17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.

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.

Clinical and Laboratory Characteristics of MODY (Maturity Onset Diabetes of Young) Cases, Genetic Mutation Spectrum and Phenotype-genotype Relationship.

Objective: Maturity-onset diabetes of the young (MODY) occurs due to mutations in genes involved in pancreatic beta cell function and insulin secretion, has heterogeneous clinical and laboratory features, and account for 1-5% of all diabetes cases. The prevalence and distribution of MODY subtypes vary between countries. The aim of this study was to evaluate the clinical and laboratory characteristics, mutation distribution, and phenotype-genotype relationship in a large case series of pediatric Turkish patients genetically diagnosed with MODY. Methods: MODY cases from 14 different pediatric endocrinology departments were included. Diagnosis, treatment, follow-up data, and results of genetic analysis were evaluated. Results: A total of 224 patients were included, of whom 101 (45%) were female, and the mean age at diagnosis was 9.4±4.1 years. Gene variant distribution was: 146 (65%) GCK; 43 (19%) HNF1A; 8 (3.6%) HNF4A, 8 (3.6%) KLF11 and 7 (3.1%) HNF1B. The remaining 12 variants were: PDX (n=1), NEUROD1 (n=3), CEL (n=1), INS (n=3), ABCC8 (n=3) and KJNC11 (n=1). Of the cases, 197 (87.9%) were diagnosed with incidental hyperglycemia, 16 with ketosis (7%) and 7 (3%) with diabetic ketoacidosis (DKA), while 30% presented with classical symptoms of diabetes. Two-hundred (89%) had a family history of diabetes. Anti-GAD antibody was detected in 13 cases, anti-islet antibody in eight and anti-insulin antibody in four. Obesity was present in 16. Distribution of therapy was: 158 (71%) diet only; 23 (11%) intensive insulin treatment; 17 (7.6%) sulfonylureas; 10 (4.5%) metformin; and 6 (2.7%) insulin and oral antidiabetic treatment. Conclusion: This was the largest genetically diagnosed series from Turkey. The most common gene variants were GCK and HNF1A with much lower proportions for other MODY types. Hyperglycemia was the most common presenting symptom while 11% of patients had diabetes-associated autoantibodies and 7% were obese. The majority of patients received dietary management only.

Early breast development in girls: the power of greyscale sonography and sonoelastography.

OBJECTIVE: Accurate distinction between central pubertal precociousness (PP) and premature thelarche (PT) is important to guide treatment. Both greyscale ultrasonography (US) and sonoelastography can be used to examine breast tissue. The aim of this study is to investigate the performance of breast US and strain elastographic (SE) in the diagnosis of increased breast volume in girls. METHODS: Sixty-three girls with breast development up to 8 years of age and diagnosed with PP and PT were included in the prospective study. Basal luteinizing hormone (LH), follicle-stimulating hormone (FSH), and estradiol (E2) values were obtained. Each bud was considered as a unit in US. Mediolateral (ML) and anteroposterior diameters (AP) were measured, and US grading was performed. Breast SE was examined, and strain index (SI) was calculated. US and laboratory findings were compared. RESULTS: Of the 121 buds examined, 39 (32.2%) were with PP (6.97 ± 2.44 years) and 82 (67.8%) were with PT (6.51 ± 2.52 years). Diameters were correlated with bone age, LH, FSH, and US grade. The mean AP showed a moderate difference in favour of PP between the groups (P < .06). The mean ML was higher in PP (P < .01). There was a difference in mean SI values (P < .004). Sensitivity and specificity were 71% and 61% for ML and 72% and 56% for SI, respectively. CONCLUSION: Both ML and US grading may help discriminate PP from PT. The role of sonoelastography requires further investigation. ADVANCES IN KNOWLEDGE: Ultrasound and SE show significant differences between PP and PT, but these are not sufficiently reliable to be of clinical use. The contribution of sonoelastography requires further study before it can be recommended. However, SI of breast tissue can be helpful in distinguishing PP and PT from other causes of early increase in breast volume.

Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor.

Testicular adrenal rest tumor (TART) is one of the important complications that can cause infertility in male patients with congenital adrenal hyperplasia (CAH) and should therefore be diagnosed and treated at an early age. The factors that result in TART in CAH have not been completely understood. The aim of this study is to evaluate the genotype-phenotype correlation in CAH patients with TART. METHOD: Among 230 malepatients with CAH who were followed upwith regular scrotal ultrasonography in 11 different centers in Turkey, 40 patients who developed TARTand whose CAH diagnosis was confirmed by genetic testing were included in this study. Different approaches and methods were used for genotype analysis in this multicenter study. A few centers first screened the patients for the ten most common mutations in CYP21A2 and performed Sanger sequencing for the remaining regions only if these prior results were inconclusive while the majority of the departments adopted Sanger sequencing for the whole coding regions and exon-intron boundaries as the primary molecular diagnostic approach for patients with either CYP21A2 orCYP11B1 deficiency. The age of CAH diagnosis and TART diagnosis, type of CAH, and identified mutations were recorded. RESULTS: TART was detected in 17.4% of the cohort [24 patients with salt-wasting (SW) type, four simple virilizing type, and one with nonclassical type with 21-hydroxylase (CYP21A2) deficiency and 11 patients with 11-beta hydroxylase (CYP11B1) deficiency]. The youngest patients with TART presenting with CYP11B1 and CYP21A2 deficiency were of 2 and 4 years, respectively. Eight different pathogenic variants in CYP21A2were identified. The most common genotypes were c.293-13C>G/c.293-13C>G (31%) followed by c.955C>T/c.955C>T(27.6%) and c.1069C>T/c.1069C>T (17.2%). Seven different pathogenic variants were identified in CYP11B1. The most common mutation in CYP11B1 in our study was c.896T>C (p.Leu299Pro). CONCLUSION: We found that 83% TART patients were affected with SW typeCYP21A2 deficiency,and the frequent mutations detected were c.955C>T (p.Gln319Ter), c.293-13C>G in CYP21A2 and c.896T>C (p.Leu299Pro) inCYP11B1. Patients with CYP11B1 deficiency may develop TART at an earlier age. This study that examined the genotype-phenotype correlation in TART may benefit further investigations in larger series.

Clinical Characteristics of 46,XX Males with Congenital Adrenal Hyperplasia

Objective: To retrospectively evaluate the follow-up data in patients with 46,XX congenital adrenal hyperplasia (CAH) who were raised male. Methods: A national database was created. The data of patients were asked to be recorded in the data form. Results: The median (range) age of diagnosis was three (0.1-18.3) years in 44 patients. Twenty nine cases were diagnosed after the age of two years. Most (95.4%) cases were stage 4-5 virilized. Hysterectomy and bilateral salpingoopherectomy, at a median age of 7.25 (2.4-25.3) years, was performed in 35 cases. Testicular prostheses were placed in 11 (25%) cases at a median age of 11.2 (2.8-17) years. The median final height was 149.2 (132.8-172) cms in 38 patients, including simple virilizing (n=18), salt-wasting (n=6), and 11-beta hydroxylase (n=12). Of the 16 patients above the age of eighteen, university education was completed in 25%. Conclusion: It was seen that most (65.9%) of the 46,XX CAH cases raised male were diagnosed after two years of age. In these cases, hysterectomy and bilateral salpingoopherectomy, genital corrective surgeries and testicular prosthesis operations were performed in a very wide age rage.

Assessment of thyroid gland vascularity with superb microvascular imaging in healthy children and its relationship with potential factors.

Objectives To define thyroid gland vascularity index (VI) values in healthy children with the superb microvascular imaging (SMI) method and to assess whether or not there is a correlation with potential factors that may affect these values. Methods This prospective study included a total of 138 children, their ages varying from 3-17 years. Cases were divided into three subgroups according to age: 3-6, 7-12 and 13-17 years. Gender, age, height, weight, body mass index (BMI), thyroid-stimulating hormone (TSH) and free thyroxine (fT4) values were recorded. Volume and SMI measurements were performed with a 14 L5 mHz linear transducer. VI measurements were performed in the transverse and longitudinal planes and correlation with basic descriptive data was researched. Results Mean age was 11.14 ± 3.34 years and BMI was 19.95 ± 4.92. VI values were 4.59 ± 2.34 in the right lobe and 4.23 ± 2.73 for the left lobe, with no significant difference identified. There were no significant differences in mean VI for all parenchyma regarding gender and age groups. While there was no correlation identified with mean VI for all parenchyma with TSH and fT4, there was, however, a negative correlation with BMI. Conclusions Reference VI values for normal thyroid glands in healthy children and adolescents were defined with the SMI method. There was no correlation between the VI values and age, gender, volume, TSH and fT4 values, while there was a negative significant correlation with BMI.

Assessment of thyroid gland elasticity with shear-wave elastography in Hashimoto's thyroiditis patients.

PURPOSE: We aimed to investigate the use and effectiveness of Shear-Wave Elastography (SWE) in Hashimoto's Thyroiditis (HT) diagnosis and compare the SWE values in HT patients with asymptomatic volunteers. METHODS: The thyroid gland parenchyma of 74 patients whose clinical and laboratory findings and ultrasonography (US) features were indicative of HT and 75 healthy, asymptomatic participants with normal laboratory values were examined using SWE. Their thyroid parenchymal echoes and thyroid gland volume were measured using B-mode US examination. Elastographic measurements were made by plotting the boundaries of thyroid gland by hand, using Free Region of Interest (ROI). The quantitative SWE values [meters/second (m/s) and kilopascal (kPa)] were compared betweent the patients and the controls. The correlation analyses between the SWE measurements and the autoantibodies [Anti-thyroid peroxidase antibody (TPOAbs) and anti-thyroglobulin antibodies (TgAbs)], thyroid-stimulating hormone (TSH), freetriiodothyronine (fT3), free-thyroxine (fT4), and thyroglobulin levels were performed. RESULTS: The mean thyroid SWE measurement values of HT group were significantly higher than the asymptomatic group (p < 0.001). This study proposes 29.45 kPa or 2.77 m/s as a sensitive-spesific cut-off value for HT. We revealed significant positive association between SWE values and TgAb levels, gland volume, TgAb, TPOAb levels, and a significant negative association between SWE and echogenicity (p < 0.001). CONCLUSION: In the assessment of HT, SWE is a highly sensitive imaging method to estimate the degree of fibrosis and to provide objective numerical values.

Nationwide Turkish Cohort Study of Hypophosphatemic Rickets

Objective: Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options. Methods: Here we present nationwide initial and follow-up data on HR. Results: From 24 centers, 166 patients were included in the study. Genetic analysis (n=75) showed PHEX mutation in 80% of patients. The mean follow-up period was 6.7±2.4 years. During the first 3-years of treatment (n=91), mild increase in phosphate, decrease in alkaline phosphatase and elevation in parathyroid hormone (PTH) levels were detected. The height standard deviation scores were -2.38, -2.77, -2.72, -2.47 at initial, 1st, 2nd and 3rd year of treatment, respectively (p>0.05). On follow-up 36% of the patients showed complete or significant improvement in leg deformities and these patients had similar phosphate levels at presentation with better levels in 1st and 2nd years of treatment; even the treatment doses of phosphate were similar. Furthermore, 27 patients developed nephrocalcinosis (NC), the patients showed no difference in biochemical differences at presentation and follow-up, but 3rd year PTH was higher. However, higher treatment doses of phosphate and calcitriol were found in the NC group. Conclusion: HR treatment and follow-up is challenging and our results showed higher treatment doses were associated with NC without any change in serum phosphate levels, suggesting that giving higher doses led to increased phosphaturia, probably through stimulation of fibroblast growth factor 23. However, higher calcitriol doses could improve bone deformities. Safer and more efficacious therapies are needed.

Quantitative Assessment of Thyroid Gland Vascularization With Vascularization Index Using Color Superb Microvascular Imaging in Pediatric Patients With Hashimoto Thyroiditis.

The study aimed to investigate the effectiveness of the vascularization index (VI) obtained using superb microvascular imaging (SMI) technique in the diagnosis of Hashimoto thyroiditis (HT). The thyroid glands of 80 patients with HT and 107 healthy, asymptomatic participants were examined using SMI. The thyroid parenchyma echogenicity was evaluated, and the thyroid gland volume was measured. Vascularization index measurements were performed by manually drawing the contours of the thyroid parenchyma using the free region of interest with color 2-dimensional SMI VI mode. The quantitative VI values of the patients and the asymptomatic group were compared. Correlations between VI values and thyroid autoantibodies and thyroid hormone levels were analyzed. The mean VI value of the thyroid gland was 4.74% ± 1.96% in the asymptomatic group and 12.45% ± 5.87% in HT patients with a statistically significant difference (P < 0.001). Hashimoto thyroiditis can be diagnosed with 86.3% sensitivity and 82.2% specificity when 6.00% VI value was designated as the cutoff value. There was a positive significant correlation between the VI value and the thyroid-stimulating hormone, antithyroglobulin antibodies, anti-thyroid peroxidase antibody levels (P < 0.05); however, no significant correlation was found between the VI values and thyroglobulin and free thyroxine levels (P > 0.05). There was a significant negative correlation between the VI values and the parenchyma echogenicity and positive significant correlation between the thyroid gland volume and the antithyroglobulin antibody and anti-thyroid peroxidase antibody levels (P < 0.05). The VI obtained using the SMI technique can be effectively used as an imaging method for the diagnosis of HT because of its high sensitivity and specificity in representing objective, quantitative numerical values.

The effect of obesity and insulin resistance on macular choroidal thickness in a pediatric population as assessed by enhanced depth imaging optical coherence tomography.

BACKGROUND: The purpose of this study was to evaluate the macular choroidal thickness in obese children with and without insulin resistance (IR). METHODS: Thirty-six patients with obesity and 26 healthy volunteers were included in this cross-sectional study. The choroidal thickness was measured with enhanced depth imaging optical coherence tomography (EDI-OCT) at the fovea and at positions 500 µm, 1000 µm, 1500 µm nasal and temporal to the fovea. The choroidal thickness measurements of the groups were compared and the correlation between the homeostasis model assessment of insulin resistance (HOMA-IR) and choroidal thickness values was evaluated. RESULTS: The average choroidal thickness in the obese group was significantly lower than that of controls at locations 1000 µm (303.31±58.52 vs. 340.58±69.47, p=0.026) and 1500 µm (284.14±65.06 vs. 336.85±71.37, p=0.004) temporal to the fovea. A subgroup analysis depending on the presence of IR revealed that the choroidal thickness measurements at all positions were thinner in obese children without IR compared to children with IR and healthy controls. This thinning reached a statistical significance at locations 500 µm temporal, 1000 µm temporal and 1500 µm temporal to the fovea (p=0.03, p=0.009 and p=0.006; respectively). There was a moderate correlation between the choroidal thickness measurements and HOMA-IR values (r-values between 0.37 and 0.48; p<0.05). CONCLUSIONS: Our results suggest that obesity and IR may have an influence on the choroidal thickness in children. Longitudinal studies will clarify whether these choroidal changes are progressive and are a sign of microvascular dysfunction in childhood obesity.

The Growth Characteristics of Patients with Noonan Syndrome: Results of Three Years of Growth Hormone Treatment: A Nationwide Multicenter Study.

OBJECTIVE: Noonan syndrome (NS) is a multisystem disorder, and short stature is its most striking manifestation. Optimal growth hormone (GH) treatment for NS is still controversial. In this study, using a nationwide registration system, we aimed to evaluate the growth characteristics and the clinical features of NS patients in Turkey and their growth response to GH treatment. METHODS: Children and adolescents with a diagnosis of NS were included inthe study. Laboratory assessment including standard GH stimulation test results were evaluated. Height increment of patients with or without GH treatment were analyzed after three years of therapy. RESULTS: A total of 124 NS patients from different centers were entered in the web-based system. Short stature and typical face appearance were the most frequently encountered diagnostic features of our patients. Of the 84 patients who were followed long-term, 47 hadreceived recombinant human GH (rhGH). In this group of 47 patients, height standard deviation score (HSDS) increased from -3.62±1.14 to -2.85±0.96 after three years of therapy, indicating significant differences from the patients who did not receive GH treatment. PTPN11 gene was analyzed in 61 patients, and 64% of these patients were found to have a mutation. HSDS at admission was similar in patients with or without PTPN11 gene mutation. CONCLUSION: A diagnosis of NS should be kept in mind in all patients with short stature showing systemic clinical findings. GH therapy is effective for improvement of short stature especially in the first two years of treatment. Further studies are needed for optimisation of GH therapy and evaluation of final height data in NS patients.

Evaluation of Periaortic Adiposity and Metabolic Disorders in Obese Children.

OBJECTIVE: To evaluate the relationship between periaortic fat thickness (PAFT) and parameters involved in the development of metabolic complications of the cardiovascular system in obese children and to assess the usefulness of echocardiographic measurements of PAFT in correlation with cardiovascular risk factors. METHODS: The study was conducted with 263 obese and 100 healthy children and adolescents. PAFT was measured with echocardiography method which was recently performed in obese children and adolescents. RESULTS: PAFT was significantly higher in the obese group (0.258±0.031 mm) than in the control group (0.137±0.032 mm) (p<0.001). In multivariable regression analysis, body mass index-standard deviation score and total body fat were predictors of PAFT. The area under the receiver operating characteristic curve was 0.989 and was quite significant at p<0.001. PAFT above 0.179 mm was determined as the cut-off value in obese children and adolescents (sensitivity=1, specificity=0.97). CONCLUSION: The measurement of PAFT in obese children and adolescents may be a good method to reveal the presence of early cardiovascular risk.

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.

Prediabetes and Cardiovascular Parameters in Obese Children and Adolescents.

OBJECTIVE: In this study, our aim was to determine cardiovascular risk and cardiac function in prediabetic obese children and adolescents. METHODS: The study was conducted on 198 obese children and adolescents 6-18 years of age. Anthropometric measurements, blood pressure measurements, oral glucose tolerance test, lipid profile, and HbA1c levels of patients were assessed. Prediabetes was defined according to American Diabetes Association criteria. Left ventricular mass index (LVMi), carotid intima-media thickness (c-IMT), and tissue Doppler measurements records were used. RESULTS: LVMi was found to be significantly higher in the prediabetes group (p=0.03). There were no statistically significant differences in right ventricular tissue Doppler measurements between the prediabetic and non-prediabetic groups. Left ventricular tissue Doppler measurements were significantly higher in the prediabetes group: LVEEM (left ventricular E/e ratio) (p=0.04); LVEM (left ventricular myocardial velocity cm/s) (p=0.035). LVMi was found to positively correlate with triglyceride level, diastolic blood pressure, waist circumference, body weight standard deviation score and to negatively correlate with high-density lipoprotein cholesterol (p=0.043, r=0.15; p=0.039, r=0.15; p=0.025, r=0.17; p=0.009, r=0.19; p=0.038, r=-0.15, respectively). LVEM was correlated with glucose (p=0.046, r=0.15) and LVEEM was correlated with systolic blood pressure (p=0.035, r=0.15). In linear regression analysis for clinical cardiovascular risk factors, fasting glucose level was the best predictor of LVEM. CONCLUSION: In this study, deterioration of cardiac function in prediabetic obese children and adolescents was shown. We recommend determining cardiovascular risk and cardiac dysfunction at early stages in prediabetic obese children and adolescents.

The 46XX Ovotesticular Disorders of Sexual Development with Dismorphic Features.

BACKGROUND: Ovotesticular disorders of sexual development (OT-DSD) represent a rare sex development disorder characterized by the presence of both ovarian and testicular tissues in the same or the contralateral gonad. CASE: We present the case of a 14-year-old female patient with signs of virilization at a pubertal age and with dysmorphic features, diagnosed as 46,XX OT-DSD. CONCLUSION: We want to point out that patients with 46 XX OT-DSD may present with virilization at puberty and may be accompanied by dysmorphic features.

Ambulatory blood pressure and subclinical cardiovascular disease in patients with congenital adrenal hyperplasia: a preliminary report.

OBJECTIVE: There is an increased risk of cardiovascular morbidity in children and adolescents with classical congenital adrenal hyperplasia (CAH), presumably associated with obesity, hypertension, impaired glucose tolerance and dyslipidemia. This study was designed to evaluate the metabolic and cardiovascular profile of a group of children with classical CAH from the perspective of cardiovascular risk. METHODS: Twenty-five CAH patients and 25 healthy controls were included in the study. Metabolic and anthropometric parameters were investigated and compared in these two groups. RESULTS: Subjects in the CAH group were shorter than the controls (p=0.001) and had higher body mass index values (p=0.033). Diastolic blood pressure (DBP) (p=0.027) and carotid intima-media thickness (CIMT) values (p=0.006) were also higher in the patient group. In 24% (n=6) of CAH patients, 24-h ambulatory BP monitoring showed arterial hypertension. CIMT was significantly higher in the hypertensive patients than in those with no hypertension (p=0.013). Twenty percent (n=5) of CAH patients had nocturnal hypertension. CIMT was significantly greater in the nocturnal hypertensive group (p=0.02). Mean systolic BP (SBP) and DBP dipping were significantly different in the CAH patients (p<0.001). CIMT correlated negatively with DBP dipping (r=-0632, p=0.037) in these patients. CONCLUSION: These results provide additional evidence for the presence of subclinical cardiovascular disease in classical CAH patients and its relationship with hypertension.

Turner syndrome and associated problems in Turkish children: a multicenter study.

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 lifespan.

The relationship of periaortic fat thickness and cardiovascular risk factors in children with Turner syndrome.

Children with Turner syndrome (TS) have a broad range of later health problems, including an increased risk of cardiovascular morbidity and mortality. The aim of this study was to evaluate the relationship between periaortic fat thickness (PAFT) and metabolic and cardiovascular profiles in children with TS. Twenty-nine TS and 29 healthy children and adolescents were enrolled in the study. Anthropometric measurements, pubertal staging, and blood pressure measurements were performed. Fasting serum glucose, insulin, and lipid profile were measured. Periaortic fat thickness was measured using an echocardiography method, which has not previously been applied in children with TS. No difference was found between TS and control subject (CS) in age, weight, waist/hip ratio, HDL cholesterol and LDL cholesterol levels. However, in TS subjects, total cholesterol (p = 0.045) was greater than that in controls. It was determined that 13.7 % (N: 4) of TS subjects had dyslipidemia. Mean fasting glucose, fasting insulin, QUICK-I, HOMA, and FGIR index were similar in TS and in CS, whereas 17.2 % (N: 5) of TS subjects had insulin resistance (IR) and 13.7 % (N: 4) had impaired glucose tolerance. Six subjects (20.6 %) were diagnosed as hypertensive. Periaortic fat thickness was significantly higher in the TS group (p < 0.001) (0.1694 ± 0.025 mm in the TS group and 0.1416 ± 0.014 mm in the CS group) In children with TS, PAFT was positively correlated with fasting insulin, body mass index, and diastolic blood pressure. Our results provide additional evidence for the presence of subclinical cardiovascular disease in TS. In addition to existing methods, we recommend the measurement of periaortic fat thickness in children with TS to reveal the presence of early atherosclerosis.

Is there a relationship between cardiovascular risk factors and dehydroepiandrosterone sulfate levels in childhood obesity?

AIM: In this study, parameters of metabolic syndrome and dehydroepiandrosterone sulfate (DHEAS) levels in obese children and adolescents were evaluated and the associations between these factors were analyzed. METHOD: One hundred obese and 40 healthy children/adolescents were included in the study. Pubertal stages, anthropometric and blood pressure measurements were recorded. Levels of fasting serum lipids, glucose, insulin, and DHEAS, and liver function tests were determined. Carotid intima-media thickness (CIMT) was measured using two-dimensional echocardiography. Steatorrhoeic hepatosis was evaluated using abdominal ultrasonography in the obese group. RESULTS: Mean body weight, body mass index, waist, hip circumference, waist/hip ratio, homeostatic model assessment of insulin resistance, triglycerides, high-density lipoprotein cholesterol, alanine transferase, DHEAS, and CIMT values were significantly higher in the obese group than in the controls. DHEAS levels were found to be positively correlated with waist circumference, waist/hip ratio, and CIMT. CONCLUSION: Early determination of metabolic and cardiac dysfunction in obese children is important for the prevention of future complications. Since in this study we found a strong association between DHEAS levels and obesity-related metabolic and cardiovascular risk factors, we believe that this may lead to increased interest in further studies of DHEAS in the search for new treatment approaches.

Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group.

OBJECTIVE: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. METHODS: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. RESULTS: The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. CONCLUSION: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients.