Search

A balanced and healthy diet is very important in type 1 diabetes mellitus (T1DM) in childhood. In addition to regulating blood glucose with diet, diet should also support optimal growth. Low-carbohydrate diet aims to provide daily energy from fats and was originally used for childhood epilepsy. We present a patient with T1DM who experienced unfavorable effects when on a low-carbohydrate diet. [ABSTRACT FROM AUTHOR]

Nutritional rickets (NR) is still an important problem and one which increasing influxes of immigrants are further exacerbating. This study evaluated cases of mostly immigrant children followed up with diagnoses of NR in our pediatric endocrinology clinic. Details of 20 cases diagnosed with NR between 2017 and 2020 were retrieved from file records. Twenty (11 male) cases were included in the study. Three (15%) were Turkish nationals and the others (85%) were immigrants. Hypocalcemia and hypophosphatemia were detected in 17 and 13, respectively. Alkaline phosphatase (ALP) values were normal in two cases, while ALP and parathyroid hormone (PTH) values were elevated in all other cases, and PTH levels were very high (473.64 ± 197.05 pg/mL). 25-hydroxyvitamin D levels were below 20 ng/mL in all cases. Patients with NR received high-dose long-term vitamin D or stoss therapy. Six patients failed to attend long-term follow-up, while PTH and ALP levels and clinical findings improved at long-term follow-up in the other 14 cases. The elevated PTH levels suggest only the most severe cases of NR presented to our clinic. Clinically evident NR is therefore only the tip of the iceberg, and the true burden of subclinical rickets and osteomalacia remains unidentified. Public health policies should therefore focus on universal vitamin D supplementation and adequate dietary calcium provision, their integration into child surveillance programs, adequate advice and support to ensure normal nutrition, exposure to sunlight, and informing families of the increased risk not only for resident populations but also for refugee and immigrant children. [ABSTRACT FROM AUTHOR]

Objective: We aimed to evaluate the clinical, radiological and pathological findings of children and adolescents with thyroid nodules. Methods: Data of 121 children and adolescent with thyroid nodules and had fine needle aspiration (FNA) were examined retrospectively. Concomitant thyroid disease, ultrasonography (US) features of the nodule, FNA and histopathological results were recorded. FNA results were assessed according to The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC). Results: Median (range) age of the cases was 14 (3-18) years and 81% were female. FNA results of patients were: insufficient in 1 (0.8%); benign in 68 (56.2%); indeterminate in 44 (36.4%); and malignant in 8 (6.6%) patients. Among 39 patients who underwent surgery, 10 (25.6%) had differentiated thyroid cancer (DTC) and the overall malignancy rate was 10.0% (10/100). Follow-up FNA results showed progress based on TBSRTC in 18.7% of benign results and 4/75 patients had DTC on surgical excision. Two of 22 patients with atypia of undetermined significance (AUS) who continued follow-up was diagnosed with DTC. Male gender, presence of Hashimoto thyroiditis and US findings of uninodularity, hypoechogenicity, increased blood flow, irregular margins, solid structure, microcalcification and presence of abnormal cervical lymph nodes were associated with malignancy. Conclusion: In this study 10% of thyroid nodules were malignant in children and adolescents. Patients with AUS have a 9% potential for malignancy. Patients with initially benign FNA result may have changes on repeat FNA when assessed with TBSTRC indicating a 5.3% false negative rate. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate the ocular surface characteristics based on Schirmer's test, tear break-up time (TBUT), and conjunctival impression cytology (CIC) in children with Hashimoto's thyroiditis (HT).Methods: This study included 51 children with HT and 53 control subjects. The ocular surface characteristics of participants were assessed via Schirmer's test, TBUT, and CIC. Conjunctival samples were examined cytologically according to the Nelson grading system.Results: Schirmer's and TBUT results were significantly lower in HT group (p < .05). All samples in both the study and control groups were evaluated as grade 0 according to the Nelson classification (p = .841), however, goblet cell density (GCD) was significantly lower in HT group (p = .001). Schirmer test results were significantly associated with the duration of HT (p = .025, r = -0.311).Conclusion: Hashimoto's thyroiditis without any ocular complaints may cause ocular surface changes with TBUT and Schirmer's. Although CIC analysis showed similar grading results, GCD was significantly decreased in HT group. [ABSTRACT FROM AUTHOR]

Objective: 5-Hydroxymethylfurfural (HMF) is formed when sugars are heated in the presence of amino acids. HMF is naturally present in many foods. To investigate the toxic effects of HMF on the reproductive system of peripubertal rats. Methods: In the study, 24 immature female Wistar rat were divided into three groups: control (CT) fed with no HMF; low dose fed with 750 mg/kg/day of HMF and high dose (HD) groups fed with 1500 mg/kg/day of HMF. All groups received these diets for three weeks from postnatal day (PND) 21. The vaginal opening (VO) was monitored daily and euthanasia occurred on PND 44. Gonadotropin, estradiol (E2), progesterone and anti-Müllerian hormone (AMH) concentrations were measured. Reproductive organ weights and ovarian follicle counts were compared. Results: The HD HMF group had earlier VO. Higher mean luteinising hormone (2.9±1.2 vs 1.3±0.3 mIU/mL) and mean E2 (34.7±8.8 vs 21.2±3.9 pg/mL) and lower mean AMH (2.7±0.5 vs 4.7±0.7 ng/mL) concentrations were found in the HD compared to the CT group. The HD group also had increased number of secondary atrophic follicles. Conclusion: These results indicate that peripubertal exposure to HMF at HD result in precocious puberty and decreased AMH levels in female Wistar rats. [ABSTRACT FROM AUTHOR]

Background: Diabetic nephropathy (DN) is a significant cause of morbidity and mortality in young adults with type 1 diabetes (T1D). Microalbuminuria (MA) is generally considered as the earliest manifestation of DN. However, it has been shown that MA may be temporary and not reflect permanent renal failure. For this reason, sensitive markers are needed for the detection of kidney damage in the early period. Urinary tubular injury markers increase in the early period of diabetes. These tubular markers are rather indicators of acute renal damage. The objective of this study was to measure the urinary netrin-1 level, a marker of tubular injury in children with normoalbuminuric (NA) T1D, and to determine its relationship with short-term fluctuations in blood glucose using fructosamine levels. Methods: Netrin-1 levels in spot urine samples from 82 children with T1D (median age 13.6 years) without MA or hypertension and from 59 healthy controls (median age 11.3 years) with a similar distribution of age and body mass index (BMI) were compared. The relationship of the netrin-1 levels with diabetes parameters such as fructosamine, hemoglobin A1c (HbA1c) or duration of diabetes was investigated. Results: Urinary netrin-1 level was found to be higher in patients with T1D than in healthy controls (590 [interquartile range (IQR) = 811] pg/mg-creatinine [pg/mg-cr] and 396 [IQR = 742] pg/mg-cr, respectively) (p = 0.03). Urinary netrin-1 was found to correlate with HbA1c (p = 0.007, r = 0.320) and fructosamine (p = 0.04, r = 0.310) but not with average HbA1c in the last year (p = 0.14, r = −0.19), duration of diabetes (p = 0.83, r = 0.02) or other diabetes indices. Conclusions: These results support the idea that tubular damage occurs early in the course of diabetes. However, the fact that netrin-1 is related to fructosamine and HbA1c but not to the duration of diabetes or average HbA1c in the last year may suggest that the tubular damage markers are affected by short-term fluctuations in blood glucose. [ABSTRACT FROM AUTHOR]

Osteopoikilosis (OPK) is a rare, benign condition characterized by osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrists, feet, ankles, pelvis, and scapulae. We report a 16-year-old boy and his mother incidentally found to have sclerotic lesions on X-ray. Both of them were asymptomatic and the bone scan of the boy ruled out osteoblastic metastases. We have shown that the boy and his mother have a previously unknown pathogenic variant of the LEMD3 gene, supporting the diagnosis of osteopoikilosis. [ABSTRACT FROM AUTHOR]

Abnormal uterine bleeding (AUB) is the most common gynecologic complaint of adolescents admitted to hospital. Heavy menstrual bleeding (HMB) is the most frequent clinical presentation of AUB. Anovulatory cycles, owing to immature hypothalamic-pituitary-ovarian axis, is the leading etiology of HMB and there is an accompanying bleeding disorder in almost 20% of patients with HMB. Additionally, endocrine disorders such as hypothyroidism, hyperprolactinemia and polycystic ovary syndrome are possible causes of AUB. Exclusion of bleeding disorders, especially of von Willebrand disease is important for diagnosis and treatment of HMB, particularly in cases with AUB, which has been present since menarche. Management of HMB is based on the underlying etiology and severity of the bleeding. After other causes are excluded, anovulatory heavy bleeding can be treated successfully with combined oral contraceptives and iron supplementation either as an outpatient or in hospital depending on the clinical findings and level of anemia. The epidemiology, clinical presentation, diagnostic approach and treatment of HMB is discussed and our clinical experience in this field is presented in this review. [ABSTRACT FROM AUTHOR]

Objective: Zinc transporter 8 protein (ZnT8A) is a transmembrane protein which functions to transfer zinc to insulin vesicles. Antibodies formed against ZnT8A (ZnT8A) are regarded as an independent autoimmunity demonstrator in type 1 diabetes (T1D). The aim of this study was to investigate the prevalence of ZnT8A in Turkish children with new onset T1D. Method: Eighty four patients between 1-18 years of age diagnosed with T1D between February 2015-March 2016 and the control group consisting of 50 healthy children without any autoimmune diseases were included in the study. Serum samples for ZnT8A testing were taken from the patient group within a week of diagnosis. A ZnT8A enzyme-linked immunosorbent assay was used in the analyses. Results: ZnT8A positivity was detected in 58% of the patients with new onset T1D and 8% of the control group. ZnT8A were demonstrated in 5 of 11 patients with negative results for classical diabetes antibodies [insulinoma antigen-2 antibody (IA-2A), glutamic acid decarboxylase (GAD) or insulin autoantibodies]. No association was found between ZnT8A positivity and age, gender, presence or degree of ketoacidosis at presentation, hemoglobin A1c, insulin or C-peptide concentration, or the presence of either thyroid or celiac antibodies. Conclusion: ZnT8A prevalence in children with T1D in Turkey was compatible with the literature. The ratio of patients who are clinically considered to have T1D but have negative routine diabetes auto-antibodies were observed to decrease nearly by 50% when ZnT8 antibodies were added to the panel. ZnT8 measurement should be more widespread for clarifying the etiology in T1D. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the thiol/disulphide homeostasis in children with non-autoimmune subclinical hypothyroidism (SHT).Subjects and Methods: Thiol/disulphide homeosta sis, involving native thiol (SH), disulphide (SS), and total thiol (SS + SH), was evaluated in 60 children and adolescents who were negative for thyroid auto-antibodies (anti-thyroid peroxidase, anti-thyroglobulin) and had a thyroid-stimulating hormone (TSH) value of > 5 mIU/L, and in 40 sex- and age-matched healthy control subjects who were negative for thyroid autoantibodies and had normal TSH levels. Lipid profiles and urine iodine levels were also determined.Results: SH (466 ± 32.8 vs. 462 ± 32.1 μmol/L p = 0.59), SH + SS (508 ± 34.0 vs. 506 ± 32.7 μmol/L, p = 0.81), SS (21 ± 5.5 vs. 22 ± 5.8 μmol/L, p = 0.41), SS/SH (4.5 ± 1.2 vs. 4.8 ± 1.3%, p = 0.36), SS/SH + SS (4.1 ± 1.0 vs. 4.3 ± 1.1%, p = 0.36) and SH/SH + SS (91 ± 2.1 vs. 91 ± 2.1%, p = 0.31) levels were similar in children with SHT and control subjects (p > 0.05). There was no difference between total cholesterol, triglyceride, and low-density lipoprotein levels in SHT patients and controls. No difference was detected between the patients with or without iodine deficiency in the SHT group in terms of thiol/disulphide homeostasis parameters.Conclusion: The status of dynamic thiol/disulphide homeostasis did not change in children and adolescents with non-autoimmune SHT. Future studies are needed for the evaluation of oxidative stress in patients with long-standing non-autoimmune SHT. [ABSTRACT FROM AUTHOR]

Congenital hyperinsulinism (CHI) is the most common cause of neonatal persistent hypoglycemia caused by mutations in nine known genes. Early diagnosis and treatment are important to prevent brain injury. The clinical presentation and response to pharmacological therapy may vary depending on the underlying pathology. Genetic analysis is important in the diagnosis, treatment, patient follow-up, and prediction of recurrence risk within families. Our patient had severe hypoglycemia and seizure following birth. His diagnostic evaluations including genetic testing confirmed CHI. He was treated with a high-glucose infusion, high-dose diazoxide, nifedipine, and glucagon infusion. A novel homozygous mutation (p.F315I) in the KCNJ11 gene, leading to diazoxide-unresponsive CHI, was identified. Both parents were heterozygous for this mutation. Our patient's clinical course was complicated by severe refractory hypoglycemia; he was successfully managed with sirolimus and surgical intervention was not required. Diazoxide, nifedipine, and glucagon were discontinued gradually following sirolimus therapy. The patient was discharged at 2 months of age on low-dose octreotide and sirolimus. His outpatient clinical follow-up continues with no episodes of hypoglycemia. We present a novel homozygous p.F315I mutation in the KCNJ11 gene leading to diazoxide-unresponsive CHI in a neonate. This case illustrates the challenges associated with the diagnosis and management of CHI, as well as the successful therapy with sirolimus. [ABSTRACT FROM AUTHOR]

Objective: Childhood-onset obesity is associated with increased mortality and morbidity related to cardiovascular diseases (CVD) during adulthood. Dyslipidemia has a fundamental role in the pathogenesis of CVD. This study aimed to evaluate the prevalence of dyslipidemia and related factors among obese children and adolescents. Methods: Obese patients aged between 2 and 18 years were included in the study. Serum concentrations of total cholesterol (TC), triglyceride (TG), low-density lipoprotein (LDL-C), high-density lipoprotein (HDL-C), fasting glucose levels, insulin, thyroid-stimulating hormone (TSH), free thyroxine (fT4), alanine aminotransferase (ALT), aspartate aminotransferase (AST), and liver ultrasound findings were evaluated retrospectively. Results: Among 823 obese patients, 353 (42.9%) met the dyslipidemia criteria: 21.7% had hypertriglyceridemia, 19.7% had low levels of HDL-C, 18.6% had hypercholesterolemia, and 13.7% had high levels of LDL-C. Older age and/or high body mass index (BMI) were related to increased prevalence of dyslipidemia. Hepatosteatosis was more common among dyslipidemic patients. The frequency of insulin resistance (IR) and of higher levels of ALT and TSH were also detected in dyslipidemic patients. Patients with both dyslipidemia and grade 2-3 hepatosteatosis had higher levels of ALT, AST and TSH and lower levels of fT4. Conclusion: Prevalence of dyslipidemia is high in obese children, and hypertriglyceridemia is in the foreground. Higher levels of IR and more apparent abnormal liver function test results are observed in the context of dyslipidemia and hepatosteatosis coexistence. Metabolic and hormonal alterations related with thyroid functions may also be associated with dyslipidemia and hepatosteatosis in obese patients. [ABSTRACT FROM AUTHOR]

Objectives: Nutritional rickets (NR) is still an important problem and one which increasing influxes of immigrants are further exacerbating. This study evaluated cases of mostly immigrant children followed up with diagnoses of NR in our pediatric endocrinology clinic., Methods: Details of 20 cases diagnosed with NR between 2017 and 2020 were retrieved from file records., Results: Twenty (11 male) cases were included in the study. Three (15%) were Turkish nationals and the others (85%) were immigrants. Hypocalcemia and hypophosphatemia were detected in 17 and 13, respectively. Alkaline phosphatase (ALP) values were normal in two cases, while ALP and parathyroid hormone (PTH) values were elevated in all other cases, and PTH levels were very high (473.64 ± 197.05 pg/mL). 25-hydroxyvitamin D levels were below 20 ng/mL in all cases. Patients with NR received high-dose long-term vitamin D or stoss therapy. Six patients failed to attend long-term follow-up, while PTH and ALP levels and clinical findings improved at long-term follow-up in the other 14 cases., Conclusions: The elevated PTH levels suggest only the most severe cases of NR presented to our clinic. Clinically evident NR is therefore only the tip of the iceberg, and the true burden of subclinical rickets and osteomalacia remains unidentified. Public health policies should therefore focus on universal vitamin D supplementation and adequate dietary calcium provision, their integration into child surveillance programs, adequate advice and support to ensure normal nutrition, exposure to sunlight, and informing families of the increased risk not only for resident populations but also for refugee and immigrant children., (© 2021 Walter de Gruyter GmbH, Berlin/Boston.)