Search

Background In chronic asthma treatment, leukotriene receptor antagonists have been recommended, but it is not clear whether montelukast can be used in acute recurrent wheezing attacks in children. Objective To investigate the safety and effectiveness of oral montelukast in addition to standard treatment in hospitalized children aged between 6 and 72 months with acute recurrent wheezing attacks. Method One hundred patients aged between 6 and 72 months who had wheezing attacks with clinical asthma scores (CAS) ≥3 and were hospitalized were included in this randomized, double-blind, placebo-controlled, parallel-group clinical trial. All the patients included in the study were given 0.15 mg/kg (maximum 5 mg) nebulized salbutamol (8 L/min and with 100% O2 ) with 4 h of intervals, 1 mg/kg prednisolone (maximum 5 days), nebulized ipratropium bromide (total eight doses) with 6 h of intervals. In addition to this treatment, one group received 4 mg montelukast, and the other group received a placebo. The CAS of the patients were evaluated with 4-h intervals. Results Total hospital length of stay (LOS) was not different between the montelukast and placebo groups (p = 0.981). There was no statistically significant difference between the two treatment groups in terms of discharge time, CAS, and oxygen saturation (p ≥ 0.05). Conclusion Adding montelukast to standard treatment in patients hospitalized for moderate-to-severe wheezing attacks did not affect hospital LOS and CAS.

Context Biallelic mutations in the PTF1A enhancer are the commonest cause of isolated pancreatic agenesis. These patients do not have severe neurological features associated with loss-of-function PTF1A mutations. Their clinical phenotype and disease progression have not been well characterized. Objective To evaluate phenotype and genotype characteristics and long-term follow-up of patients with PTF1A enhancer mutations. Setting Twelve tertiary pediatric endocrine referral centers. Patients Thirty patients with diabetes caused by PTF1A enhancer mutations. Median follow-up duration was 4 years. Main Outcome Measures Presenting and follow-up clinical (birthweight, gestational age, symptoms, auxology) and biochemical (pancreatic endocrine and exocrine functions, liver function, glycated hemoglobin) characteristics, pancreas imaging, and genetic analysis. Results Five different homozygous mutations affecting conserved nucleotides in the PTF1A distal enhancer were identified. The commonest was the Chr10:g.23508437A>G mutation (n = 18). Two patients were homozygous for the novel Chr10:g.23508336A>G mutation. Birthweight was often low (median SDS = –3.4). The majority of patients presented with diabetes soon after birth (median age of diagnosis: 5 days). Only 2/30 presented after 6 months of age. All patients had exocrine pancreatic insufficiency. Five had developmental delay (4 mild) on long-term follow-up. Previously undescribed common features in our cohort were transiently elevated ferritin level (n = 12/12 tested), anemia (19/25), and cholestasis (14/24). Postnatal growth was impaired (median height SDS: –2.35, median BMI SDS: –0.52 SDS) with 20/29 (69%) cases having growth retardation. Conclusion We report the largest series of patients with diabetes caused by PTF1A enhancer mutations. Our results expand the disease phenotype, identifying recurrent extrapancreatic features which likely reflect long-term intestinal malabsorption.

Introduction: Ultrasonography and fine needle aspiration biopsy are reliable diagnostic methods used to predict malignancy in thyroid nodules. They are useful in identifying patients for therapy or preventing unnecessary surgery. Materials and Methods: The aim of this study was to compare clinical and ultrasonographic findings with fine needle aspiration biopsy and histopathological examination results in children with thyroid nodules. Retrospective study. This multicentre study included pediatric patients with thyroid nodules, followed up between July 2002 and November 2019 in nine Turkish Pediatric Endocrinology Units. Clinical, ultrasonographic, cytological and histopathological findings (malignant or benign) were analyzed retrospectively. Fine needle aspiration biopsy findings were classified according to American Thyroid Association criteria. Results: A total of 203 children were included, of whom 82.3% (n=167) were female. Mean±standard deviation age was 14.06±2.26 (range 3.7-19) years. Cytological diagnoses were: non–diagnostic or unsatisfactory 1.9%; benign 59.6%; atypia or follicular lesion of undetermined significance, suspicious for follicular neoplasm in 2.4%; suspicious for malignancy 12.8%; and malignant in 1.9%. Surgery was performed in 59 (29.1%) patients. In total 33 (16.3%) patients were diagnosed with malignancy. In patients with benign fine needle aspiration biopsy results, malignancy was detected in 17.6% when they underwent surgery. Malignancy was present in 44.4% of the patients with cytologically determined atypia or follicular lesion of undetermined significance. The diagnostic accuracy of fine needle aspiration biopsy was 79%. Conclusion: This study is first multicentre study investigating thyroid nodules in children and adolescents in Turkey. In this population fine needle aspiration biopsy has an important role in diagnosis, but ultrasonographic features of nodule should also be taken into consideration. Atypia or follicular lesion of undetermined significance may be of greater clinical significance than has previously been reported. Giriş: Ultrasonografi ve ince iğne aspirasyon biyopsisi, tiroid nodüllerinde maligniteyi öngörmede kullanılan güvenilir tanı yöntemleridir. Doğru hastayı bulmada ve gereksiz ameliyatları önlemede faydalıdırlar. Bu çalışmanın amacı tiroid nodülü bulunan çocuklarda ince iğne aspirasyon biyopsisi ile klinik, ultrasonografik bulgular ve histopatolojik inceleme sonuçlarını karşılaştırmaktır. Gereç ve Yöntem: Bu çok merkezli çalışmada, Türkiye’den 9 farklı Pediatrik Endokrinoloji Ünitesinde Temmuz 2002-Kasım 2019 tarihleri arasında takip edilen tiroid nodüllü hastaların verileri incelendi. Tiroid nodüllü çocuk hastaların klinik, ultrasonografik, sitolojik ve histopatolojik bulguları (malign veya benign) retrospektif olarak incelendi. İnce iğne aspirasyon biyopsisi ile takip edilen hastaların bulguları Amerikan Tiroid Birliği’ne göre sınıflandırıldı. Bulgular: Çalışmaya toplam 203 çocuk dahil edildi, hastaların %82,3’ü (n=167) kadındı. Hastaların ortalama yaşı 14,06±2,26 yıl (dağılım 3,7-19 yıl) idi. Hastaların sitolojik tanıları şu şekildeydi: %1,9’u tanı dışı veya yetersiz, %59,6’sı benign, önemi belirsiz atipi veya foliküler lezyon, %2,4’ü foliküler neoplazm şüpheli, %12,8’i malignite şüphesi, %1,9’u malign idi. 59 hastaya cerrahi uygulandı. Otuz üç hastaya malignite tanısı konuldu. Benign ince iğne aspirasyon biyopsisi sonucu olan hastaların %17,6’sında ameliyat olduklarında malignite saptandı. Önemi belirlenemeyen sitolojiye sahip atipi veya foliküler lezyonu olan hastaların %44,4’ünde malignite mevcuttu. İnce iğne aspirasyon biyopsisinin tanısal doğruluğu %79 idi. Sonuç: Bu çalışma, Türkiye’de çocuk ve ergenlerde tiroid nodüllerini araştıran ilk çok merkezli çalışmadır. Tiroid nodülü olan çocuklarda ince iğne aspirasyon biyopsisi tanıda önemli bir yere sahiptir ancak nodülün ultrasonografik özellikleri de dikkate alınmalıdır. Atipi veya önemi belirsiz foliküler lezyon bilinenden daha önemli olabilir.

Objective: Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood in Turkey. Methods: Patients aged 0-18 years, who were molecularly diagnosed with monogenic diabetes, and consented to participate, were included in the study. Results: Seventy-seven (45.6\%) female and 92 male cases with a mean age of 8.18 +/- 5.05 years at diagnosis were included. 52.7\% of the cases were diagnosed with monogenic diabetes by random blood glucose measurement. The reason for genetic analysis in 95 (56.2\%) of cases was having a family member diagnosed with diabetes under the age of 25. At the time of diagnosis, ketone was detected in urine in 16.6\% of the cases. Mean hemoglobin A1c on admission, fasting blood glucose, fasting insulin, and c-peptide values were 7.3 +/- 2.1\%, 184.9 +/- 128.9 mg/dL, 9.4 +/- 22.9 IU/L, 1.36 +/- 1.1 and ng/L respectively. GCK-MODY was found in 100 (59.2\%), HNF1A-MODY in 31 (18.3\%), and variants in ABCC8 in 6 (3.6\%), KCNJ11 in 5 (3\%), HNF4A in 2 (1.2\%), and HNF1B in 2 (1.2\%). Conclusion: Recent studies have indicated HNF1A-MODY is the most frequent of all the MODY-monogenic diabetes cases in the literature (50\%), while GCK-MODY is the second most frequent (32\%). In contrast to these reports, in our study, the most common form was GCK-MODY while less than 20\% of cases were diagnosed with HNF1A-MODY.

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).

siklar, zeynep/0000-0003-0921-2694; Eren, Erdal/0000-0002-1684-1053; Turan, Serap/0000-0002-5172-5402; Bas, Firdevs/0000-0001-9689-4464; Ercan, Oya/0000-0001-7397-2837; Bas, Serpil/0000-0001-6210-4807; berberoglu, merih/0000-0003-3102-0242; Torel Ergur, Ayca/0000-0002-7792-1727; Yel, Servet/0000-0001-6889-4504; Mengen, Eda/0000-0003-1597-8418 WOS:000469271100006 PubMed ID: 30396878 Objective: We aimed to report the characteristics at admission, diagnosis, treatment, and follow-up of cases of pediatric hyperprolactinemia in a large multicenter study. Methods: We reviewed the records of 233 hyperprolactinemic patients, under 18 years of age, who were followed by different centers. The patients were divided as having microadenomas, macroadenomas, drug-induced hyperprolactinemia and idiopathic hyperprolactinemia. Complaints of the patients, their mode of treatment (medication and/or surgery) and outcomes were evaluated in detail. Results: The mean age of the patients with hyperprolactinemia was 14.5 years, and 88.4% were females. In terms of etiology, microadenomas were observed in 32.6 %, macroadenomas in 27 %, idiopathic hyperprolactinemia in 22.7% and drug-induced hyperprolactinemia in 6.4 %. Other causes of hyperprolactinemia were defined in 11.3%. Common complaints in females (n = 206) were sorted into menstrual irregularities, headaches, galactorrhea, primary or secondary amenorrhea and weight gain, whereas headache, gynecomastia, short stature and blurred vision were common in males (n = 27). Median prolactin levels were 93.15 ng/mL, 241.8 ng/ml, 74.5 ng/mL, 93.2 ng/mL, and 69 ng/mL for microadenomas, macroadenomas, idiopathic hyperprolactinemia, drug-induced hyperprolactinemia, and other causes of hyperprolactinemia, respectively. Of 172 patients with hyperprolactinemia, 77.3 % were treated with cabergoline and 13.4 % with bromocriptine. 20.1 % of the patients with pituitary adenomas underwent pituitary surgery. 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. Turkish Pediatric Endocrinology and Diabetes Society [2015-1136]; National Pediatric Endocrinology Society This work was supported by a grant from the Turkish Pediatric Endocrinology and Diabetes Society (2015-1136). The authors would like to thank the National Pediatric Endocrinology Society for financial and technical support for the paper.

BACKGROUND Vitamin D, an important factor in calcium-phosphate homeostasis, has recently been suggested to play an important role in the pathogenesis of numerous chronic conditions such as hyperandrogenism. The aim of this study was to investigate the relationship between vitamin D status and premature adrenarche (PA). METHODS A total of 71 girls with PA and 52 healthy girls, as the control group, were recruited. Axillary and/or pubic hair development before the age of 8 years was defined as PA. Bone age and anthropometric measures including height, weight, and body mass index (BMI) were obtained. 25-Hydroxyvitamin D (25(OH)D), fasting plasma glucose and insulin were measured. Vitamin D insufficiency was defined as

Background The clinical, laboratory, genetic properties and final height of a large cohort of patients with nonclassical 21-hydroxylase deficiency (NC21OHD) in Turkey were analyzed. Methods This multicenter, nationwide web-based study collected data. Results The mean age was 9.79±4.35 years (229 girls, 29 boys). The most common symptoms were premature pubarche (54.6%) and hirsutism (28.6%). The peak cortisol was found below 18 μg/dL in three (15.45%) patients. A mutation was detected in the CYP21A2 gene of 182 (87.5%) patients. The most common mutation was V281L. Final height in female patients who were diagnosed and treated before attaining final height or near final height was found to be shorter than the final height in female patients who were diagnosed after attaining final height or near final height. Conclusions The final height of the patients who were treated during childhood was found to be shorter than the final height of patients during the adolescent period.