evaluated in the long term. We assessed the activities of coagulation system of a cohort of premature infants with RDS in comparison with healthy premature infants (HPIs), healthy mature infants (HMIs), and pediatric laboratory controls over a 6-month period. Cord and venous blood samples were taken at birth, at the first month and sixth month. Protein C (PC), free protein S (f-PS), and antithrombin (AT) activities, thrombin-antithrombin (TAT) complex, prothrombin fragment 1 + 2 (PF1 + 2), and fibrinogen levels were measured. Mean PC, f-PS, d-dimer, and fibrinogen values were similar at all periods for HPI and RDS groups. Low neonatal anticoagulant proteins increased within 6 months in HMI and HPI groups. However, in RDS group, the AT activity remained significantly lower together with significantly higher TAT and PF1 + 2 levels both at the first month and at sixth month, suggesting a long-term consumption coagulopathy.

The prevalence of obesity among children and adolescents has been rapidly increasing in recent years. Obese individuals are at risk for vitamin D deficiency. The aim of this study was to investigate the relation of vitamin D deficiency with puberty and insulin resistance in obese children and adolescents. A total of 106 children and adolescents (48 prepubertal and 58 pubertal) between 8 and 16 years of age were included in the study. Fasting blood glucose, insulin, lipid profile, calcium, phosphorus, alkaline phosphatase, parathyroid hormone, 25-hydroxyvitamin D [25(OH)D] levels, as well as blood glucose and insulin concentrations at 120 min of oral glucose tolerance test were measured. Insulin resistance was calculated using the homeostasis model assessment. Daily vitamin D intake was questioned. Serum 25(OH)D level was normal in only 3.8%, insufficient in 34.0%, and deficient in 62.2% of the subjects. There was a statistically significant rate of 25(OH)D deficiency in the pubertal group compared with that in the prepubertal group. Those subjects with 25(OH)D deficiency were found to have greater insulin resistance. Vitamin D deficiency is common among obese children and adolescents. Low vitamin D levels in obese individuals may accelerate the development of metabolic syndrome, type 2 diabetes mellitus, and cardiovascular disease by further increasing insulin resistance.

To determine the impact of glargine insulin therapy with different nutritional models on key parameters of diabetes including quality of life, behavior in children and adolescents with type 1 diabetes. Age, duration of diabetes, HbA1c, anthropometric data and episodes of severe hypoglycemia were taken from patients' charts. Diabetes quality of life scale and childhood behavior checklist questionnaires were given to each child at the start and at the end of 6 months. Mean age when starting on glargine insulin was 15.5 +/- 3. 8 years. Duration of diabetes was 7.1 +/- 4.3 years. About 14 of the patients chose to be in the carbohydrate counting group, whereas 24 of them continued with exchange meal plan as nutritional model. There was a reduction in HbA1c levels from 7.86 to 7.1% in the carbohydrate group and 8.8 to 8.0% in the exchange meal plan group. Total daily insulin dose did not change in both of the groups. BMI did not change in both of the groups. Diabetes-related worries decreased in carbohydrate group. No change was found in the behavior scores in both of the groups at the end of the study period. The use of glargine therapy among adolescents with type 1 diabetes was associated with improved overall glycemic control.

The aim of this study was to assess the association between metabolic control, microalbuminuria, and diabetic nephropathy with ambulatory blood pressure monitoring (ABPM) in normotensive individuals with type 1 diabetes mellitus (DM). ABPM was undertaken in 68 normotensive type 1 diabetic patients with a mean age of 14.4+/-4.2 years. Microalbuminuria was diagnosed on the basis of a urinary albumin excretion rate grater than 20 microg/min in two of the three 24-h urine collections. Hypertension (HT) frequency was greater in the microalbuminuric patients than normoalbuminuric patients (54 vs 17.54%, p=0.05) with ABPM. Microalbuminuric patients had a higher diastolic pressure burden than normoalbuminuric patients. There were no differences in systolic and diastolic dips between the two groups. Diastolic pressure loads in all periods showed a significant correlation with duration of diabetes, mean HbA1c from the onset of diabetes, and level of microalbuminuria. Nocturnal dipping was reduced in 41.2% of the patients. In the normoalbuminuric group 41.1% and in the microalbuminuric group 63.6% were nondippers. Our data demonstrate higher 24-h and daytime diastolic blood pressure load and loss of nocturnal dip in type 1 diabetic adolescents and children. High diastolic blood pressure burden in diabetic patients could represent a risk for nephropathy.