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Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is an X-linked disease caused by activating mutations in the arginine vasopressin (AVP) receptor-2 (AVPR2) gene. Affected patients excrete concentrated urine despite very low levels of AVP, and consequently develop euvolemic hyponatremia. Due to its low frequency, patients may be misdiagnosed and treated incorrectly. We report two related male infants with NSIAD that was initially confused with hyporeninemic hypoaldosteronism (HH). First, a 2-month-old male presented with hyponatremia, low plasma osmolality, relatively high urine osmolality, and low plasma renin-aldosterone levels. These clinical and laboratory findings were compatible with syndrome of inappropriate antidiuretic hormone secretion without apparent cause. Consequently,fludrocortisone was initiated with a presumptive diagnosis of HH While correction of hyponatremia, fludrocortisone treatment led to hypertension and discontinued in a short time. The second patient at age of 1 year was admitted with a history of oligohydramnios, four times hospitalizations due to hyponatremia since birth, and a diagnosis of epilepsy. Similarly, the second infant had clinical and laboratory findings compatible with syndrome of inappropriate antidiuretic hormone secretion with no apparent cause. Fluid restriction normalized his serum sodium despite plasma AVP level was undetectable. In both infants, AVPR2 gene analysis revealed a known mutation (c.409C>T; p.R137C) and confirmed the diagnosis of NSIAD. In conclusion, NSIAD should be considered in all patients with unexplained euvolemic hyponatremia despite high urine osmolality. In case of unawareness from NSIAD, plasma renin-aldosterone profile can be confused with HH, especially in the infants. 34645113

Objective: Turkish Directorate of Public Health introduced the first pilot screening program for congenital adrenal hyperplasia (CAH) in four Turkish cities in 2017, and in 2018 extended the program, with a slight change in screening strategy, to fourteen cities. To evaluate the performance of the extended study and update previously reported outcomes. Methods: Retrospective, descriptive study. Neonates of >= 32 gestational weeks and >= 1500 gr birth weight from fourteen cities, born between May-December 2018, were included. Screening protocol included one sample, two-tier testing as applied in the previous pilot study. In the first step, 17 alpha-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay in dried blood spots (DBS) obtained at 3-5 days of life. Cases with positive initial screening underwent second tier testing by steroid profiling in DBS using liquid chromatography-tandem mass spectrometry to measure 17-OHP, 21-deoxycortisol (21-S), cortisol (F), 11-deoxycortisol and androstenedione. The babies with a steroid ratio (21-S+ 17-OHP)/F of >= 0.7 (increased from >= 0.5 in the earlier pilot study) were referred to pediatric endocrinology clinics for diagnostic assessment. Results: In the evaluated period, 241,083 newborns were screened. 12,321 (5.11 %) required second-tier testing and 880 (0.36 %) were referred for clinical assessment, twenty of whom were diagnosed with CAH (10 females, 10 males). Sixteen were diagnosed as classical 21-hydroxylase deficiency (21-OHD) CAH (12 with salt-wasting and four with simple virilising CAH), and four cases were identified with 11 beta-OHD CAH. No case of salt-wasting CAH was missed by neonatal screening (sensitivity was 100 %). The incidence of classical 21-OHD and 11 beta-OHD in the screened population was 1:15,067 and 1:60,270, respectively. Conclusion: Turkish neonatal CAH screening effectively led to earlier diagnosis of 21-OHD and 11 beta-OHD, using steroid profiling as a second-tier test. This will result in improved care of these patients in the future.

Objective: Pituitary adenomas are detected incidentally in some cases of childhood growth hormone deficiency. Growth hormones may affect tumor growth. This study analyzed the reliability of growth hormone therapy in patients with non-functioning pituitary adenomas. Methods: The study group included 16 hypopituitary patients with incidentally detected non-functioning pituitary adenoma and treated with recombinant growth hormone. Age- and sex-matched 16 healthy children with incidental pituitary adenoma detected during investigation of chronic headache were selected as the control group. The data of the two groups were retrospectively reviewed and compared regarding the change in adenoma size over time. Results: Changes in adenoma size in the patient and control groups were -0.1 (-0.8-0.3) mm and -0.1 (-0.5-0.3) mm, respectively (p=0.664). Adenoma size growth was detected in 3 patients in the patient group and 5 patients in the control group (p=0.685). Conclusion: Our data suggest that recombinant growth hormone therapy does not produce pituitary adenomas, and thus its use is safe in growth hormone deficient children with incidentally detected non-functioning pituitary adenomas.

Objectives In this study, it was aimed to determine the prevalence and clinical features of obesity and metabolic syndrome, which are long-term effects of survivors after treatment in children with leukemia and lymphoma. Patients and Methods Patients with leukemia and lymphoma, who were diagnosed between 2000 and 2012 (at least 2 two years after remission) were included. Data obtained through reviewing the family history, demographic characteristics, anthropometric measurements, and laboratory parameters (blood glucose, lipid, and insulin levels) were analyzed and compared at the time of diagnosis, after the treatment and at time of the study. Results Eighty nine patients (45 boys, 44 girls) were included (mean age: 14.7 ± 4.3 years): 77.5% had acute lymphoblastic leukemia, 11.2% had acute myeloid leukemia, and 11.2% had lymphoma. Overall, 46% patients had received radiotherapy, 7% had undergone surgery, and 2.2% had received stem cell transplantation in addition to chemotherapy. The mean duration of treatment was 2.4 years, and the time elapsed after treatment was 4.9 years. While only one had obesity at the diagnosis, a significant increase in obesity (20%), hypertension (15.7%), hyperglycemia (15%), insulin resistance (35%) were observed at the time of study, and family history of hypertension, dyslipidemia, and cardiovascular diseases were significantly higher in this subgroup. Conclusion The prevalence of metabolic syndorme is higher in children with leukemia and lymphoma after treatment, and begins to increase with the initiation of treatment and continues to increase over time. These children should be followed-up for late-effects including metabolic syndrome through life-long period.

Eren, Erdal/0000-0002-1684-1053; yilmaz, gulay can/0000-0003-0525-1231; Demir, Korcan/0000-0002-8334-2422; UCAKTURK, Seyit Ahmet/0000-0001-8666-4454; Kara, Cengiz/0000-0002-8989-560X WOS: 000469271100005 PubMed: 30396880 Objective: No large study has been conducted to date to compare the effectiveness of prednisolone, alendronate and pamidronate as first-line treatment in children with hypercalcemia due to vitamin D intoxication. The aim was to perform a multicenter, retrospective study assessing clinical characteristics and treatment results. Methods: A standard questionnaire was uploaded to an online national database system to collect data on children with hypercalcemia (serum calcium level > 10.5 mg/dL) due to vitamin D intoxication [serum 25-hydroxyvitamin D (25(OH)D) level > 150 ng/mL] who were treated in pediatric endocrinology clinics. Results: Seventy-four children [median (range) age 1.06 (0.65-1.60) years, 45 males (61 %) from II centers] were included. High-dose vitamin D intake was evident in 77% of the cases. At diagnosis, serum calcium, phosphorus, alkaline phosphatase, 25(OH)D and parathyroid hormone concentrations were 15 +/- 3.2 mg/dl., 5.2 +/- 1.2 mg/dL, 268 +/- 132 IU/L, 322 (236-454) ng/ml, and 5.5 (3-10.5) pg/mL, respectively. Calcium levels showed moderate correlation with 25(OH)D levels (r(s) = 0.402, p

AYDIN, MURAT/0000-0001-7374-229X; Gurbuz, Fatih/0000-0003-2160-9838; Kara, Cengiz/0000-0002-8989-560X; GURAN, TULAY/0000-0003-2658-6866; Tezel, Basak/0000-0001-9280-6746 WOS: 000459188200003 PubMed: 30111524 Objective: Congenital adrenal hyperplasia (CAH) is the most common form of primary adrenal insufficiency in children. Neonatal screening for CAH is effective in detecting the salt-wasting (SW) form and in reducing mortality. in this study, our aim was to estimate the incidence of CAH in Turkey and to assess the characteristics and efficacy of the adopted newborn CAH screening strategy. Methods: A pilot newborn CAH screening study was carried out under the authority of the Turkish Directorate of Public Health. Newborn babies of >= 32 gestational weeks and >= 1500 gr birth weight from four cities, born between March 27-September 15, 2017 were included in the study. Screening protocol included one sample two-tier testing. In the first step, 17 alpha-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay in dried blood spots (DBS) obtained at 3-5 days of life. The cases with positive initial screening were tested by steroid profiling in DBS using a liquid chromatography-tandem mass spectrometry method to measure 17-OHP, 21-deoxycortisol (21-S), cortisol (F), 11-deoxycortisol and androstenedione as a second-tier test. The babies with a steroid ratio (21-S + 17-OHP)/F of >= 0.5 were referred to pediatric endocrinology clinics for diagnostic assessment. Results: 38,935 infants were tested, 2265 (5.82 %) required second-tier testing and 212 (0.54 %) were referred for clinical assessment, six of whom were diagnosed with CAH (four males, two females). Four cases were identified as SW 21-hydroxylase deficiency (21-OHD) (two males, two females). One male baby had simple virilizing 21-0HD and one male baby had II-OHD CAH. The incidence of classical 21-0HD in the screened population was 1:7,787. Conclusion: The incidence of CAH due to classical 21-OHD is higher in Turkey compared to previous reports. We, therefore, suggest that CAH be added to the newborn screening panel in Turkey. The use of steroid profiling as a second-tier test was found to improve the efficacy of the screening and reduce the number of false-positives.

Objectives Obesity is a growing problem in type 1 diabetes mellitus (T1DM) today. The aim of our study is to determine the frequency of overweight/obesity at the time of diagnosis and during follow-up in children with T1DM as well as review the conditions that may accompany. Methods A total of 315 patients with T1DM were retrospectively analyzed. The patients were divided into two groups as normal weight and overweight/obese. The two groups were compared in terms of age at diagnosis, birth weight, anthropometric measurements, insulin dose used and blood pressure measurements, and insulin, c-peptide, hemoglobin A1c, triglyceride, and high-density lipoprotein levels at the time of diagnosis and follow-up. Results The height, weight and body mass index standard deviation (BMI SD) scores, and c-peptide levels at the time of diagnosis of the overweight/obese group were higher than those with normal weight (p Conclusions In our study, the fact that the overweight/obese group had higher BMI and c-peptide and lower HDL values at the time of diagnosis can be evaluated as indicators that insulin resistance syndrome can accompany T1DM from the beginning (double diabetes). When determining the treatment and follow-up strategies of patients with T1DM, considering the risk of obesity and taking the necessary precautions is very important in terms of morbidity.

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 2.2, 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.

Eren, Erdal/0000-0002-1684-1053; Abaci, Ayhan/0000-0002-1812-0321; sahin, nursel muratoglu/0000-0002-8215-0146; siklar, zeynep/0000-0003-0921-2694; berberoglu, merih/0000-0003-3102-0242; Mengen, Eda/0000-0003-1597-8418 WOS: 000463248300011 PubMed: 30132287 BackgroundStudies regarding genetic and clinical characteristics, gender preference, and gonadal malignancy rates for steroid 5-alpha-reductase type 2 deficiency (5-RD2) are limited and they were conducted on small number of patients.ObjectiveTo present genotype-phenotype correlation, gonadal malignancy risk, gender preference, and diagnostic sensitivity of serum testosterone/dihydrotestosterone (T/DHT) ratio in patients with 5-RD2.Materials and methodsPatients with variations in the SRD5A2 gene were included in the study. Demographic characteristics, phenotype, gender assignment, hormonal tests, molecular genetic data, and presence of gonadal malignancy were evaluated.ResultsA total of 85 patients were included in the study. Abnormality of the external genitalia was the most dominant phenotype (92.9%). Gender assignment was male in 58.8% and female in 29.4% of the patients, while it was uncertain for 11.8%. Fourteen patients underwent bilateral gonadectomy, and no gonadal malignancy was detected. The most frequent pathogenic variants were p.Ala65Pro (30.6%), p.Leu55Gln (16.5%), and p.Gly196Ser (15.3%). The p.Ala65Pro and p.Leu55Gln showed more undervirilization than the p.Gly196Ser. The diagnostic sensitivity of stimulated T/DHT ratio was higher than baseline serum T/DHT ratio, even in pubertal patients. The cut-off values yielding the best sensitivity for stimulated T/DHT ratio were8.5 for minipuberty,10 for prepuberty, and17 for puberty.ConclusionThere is no significant genotype-phenotype correlation in 5-RD2. Gonadal malignancy risk seems to be low. If genetic analysis is not available at the time of diagnosis, stimulated T/DHT ratio can be useful, especially if different cut-off values are utilized in accordance with the pubertal status. Turkish Pediatric Endocrinology and Diabetes Society [032015] This work was supported financially by the Turkish Pediatric Endocrinology and Diabetes Society (Grant number: 032015).

GIRIS ve AMAC: Bu calismada bir yil icerisinde herhangi bir sebeple uroloji poliklinigine basvuran prepubertal erkek cocuk hastalarda mikropenis prevelansinin belirlenmesi ve hastalarin basvuru sebeplerinin ortaya cikartilmasi planlandi. YONTEM ve GERECLER: Aralik 2014-Aralik 2015 tarihleri arasinda uroloji poliklinigine basvuran prepubertal erkek cocuk (

WOS:000419241900006, Amaç: Bu çalışmanın amacı, şiddetli arteriyojenik erektil disfonksiyona (ED) sahip hastalarda, fosfodiesteraz tip 5 (PDESİ) inhibitörünün (Tadalafil 5 mg) günlük kullanımı ile kombine edilen düşük dansiteli lineer şok dalga tedavisini (LI-ESWT), sadece PDESİ'nin günlük kullanımı ile kıyaslayarak LI-ESWT'nin etkinliğini değerlendirmektir.Gereç ve Yöntem: Toplam 23 hasta çalışmaya dahil edildi. Bu hastalar LI-ESWT tadalafil 5 mg tedavisi (n10) uygulanan, sadece tadalafil 5 mg tedavisi uygulanan (n13) hastalar şeklinde iki gruba ayrıldı. LI-ESWT, 4 hafta boyunca haftada bir kez uygulandı. Her iki gruptaki hastalara da günde bir defa tadalafil 5 mg tedavisi oral olarak başlandı ve tedaviye her iki grupta 3 ay devam edildi. Tedavi öncesi ve sonrası 1. ay ve 3. ayda hastalar Uluslararası Erektil Fonksiyon İndeks Formu-Erektil Fonksiyon Alanı Skoru (IIEF-EF) ve Ereksiyon Sertlik Derecesi Skoru (ESDS) seviyeleri ve Seksüel İlişki Profili (SEP) 2 ve 3 ile değerlendirildi. Bulgular: Tedavi öncesi ve tedavi sonrası 1. ve 3. ayda ölçülen IIEF-EF skorları arasında istatiksel anlamlı fark saptanmadı (p0,091; p0,198). Üçüncü ay sonunda LI-ESWT tadalafil 5 mg grubunda IIEF-EF skoru 4 puan, Tadalafil 5 mg grubunda 3,2 puan artış gösterdi. İki grup arasında 1. ve 3. ayda ölçülen ESDS, SEP2 ve SEP3 pozitif hasta oranları arasında istatistiksel olarak anlamlı fark saptanmadı.Sonuç: LI-ESWT, ED tedavisinde kolay uygulanabilir, belirgin yan etkisi olamayan ve sonuçlar üzerinde pozitif etkisi olan bir uygulamadır. Fakat ağır arteriyojenik ED mevcut hastalarda etkin bir tedavi yöntemi değildir., Objective: The aim of this study was to evaluate the efficacy of low-intensity linear shockwave treatment (LI-ESWT) in patients with severe arteriogenic erectile dysfunction (ED) by comparing LI-ESWT combined with daily use of phosphodiesterase type 5 inhibitors (PDE5i) with the daily use of PDE5i alone.Materials and Methods: A total of 23 patients were included in the study. The patients were separated into two groups: LI-ESWT tadalafil 5 mg (n10) group and tadalafil 5 mg only group (n13). LI-ESWT was applied once a week for four weeks. Oral tadalafil 5 mg once a day was started and continued for three months in both groups. The patients were evaluated with the International Erectile Function Index Questionnaire Erectile Function Domain (IIEF-EF), Erection Hardness Score (EHS) and Sexual Encounter Profile (SEP) 2 and 3 before treatment and the 1 and 3 months after treatment. Results: No statistically significant difference was detected among IIEF-EF scores measured before and 1 and 3 months after treatment (p0.091, p0.198). At the end of the third month, IIEF score increased 4 points in LI-ESWT tadalafil 5 mg group and 3.2 points in tadalafil 5 mg only group. No statistically significant difference was detected in EHS, and the rate of positive responses to SEP2 and SEP3 questions at the 1st and 3rd months between the groups.Conclusion: LI-ESWT is easily applicable without any significant side effects and it has positive effects on the outcomes, however, it is not an effective treatment method in patients with severe arteriogenic ED.

Camlidag, Ilkay/0000-0001-6151-1312; yilmaz, gulay can/0000-0003-0525-1231 WOS: 000413811300040 PubMed: 28871805 OBJECTIVE. The aim of this study is to determine the effects of type 1 diabetes on pancreas and kidney elasticity in children, using acoustic radiation force impulse ultrasound elastography. SUBJECTS AND METHODS. Sixty autoantibody-positive patients with type 1 diabetes (45% girls; mean [+/- SD] age, 11.7 +/- 4.4 years; range, 1.9-19.3 years) admitted to the pediatric endocrinology outpatient clinic and 32 healthy children (50% girls; mean age, 10.2 +/- 3.8 years; range, 2.1-17.3 years) were included in the study. Acoustic radiation force impulse elastography measurements were performed of the kidneys and pancreas in both groups. Body mass index, duration of diabetes, HbA1c levels, and insulin dosage of patients with type 1 diabetes were recorded. RESULTS. The mean shear-wave velocities of the pancreas were 0.99 +/- 0.25 m/s in patients with type 1 diabetes and 1.09 +/- 0.22 m/s in healthy control subjects; the difference was not significant (p = 0.08). The median shear-wave velocities of the right and left kidneys in patients with type 1 diabetes were 2.43 +/- 0.29 and 2.47 +/- 0.25 m/s, respectively. There were no significant differences in the shear-wave velocities of the right and left kidneys between the patients with type 1 diabetes and the healthy control subjects (p = 0.91 and p = 0.73, respectively). Correlation analysis showed no correlation between the shear-wave velocities of the pancreas and kidney versus HbA1c level, duration of diabetes, insulin dosage, height, weight, and body mass index of the patients with type 1 diabetes. CONCLUSION. The current study showed no significant difference in the shear-wave velocity of kidneys in children with type 1 diabetes with normoalbuminuria compared with the healthy control subjects. We also observed that the shear-wave velocity of the pancreas in children with type 1 diabetes and healthy control subjects did not differ significantly.

Objectives To evaluate the parenchymal elasticity of the thyroid gland with acoustic radiation force impulse imaging in pediatric patients with Hashimoto thyroiditis and to compare it with healthy volunteers. Methods Twenty-six patients with Hashimoto thyroiditis and 26 healthy volunteers between 6 and 17 years were included. The shear wave velocity (SWV) values of both thyroid lobes in both groups were evaluated. Results The age and sex characteristics of the controls and patients with Hashimoto thyroiditis were similar. The SWV of the thyroid gland in patients with Hashimoto thyroiditis (mean ± SD, 1.67 ± 0.63 m/s) was significantly higher than that in the control group (1.30 ± 0.13 m/s; P

Objective: To present the underlying etiological factors in patients referring with priapism, sharing how they are managed according to etiology and priapism type together with our experiences, creating awareness so that urologists and emergency physicians may play a more active role together in priapism management. Materials and methods: Patients referring to emergency service with priapism were examined. Penile Doppler ultrasonography (PDU) and/or corporeal aspiration and blood gas analysis were made in order to determine priapism type after anamnesis and physical examination. The most appropriate treatment option was chosen and applied on the patients considering priapism type, underlying etiological factors and priapism time. Presence of a statistical difference between etiological factors causing priapism, priapism type and applied treatment methods was calculated using Chi square (χ2) test. Results: A total of 51 patients referring to emergency service with priapism attacks for 53 times were included in the evaluation. When compared to other etiological factors, number of priapism cases developing secondary to papaverine after PDU was found statistically significantly high (p < 0.001). Ischemic priapism ratio was detected statistically higher compared to other groups (p < 0.001). Aspiration and/or irrigation treatment were the most common method used for treatment at a statistically significant level (p < 0.001). All patients (100%) were hospitalized in urology service without applying any treatment in emergency service and had treatment and intervention under the control of the urologist. Conclusions: Application of non-invasive treatments in suitable priapism patients would protect patients from invasive painful interventions. We believe that emergency physicians should be more effective in priapism phase management and at least noninvasive treatment phase.

Objectives Our aims in this study were as follows: (1) to determine the cutoff value that can distinguish between advanced liver fibrosis and normal liver tissue for two different elastographic techniques; (2) to determine the cutoff value that can distinguish mild liver fibrosis from normal liver tissue for the techniques; and (3) to assess tissue stiffness in nonalcoholic fatty liver disease (NAFLD). Methods Seventy-five patients assessed for liver biopsy on the same day were evaluated by point shear wave elastography. Thirty-one healthy children and 11 children with NAFLD were also evaluated. A 9L4 transducer with Virtual Touch quantification (VTQ) and Virtual Touch imaging and quantification (VTIQ) modes (Siemens Medical Solutions, Mountain View, CA) was used for quantification. Results The shear wave speed of the patients with NAFLD was higher than that of the control group. The only predictive factor for VTQ and VTIQ was the histologic fibrosis score (model-adjusted R2 = 0.56 for VTQ and 0.75 for VTIQ). Shear wave speed cutoffs were 1.67 m/s for VTQ and 1.56 m/s for VTIQ in detecting fibrosis or inflammation and 2.09 m/s for VTQ and 2.17 m/s for VTIQ in discriminating children with low and high histologic liver fibrosis scores. Conclusions The VTQ and VTIQ values reveal high-grade histopathologic fibrosis and have high success rates when distinguishing high- from low-grade fibrosis. However, they have limited success rates when differentiating low-grade fibrosis from normal liver tissue.

Objectives To determine the clinical utility of the estimated glucose disposal rate (eGDR) for predicting metabolic syndrome (MetS) in children and adolescents with type-1 diabetes (T1D). Methods Modified criteria of the International Diabetes Federation were used to determine MetS in children and adolescents between 10 and 18 years of age with T1D. The eGDR, a validated marker of insulin sensitivity, was calculated in two different ways using either the waist-to-hip ratio (WHR) or waist circumference (WC). Receiver operating characteristic (ROC) curve analysis was performed to ascertain cut-off levels of the eGDR to predict MetS. Results A total of 200 patients (52% male) with T1D were enrolled in the study. The prevalence of MetS was 10.5% (n: 21). Lower eGDR levels, indicating greater insulin resistance, were found in T1D patients with MetS when compared to those without (6.41 ± 1.86 vs. 9.50 ± 1.34 mg/kg/min) (p WHR cut-off of 8.44 mg/kg/min showed 85.7% sensitivity and 82.6% specificity, while an eGDRWC cut-off of 8.16 mg/kg/min showed 76.1% sensitivity and 92.1% specificity for MetS diagnosis. The diagnostic odds ratio was 28.6 (7.3–131.0) for the eGDRWHR cut-off and 37.7 (10.8–140.8) for the eGDRWC cut-off. Conclusions The eGDR is a mathematical formula that can be used in clinical practice to detect the existence of MetS in children and adolescents with T1D using only the WC, existence of hypertension, and hemoglobin A1c levels. An eGDR calculated using the WC could be a preferred choice due to its higher diagnostic performance.

Background: Given the rarity of 11β-hydroxylase deficiency (11βOHD), there is a paucity of the data about the differences in clinical and biochemical characteristics of classic (C-11βOHD) and non-classic 11βOHD (NC-11βOHD).Objective: To characterize a multicenter pediatric cohort with 11βOHD. Method: The clinical and biochemical characteristics were 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 final height was 152 cm (-1.85SDS) and male 160.4 cm (-2.56SDS). 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 2.2

Context The clinical effects of classical 3β-hydroxysteroid dehydrogenase 2 (3βHSD2) deficiency are insufficiently defined due to a limited number of published cases. Objective To evaluate an integrated steroid metabolome and the short- and long-term clinical features of 3βHSD2 deficiency. Design Multicenter, cross-sectional study. Setting Nine tertiary pediatric endocrinology clinics across Turkey. Patients Children with clinical diagnosis of 3βHSD2 deficiency. Main Outcome Measures Clinical manifestations, genotype-phenotype-metabolomic relations. A structured questionnaire was used to evaluate the data of patients with clinical 3βHSD2 deficiency. Genetic analysis of HSD3B2 was performed using Sanger sequencing. Novel HSD3B2 mutations were studied in vitro. Nineteen plasma adrenal steroids were measured using LC-MS/MS. Results Eleven homozygous HSD3B2 mutations (6 novel) were identified in 31 children (19 male/12 female; mean age: 6.6 ± 5.1 yrs). The patients with homozygous pathogenic HSD3B2 missense variants of > 5% of wild type 3βHSD2 activity in vitro had a non-salt–losing clinical phenotype. Ambiguous genitalia was an invariable feature of all genetic males, whereas only 1 of 12 female patients presented with virilized genitalia. Premature pubarche was observed in 78% of patients. In adolescence, menstrual irregularities and polycystic ovaries in females and adrenal rest tumors and gonadal failure in males were observed. Conclusions Genetically-documented 3βHSD2 deficiency includes salt-losing and non-salt–losing clinical phenotypes. Spared mineralocorticoid function and unvirilized genitalia in females may lead to misdiagnosis and underestimation of the frequency of 3βHSD2 deficiency. High baseline 17OHPreg to cortisol ratio and low 11-oxyandrogen concentrations by LC-MS/MS unequivocally identifies patients with 3βHSD2 deficiency.

Çalışmada 24 yazar bulunmaktadır. Bu yazarlardan sadece Bursa Uludağ Üniversitesi mensuplarının girişleri yapılmıştır. 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 Pill 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.

AYDIN, HASAN MURAT/0000-0001-7374-229X; Kara, Cengiz/0000-0002-8989-560X WOS: 000521073900006 PubMed: 31434460 Objective: To determine the prevalence of obesity and metabolic syndrome (MetS) in children and adolescents with type I diabetes (TI D) and to compare the widely accepted and used diagnostic criteria for MetS established by the International Diabetes Federation UDR World Health Organisation (WHO) and National Cholesterol Education Program-Adult Treatment Panel III (NCEP-ATPIII). Methods: We conducted a descriptive, cross sectional study including T1D patients between 8-18 years of age. The three sets of criteria were used to determine the prevalence of MetS and findings compared. Risk factors related to MetS were extracted from hospital records. Results: The study included 200 patients with T1D (52 % boys). Of these, 18 % (n = 36) were overweight/obese (body mass index percentile 85%). MetS prevalence was 10.5 %, 8.5% and 13.5% according to IDF, WHO and NCEP criteria, respectively. There were no statistically significant differences in age, gender, family history of T1D and T2D, pubertal stage, duration of diabetes, hemoglobin Al c levels and daily insulin doses between patients with or without MetS. In the overweight or obese T1D patients, the prevalence of MetS was 44.4 %, 38.8% and 44.4% according to IDF, WHO and NCEP-ATPIII criteria, respectively. Conclusion: Obesity prevalence in the T1D cohort was similar to that of the healthy population of the same age. Prevalence of MetS was higher in children and adolescents with TI D compared to the obese population in Turkey. The WHO criteria include microvascular complications which are rare in childhood and the NCEP criteria do not include a primary criterion while diagnosing non-obese patients according to waist circumference as MetS because the existence of diabetes is considered as a direct criterion. Our study suggests that IDF criteria which allows the diagnosis of MetS with obesity and have accepted criteria for the childhood are more suitable for the diagnosis of MetS in children and adolescents with T1D.

Introduction Laparoscopic minimally invasive partial nephrectomy (MIPN) is the preferred technique in renal surgery, especially T1 phase kidney tumours, and it is recommended for the protection of renal functions in methods that do not involve ischaemia. Aim To evaluate long-term renal functions of zero-ischaemia laparoscopic MIPN patients who underwent a modified sequential preplaced suture renorrhaphy technique. Material and methods In a total of 17 renal units in 16 patients with kidney tumours that were determined incidentally and did not cause any complaints, the masses were extracted via laparoscopic partial nephrectomy (LPN) using the modified sequential preplaced suture renorrhaphy technique. Creatinine and estimated glomerular filtration rate (eGFR) values of the patients were measured preoperatively and on the first day and after 12 months postoperatively, and the results were compared. Results The differences between the pre- and postoperative values were statistically significant (p = 0.033, p = 0.045), but the changes in postoperative creatinine and eGFR values were clinically insignificant. While the differences between preoperative and first-day postoperative creatinine and eGFR values were found to be statistically significant (p = 0.039, p = 0.042, respectively), a statistically significant difference was not detected between preoperative and 12-month postoperative creatinine and eGFR values (p = 0.09, p = 0.065, respectively). The global percentage of functional recovery was measured as 92.5% on the first day and 95.9% at the 12th month. Conclusions The modified sequential preplaced suture renorrhaphy technique is an effective, reliable method for avoiding complications and preserving renal functions and nephrons in appropriate patients.

Elhan, Atilla Halil/0000-0003-3324-248X; siklar, zeynep/0000-0003-0921-2694; Turan, Serap/0000-0002-5172-5402; ABALI, SAYGIN/0000-0001-6552-2801; Abaci, Ayhan/0000-0002-1812-0321; Buyukinan, Muammer/0000-0002-2937-823X; GUVEN, AYLA/0000-0002-2026-1326; yilmaz, gulay can/0000-0003-0525-1231; berberoglu, merih/0000-0003-3102-0242; Ozgen, Ilker Tolga/0000-0001-6592-9652 WOS: 000385025700008 PubMed: 27125300 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. Turkish Pediatric Endocrinology and Diabetes Society [042014] This work was supported by the Turkish Pediatric Endocrinology and Diabetes Society (Grant Number: 042014).

AYDIN, MURAT/0000-0001-7374-229X; yilmaz, gulay can/0000-0003-0525-1231 WOS: 000378169400008 PubMed: 27086592 Objective: Prevalence of congenital hypothyroidism (CH) in Turkey at birth was reported to be as high as 1: 650 in 2008-2010. Incidence rates of permanent and transient CH separately are unknown due to lack of follow-up data. We aimed to evaluate the impact of transient hypothyroidism on increasing incidence of CH and to determine the natural course and the clinical, biochemical, and imaging characteristics of transient CH. Methods: Baseline and follow-up data of the infants with CH detected at screening in six provinces in the Black Sea Region were analyzed retrospectively during a time period covering the years 2008-2010. Results: Among 138 cases (48% female), 16 (12%) showed transient hyperthyrotropinemia which resolved without intervention. Of the treated 122 cases, 63 (52%) had transient CH. While its frequency was 35% in 2008, it increased to 56% in 2009-2010, following a lowering of the thyroid stimulating hormone cutoff value. The frequency was higher in inland provinces than in coast (67% vs. 43%; p=0.01). Clinical characteristics of permanent and transient cases were similar except female-to-male sex ratios (1.5: 1 vs. 0.6: 1; p= 0.02). L-thyroxine was discontinued in 70% of transient cases before 3 years of age at a median age of 19 (2-36) months. The only indication for early discontinuation of treatment was a low L-thyroxine dose, which was 1.25 +/- 0.27 mu g/kg/day at withdrawal time. Conclusion: Our regional follow-up data showed that more than half of newborns with primary CH had transient thyroid dysfunction. In the majority of cases, discrimination between transient and permanent CH can be made before age 3 years, as indicated by cessation of L-thyroxine treatment.

Background Bisphosphonates are used in the treatment of vitamin D intoxication (VDI) after failure of conventional therapy including prednisolone. Safety concerns restrict the use of bisphosphonates from being used as first-line therapy for VDI in children. The aim of this study was to evaluate the efficacy and safety of pamidronate in comparison with prednisolone in children with VDI. Methods We reviewed the hospital records of children consecutively diagnosed with VDI at two medical centers in a 15 year period. Results The subjects consisted of 21 children (age, 0.3–4.2 years) who were treated with prednisolone and/or bisphosphonates. Pamidronate (n = 18) or alendronate (n = 3) was used in six patients after unsuccessful prednisolone treatment, and in 15 patients from baseline. Initial serum calcium and 25-hydroxyvitamin D were 16.1 ± 1.9 mg/dL and 493 ± 219 ng/mL, respectively. The median time to reach normocalcemia in the pamidronate, alendronate and prednisolone groups was 3 days (range, 2–12 days), 4 days (range, 3–6 days) and 17 days (range, 12–26 days), respectively (P = 0.013). The pamidronate group had a fivefold shorter hospital stay than the prednisolone group. Three patients initially treated with prednisolone developed nephrocalcinosis but this did not occur in any patient treated with bisphosphonates from baseline. Apart from transient fever and moderate hypophosphatemia, no side-effect of bisphosphonate treatment was observed. Conclusions Pamidronate is efficient and safe for the treatment of VDI in children. Pamidronate use significantly shortens the duration of treatment, and thereby may prevent the development of nephrocalcinosis. Instead of prednisolone, pamidronate should be used together with hydration and furosemide as the first-line therapy for VDI.

Fanconi- Bickel Syndrome (FBS) is a rare glycogen storage disease (GSD) . Transient diabetes is rarely reported with FBS. We describe a patient with FBS diagnosed by diabetes findings and identification of a mutation in the GLUT2. A male infant, from a consanguineous marriage, presented with hyperglycemia and urinary system infections at 59 days and was given insulin therapy. At age 3 months, insulin was discontinued. Neonatal diabetes may be a first presentation of infants with FBS. [Med-Science 2017; 6(1.000): 111-3]

Dirican, Enver/0000-0001-6230-1229; Gode, Funda/0000-0002-9371-6942; Dirican, Enver/0000-0001-6230-1229 WOS: 000411999200002 PubMed: 29949336 Objectives: The aim of this study was to evaluate the relationship between in vitro fertilization (IVF) cycle outcomes, serum and follicular fluid (FF) levels of leptin and ghrelin. Material and methods: Forty-four women who underwent intracytoplasmic sperm injection cycles (ICSI) were enrolled in the study. On the third day (D3) of the menstrual cycle, venous blood samples were drawn for serum measurements of leptin and ghrelin. The follicular fluid (FF) and the corresponding oocyte were obtained from a single dominant preovulatory follicle at the time of oocyte pick-up. The FF and D3 serum leptin and ghrelin concentrations were measured by enzyme-linked immunosorbent assay. The relationship between pregnancy rate and serum, follicular fluid levels of leptin and ghrelin were analyzed. Results: Of the 44 cases included, nineteen achieved clinical pregnancy (43.18%). Follicular fluid ghrelin levels were significantly lower in the pregnant group than non-pregnant group (p < 0.05) With respect to FF leptin, there was no statistically significant differences between the pregnant and non-pregnant women (p > 0.05). There was no statistically significant difference in D3 serum ghrelin between pregnant and non-pregnant groups (p > 0.05). However, D3 serum leptin levels were significantly lower in pregnant women than non-pregnant women (p < 0.05). Conclusions: Lower ghrelin levels in the follicular fluid were associated with higher pregnancy rates. Also, D3 serum leptin levels were inversely correlated with clinical pregnancy rates. These findings support the potential role of these molecules on IVF outcomes.

WOS: 000361339400008, PubMed: 26067745, Objective: To determine the impact of percutaneous nephrolithotomy (PNL) on global and regional renal function in children. Methods: In total, 40 children (41 renal units) undergoing PNL were included in this prospective study. All patients were evaluated using quantitative single-photon emission computed tomography (QSPECT) with technetium-99 m-dimercaptosuccinic acid (Tc-99m-DMSA) examinations before and 3 months after surgery. Results: The mean age was 9.5 years (range, 3-16), and the mean stone size was 3.4 cm (range, 2-6.5). Of the cases, 39 (95%) were managed as being stone-free after a single session of PNL. After additional treatment procedures, 40 (97.5%) of the cases were managed as being stone-free. Of the 41 renal units, new focal cortical defects on Tc-99m-DMSA scans were seen in 4 (9.7%) patients. Total relative uptake in the treated kidneys increased from 42.3% to 44.1%. The mean creatinine level before PNL was 1.18 +/- 0.45 (0.8-1.6) mg/dL compared with 1.16 (0.7-1.5) mg/dL by the end of the follow-up period (not statistically significantly different, p>0.05). Conclusions: PNL in children is a safe and feasible method for the maximal clearance of stones. QSPECT of Tc-99m-DMSA confirmed that renal function is preserved or even improved after percutaneous stone removal.