The Association Between Anthropometric Findings and Hormonal Values in Obese and Overweight Children

INTRODUCTION: Obesity is an energy metabolism disorder that occurs with excessive fat storage in the body and can cause physical and mental problems. In this study; It was aimed to investigate the relationship between anthropometric findings and hormonal values in obese and overweight children. METHODS: The data was retrospectively collected by reviewing the files of 742 children with obesity and overweight diagnoses who were followed up in Pediatric Endocrinology Clinic between 2010-2011. For all cases age, gender and anthropometric measurements are recorded. Fasting blood glucose, insulin, c-peptite, total cholesterol, trigliseride, LDL-cholesterol, VLDL cholesterol, HDL cholesterol, IGF-1 and IGFBP3 values are evaluated. Insulin resistance is calculated by HOMA-IR RESULTS: Of those included in the study, 534 were obese and 208 were overweight. In pubertal period, an increase in HOMA-IR and fasting insulin levels was observed in obese group compared to overweight group. In the prepubertal period, no significant difference was observed between obese and overweight groups in terms of bone age, while in the obese group, bone age was significantly higher in the pubertal period than in overweight group. At the same time the bone age in obese children with BMI and body weight were found to be significantly correlated in a positive direction. DISCUSSION AND CONCLUSION: Considering that obesity and overweight increase growth rate and bone maturation, decrease growth rate in puberty, short target length, dyslipidemia and future cardiovascular complications, it is very important to prevent childhood obesity in the early period

Clinical and Laboratory Characteristics of Hyperprolactinemia in Children and Adolescents: National Survey

Conclusion: We present the largest cohort of children and adolescents with hyperprolactinemia in the literature to date. Hyperprolactinemia is more common in females and cabergoline is highly effective and practical to use in adolescents, due to its biweekly dosing. Indications for surgery in pediatric cases need to be revised

Volume CXIV, Number 4, November 7, 1996

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population.Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014.Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%.Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespa

A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene

Familial hypocalciuric hypercalcemia (FHH) is a benign disease associated with heterozygous inactivating mutations in the calcium-sensing receptor (CaSR) gene. This article presents a girl with heterozygous p.Cys575Tyr variation in the CaSR gene. The serum calcium level of a 9.2-year-old girl was 12.4mg/dl in incidental laboratory analysis. On the same occasion, the serum parathyroid hormone (PTH) level was 45 pg/ml, 25(OH) vitamin D level 24.2ng/ml, 1.25 dihydroxy vitamin D level 22pg/ml, and urinary Ca/creatinine ratio A) variation was detected in the patient's CaSR gene, which was reported before, but no clinical manifestations were specified. In children with asymptomatic hypercalcemia, the diagnosis of FHH should be considered if the PTH level is normal or high and the urinary calcium is low. [Med-Science 2022; 11(4.000): 1731-3

Novel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre Study

Objective: Non syndromic monogenic obesity is a rare cause of early onset severe obesity in the childhood period. This form may not be distinguishable from other forms of severe obesity without genetic analysis, particularly if patients do not exibit any physical abnormalities or developmental delay. The aim of this study was to screen 41 different obesity-related genes in children with nonsyndromic early onset severe obesity. Methods: Children with severe (body mass index-standard deviation score >3) and early onset (<7 years) obesity were screened by next-generation sequencing based, targeted DNA custom panel for 41 known-obesity-related genes and the results were confirmed by Sanger technique. Results: Six novel variants were identified in five candidate genes in seven out of 105 children with severe obesity; two in SIM1 (p.W306C and p.Q36X), one in POMC (p.Y160H), one in PCSK1 (p.W130G fs Ter8), two in MC4R (p.D126E) and one in LEPR (p.Q4H). Additionally, two previously known variations in MC4R were identified in four patients (p.R165W in three, and p.V166I in one). Conclusion: We identified six novel and four previously described variants in six obesity-related genes in 11 out of 105 childrens with early onset severe obesity. The prevalence of monogenic obesity was 10.4% in our cohort.Inonu University Research Fundation, Malatya, TurkeyInonu University [TSG-2018-1137]This project was supported by Inonu University Research Fundation, Malatya, Turkey, project number: TSG-2018-1137

Diagnostic Value of Bilateral Petrosal Sinus Sampling in Children with Cushing Disease: A Multi-center Study

Objective: Although the sensitivity and specificity of bilateral inferior petrosal sinus sampling (BIPSS) were shown to be quite high in adult patients, pediatric studies are limited in number and have conflicting results, since BIPSS is much less commonly performed in children. The aim of this study was to assess the role of BIPSS in the detection and accuracy of lateralization of pituitary adenomas in pediatric patients with Cushing disease (CD) and its possible advantage over other diagnostic methods. Methods: This was a multicenter, nationwide, web-based study. The diagnostic value of BIPSS in 16 patients, aged between four and 16.5 years with a confirmed diagnosis of CD, was evaluated retrospectively. The sensitivity and specificity of BIPSS and magnetic resonance imaging (MRI) were calculated, and compared statistically. Results: Standard tests, except for morning cortisol level, were effective in proving the presence of Cushing syndrome. While MRI findings were consistent with microadenoma in eight cases (50%), CD presence and lateralization was successfully predicted in 14 of 16 patients using BIPSS. BIPSS compared with MRI examination was significantly more accurate, both in pre-stimulation and post -stimulation results (p=0.047 and p=0.041, respectively). BIPSS showed a significantly higher sensitivity (92.8%) than MRI in detecting the pituitary source of adrenocorticotropic hormone secretion. Conclusion: These results suggest that BIPSS is superior to MRI for diagnostic work-up to confirm the diagnosis of CD. Moreover, in line with previous studies, BIPSS was shown to provide better information about adenoma location, which is vital for possible surgical intervention

Diagnostic and therapeutic approach in newborns with ambiguous genitale with disorder of sex development: consensus report of Turkish Neonatal and Pediatric Endocrinology and Diabetes Societies

WOS: 000484450300020PubMed ID: 31236033Disorders of sex development are defined as conditions in which the chromosomal, gonadal, and anatomic sex is discordant. Patients usually present with atypical appearing genitalia. In the assessment of neonates with disorders of sex development, first, it is important to determine whether this situation requires prompt evaluation, and then the karyotype, hormone levels, and underlying etiology should be determined as soon as possible. All these procedures should be performed in the guidance of a multidisciplinary team in reference centers. As the physical examination of the infant is extremely important, the physcian should suspect and then perform a detailed history and physical examinationi and lastly plan the required laboratory and imaging procedures for the definite diagnosis. It is important not to be hurried in the choice of sex. The aim of this article, which includes the diagnostic and therapeutic approaches in infants with ambiguous genitalia, was to provide a common practice for all pediatricians

The Etiology and Clinical Features of Non-CAH Gonadotropin-Independent Precocious Puberty: A Multicenter Study

WOS: 000378819700011PubMed ID: 26964727Aim: The causes of gonadotropin-independent precocious puberty are diverse, and often have overlapping clinical and biochemical features. With the exception of congenital adrenal hyperplasia (CAH), disorders that cause gonadotropin-independent precocious puberty (GIPP) are uncommon. The literature is devoid of any large-scale studies on the etiologic distribution of GIPP. The aim of this study was to determine the frequency of each etiology in a cohort of patients with GIPP (excluding those with CAH), and to evaluate the clinical and laboratory features of these patients. Materials and Methods: This multicenter, nationwide web-based study collected data on patients who presented with non-CAH GIPP in Turkey. Results: Data were collected for 129 patients (102 girls and 27 boys) from 29 centers. Based on the data collected, the estimated prevalence of non-CAH GIPP in the studied population was 14 in 1 000 000 children. Functional ovarian cyst was the most common etiology, accounting for 37% of all cases, followed by McCune-Albright syndrome (MAS) (26%). Among the patients with MAS, 11.7% had fibrous dysplasia, 32.3% had caf-au-lait spots, and 52.9% had both. Human chorionic gonadotrophin-secreting tumors included choriocarcinoma of the liver, hepatoblastoma, and germ cell tumors of the sellar-suprasellar region and mediastinum. Patients with adrenocortical tumors presented at an earlier age than those with other etiologies. Ovarian tumors included mature cystic teratoma, dysgerminoma, juvenile granulosa tumor, and steroid cell tumor. Despite overlapping features, it was possible to identify some unique clinical and laboratory features associated with each etiology. Conclusion: This largest cohort of patients with non-CAH GIPP to date yielded an estimation of the frequency of non-CAH GIPP in the general pediatric population and showed that girls were affected at a rate 4-fold greater than that of boys owing to functional ovarian cysts and MAS, which were the two most common etiologies. The data collected also provided some unique characteristics associated with each etiology.Turkish Pediatric Endocrinology and Diabetes Society [052014]This work was supported by the Turkish Pediatric Endocrinology and Diabetes Society (No: 052014)

Novel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre Study

Objective: Non syndromic monogenic obesity is a rare cause of early onset severe obesity in the childhood period. This form may not be distinguishable from other forms of severe obesity without genetic analysis, particularly if patients do not exibit any physical abnormalities or developmental delay. The aim of this study was to screen 41 different obesity-related genes in children with nonsyndromic early onset severe obesity. Methods: Children with severe (body mass index-standard deviation score >3) and early onset (<7 years) obesity were screened by next-generation sequencing based, targeted DNA custom panel for 41 known-obesity-related genes and the results were confirmed by Sanger technique. Results: Six novel variants were identified in five candidate genes in seven out of 105 children with severe obesity; two in SIM1 (p.W306C and p.Q36X), one in POMC (p.Y160H), one in PCSK1 (p.W130G fs Ter8), two in MC4R (p.D126E) and one in LEPR (p.Q4H). Additionally, two previously known variations in MC4R were identified in four patients (p.R165W in three, and p.V166I in one). Conclusion: We identified six novel and four previously described variants in six obesity-related genes in 11 out of 105 childrens with early onset severe obesity. The prevalence of monogenic obesity was 10.4\% in our cohort