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Children with thalassemia major (TM) are prone to growth failure and micronutrient deficiency. Thus, this study aimed to evaluate nutritional status, anthropometrics, and bone mineralization defects in patients with regular blood transfusion.Data obtained were analyzed by evaluating laboratory tests, anthropometric measures, and bone mineral density.This study included 29 patients (62% male and 38% female) with a mean age of 12.26±4.74 years, mean pre-transfusion hemoglobin of 8.64±1.01 g/dL, and mean serum ferritin of 1158.6±556.8 ng/ mL. Vitamin D (72.4%), selenium (72.4%), and folate (37.9%) deficiencies were most frequent. Hypocalcemia was observed in 17.2%, hypomagnesemia in 3.5%, and decreased ceruloplasmin in 10.3% of patients. Folate was higher between 2 and 6 years old (p=0.028). Ceruloplasmin was higher between 6 and 10 years old (p=0.018). Selenium was significantly higher in patients with a ferritin of ≥1,500 (p=0.008). No significant ferritin-related differences were found in other micronutrients (p0.05). Body mass index (BMI) were5 percentile (p) in 31% of patient, whereas none was95 p. Height in 24.5% and weight in 20.7% of patients were3 p, whereas none with97 p. BMI of patients aged 10-18 years was significantly higher (p=0.001). Anthropometric percentiles did not significantly differ in the mean serum ferritin and micronutrient levels. Hypoparathyroidism was observed in 13.8% and hypothyroidism in 3.5% of patients. Low bone density was detected in 14.8% (2 osteopenic and 2 osteoporotic) of patients. Bone mineral density did not significantly differ in the ferritin and micronutrient levels.Nutritional support and deficiency prevention are important to minimize the burden of complications and increase the life expectancy and quality in patients with TM.Talasemi majör (TM) tanılı çocuklar büyüme geriliğine ve mikrobesin eksikliklerine yatkındırlar. Bu çalışmada, düzenli transfüzyon uygulanan hastalarda mikro besin seviyelerini, antropometrik ölçümleri, kemik mineralizasyon defektlerini değerlendirmeyi amaçladık.Laboratuvar testlerini, antropometrik ölçümleri ve kemik mineral yoğunluğunu değerlendirerek elde edilen verileri analiz ettik.Çalışmaya ortalama yaşı 12,26±4,74 yıl, ortalama transfüzyon öncesi hemoglobin 8,64±1,01 g/dL, ortalama serum ferritin 1158,6±556,8 ng/mL olan 29 hasta (%62’si erkek, %38’i kız) alındı. En sık vitamin D (%72,4), selenyum (%72,4) ve folat (%37,9) eksikliği saptandı. Hastaların %17,2’de hipokalsemia, %3,5 hipomagnesemi, %10,3 seruloplazmin düşüklüğü saptandı. Folat 2≤ ile6 yaş arasında, seruloplazmin 6≤ ile10 yaş arasında daha yüksek saptandı (sırasıyla p=0,028, p=0,018). Selenyum, ferritin ≥1.500 olan hastalarda anlamlı olarak yüksekti (p=0,008). Diğer mikrobesin düzeylerinde ferritin düzeyi ilişkili anlamlı farklılık saptanmadı (p0,05). Hastaların %31’inin vücut kitle indeksi (VKİ) 5. Persentilin (p) altındaydı. VKİ 95. p’nin üzerinde olan hasta saptanmadı. Hastaların %24,5’inin boyu, %20,7’sinin vücut ağırlığı 3. p’nin altındaydı. Boy ve vücut ağırlığı açısından 97. p’nin üzerinde olan hasta saptanmadı. Antropometrik ölçümlerin, hastaların kan mikrobesin ve ferritin düzeyleri ile anlamlı bir ilişkisi saptanmadı. On-18 yaş arasındaki hastaların VKİ anlamlı olarak daha yüksek bulundu (p=0,001). Antropometrik ölçümler, ortalama ferritin ve mikrobesin düzeyleri açısından anlamlı farklılık göstermedi. Hastaların %20,8’de endokrinolojik bozukluklar (hipoparatiroidi %13,8, hipotiroidi %3,5) gözlendi. Hastaların %14,8’inde (2 osteopenik, 2 osteoporotik) düşük kemik yoğunluğu saptandı. Kemik mineral yoğunluğunun mikrobesin ve ferritin düzeyleriyle anlamlı ilişkisi saptanmadı.TM hastalarında nütrisyonel eksikliklerin önlenmesi ve beslenme desteğinin sağlanması kemik mineralizasyon bozuklukları ve büyüme geriliği gibi komplikasyonların gelişiminin en aza indirilmesi açısından önemlidir.

Objective: Soluble endoglin (S-endoglin) has been implicated as a potential marker of endothelial dysfunction (ED) and was reported to be elevated in diabetic adults, correlating with the severity of diabetic vasculopathy. However, circulating S-endoglin and its association with other markers of ED have not been formerly analyzed in the first decade of diabetes onset in adolescents with type 1 diabetes mellitus (T1DM). Methods: Fifty-eight adolescents with moderately/poorly controlled T1DM were included in this study and twenty-nine healthy adolescents served as controls. The diabetic group was divided into two groups based on the presence of microalbuminuria, as the microalbuminuria group (n=15) and the normoalbuminuria group (n=43). Functional vascular alterations were evaluated by measuring serum S-endoglin and plasma nitric oxide (NO) concentrations, the flow-mediated dilatation (FMD) of the brachial artery. Carotid intima media thickness (CIMT) was measured for evaluation of structural vascular alterations. Results: The S-endoglin and NO levels of both microalbuminuria and normoalbuminuria groups were higher than those of the control group (for S-endoglin, p=0.047 and p

Cardio-facio-cutaneous (CFC) syndrome is a rare disorder characterized by craniofacial dysmorphia, ectodermal abnormalities, cardiac malformations, as well as growth and developmental delay. Although some endocrine abnormalities have been reported in this syndrome, very little is known about CFC syndrome-related endocrine disorders. A 7.5-year-old boy was admitted to our endocrinology clinic with the complaint of short stature. He had a height of 103 cm [-4 standard deviation (SD)], a weight of 16 kg (3(th) percentile, -1.7 SD), a facial appearance typical for the CFC syndrome, optic nerve hypoplasia and pulmonary stenosis. Genetic investigation revealed a heterozygous mutation in exon 3 of the MEK1 gene, c.389AG (p. Y130C). During his long-term follow-up, the patient developed a variety of endocrine disorders including precocious puberty, growth hormone deficiency and hyperprolactinemia.

Objective: Infections remain the major cause of unnecessary antibiotic use in pediatric outpatient settings. Complete blood count (CBC) is the essential test in the diagnosis of infections. C-reactive protein (CRP) is also useful for assessment of young children with serious bacterial infections. The purpose of the study was to evaluate leukocyte populations and CRP level to predict bacterial infections in febrile outpatient children. Materials and Methods: The values of CBC by Cell-DYN 4000 autoanalyzer and serum CRP levels were evaluated in 120 febrile patients with documented infections (n:74 bacterial, n:46 viral) and 22 healthy controls. Results: The mean CRP, neutrophil and immature granulocyte (IG) values were significantly higher in bacterial infections than in viral infections and controls (p

Arachnoid cysts (ACs), particularly suprasellar cysts, cause a wide spectrum of endocrine disorders. Herein, we report two patients diagnosed with an extensive AC in the middle cranial fossa while being investigated for etiologies of precocious puberty and short stature. One of them required surgery due to his pubertal disorders associated with compression effects of cyst. After surgery, his puberty progression was regressed within one year. On the other hand, surgery was not planned for the second patient considering of his cranial imaging findings and the extremely low incidence of growth hormone (GH) deficiency caused by middle fossa AC (MFAC). We started treatment with recombinant human GH and no complication was found during treatment follow-up. Endocrine disorders associated with MFACs are extremely rare. By presenting with these two cases, we aimed to remain our fellow physcians that ACs can be possibly cause of endocrine disorders. Clinicians should be careful evaluating endocrine disorders because real cause may not be cyst itself but masked by it.