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Objective: Since Cushing's disease (CD) is less common in the paediatric age group than in adults, data on this subject are relatively limited in children. Herein, we aim to share the clinical, diagnostic and therapeutic features of paediatric CD cases. Design: National, multicenter and retrospective study. Patients: All centres were asked to complete a form including questions regarding initial complaints, physical examination findings, diagnostic tests, treatment modalities and follow‐up data of the children with CD between December 2015 and March 2017. Measurements: Diagnostic tests of CD and tumour size. Results: Thirty‐four patients (M:F = 16:18) from 15 tertiary centres were enroled. The most frequent complaint and physical examination finding were rapid weight gain, and round face with plethora, respectively. Late‐night serum cortisol level was the most sensitive test for the diagnosis of hypercortisolism and morning adrenocorticotropic hormone (ACTH) level to demonstrate the pituitary origin (100% and 96.8%, respectively). Adenoma was detected on magnetic resonance imaging (MRI) in 70.5% of the patients. Transsphenoidal adenomectomy (TSA) was the most preferred treatment (78.1%). At follow‐up, 6 (24%) of the patients who underwent TSA were reoperated due to recurrence or surgical failure. Conclusions: Herein, national data of the clinical experience on paediatric CD have been presented. Our findings highlight that presenting complaints may be subtle in children, the sensitivities of the diagnostic tests are very variable and require a careful interpretation, and MRI fails to detect adenoma in approximately one‐third of cases. Finally, clinicians should be aware of the recurrence of the disease during the follow‐up after surgery. [ABSTRACT FROM AUTHOR]

Objective: The aim was to analyze the incidence trend and annual average incidence change of type 1 diabetes (T1DM) in the population <18 years of age in Malatya province. Materials and Methods: Medical files of patients followed up with T1DM in pediatric endocrinology clinics were reviewed. The data for the child census was taken from the Turkish Statistical Institute (TUIK), and T1DM incidence was analyzed according to the calendar year, gender, and age groups. Recently diagnosed T1DM patients per 100 000 children per year were calculated. In addition, the trend in annual incidence change over the period 2007-2019 was analyzed. Results: The mean incidence of T1DM during the 13 years was 13.1/105 child years (13.8/105 child years for girls and 12.4/105 child years for boys). During the 13-year follow-up period, a significant increasing trend in the incidence of T1DM was detected. The average annual percent change (AAPC) was 8.3%. According to age groups, the average AAPC was 8.1% between 0 and 4 years old, 9.4% between 5 and 9 years old, 12.1% between 10 and 14 years old, and 30.1% between 15 and 17 years old. Conclusion: The incidence of T1DM in children under 18 years of age in Malatya, one of the largest cities in the Eastern Anatolia region of Turkey, was determined as 13.1/105 child years in the last 13 years and the average annual increase rate was 8.3%. [ABSTRACT FROM AUTHOR]

Introduction: Although more common in adults, autoimmune thyroiditis (AT) is one of the most common thyroid diseases in children and adolescents. Salivary gland involvement has been described in many studies of patients with AT. Several inflammatory scores are used to assess the inflammatory status of patients with systemic autoimmune diseases. We aimed to sonographically evaluate the parotid and submandibular salivary glands with inflammatory parameters in patients with AT in our study. Methods: Our study population consisted of 37 consecutive pediatric AT patients and 29 healthy control subjects. Ultrasonographic and laboratory evaluations of the study population were performed. Jamovi and MedCalc software were used to analyze the data. Results: The volume of the thyroid gland in the patients was significantly higher than that in the control group (p=0.030), while there was no difference in the volume of the salivary glands. Multiple logistic regression analysis was planned to assess the predictability of salivary gland involvement in patients with the disease. Both systemic immune-inflammation index (SII) and pan-immune inflammation value (PIV) were found to be predictors of salivary gland involvement in AT patients. Conclusion: We found that both SII and PIV inflammatory markers are predictive of salivary gland parenchymal changes in patients with AT, and SII is likely to be more valuable than PIV at this time. [ABSTRACT FROM AUTHOR]

Variants of the melanocortin-4 receptor (MC4R) gene are the most common cause of monogenic obesity. It has been shown that, while obesity cannot be controlled with diet and exercise, glucagon-like-peptide-1 receptor agonists (GLP-1 RA) provide weight loss in the short term. In this paper, our experience with liraglutide treatment in an adolescent patient carrying a MC4R gene variant is presented. A female patient was admitted first at the age of 12.5 years with a complaint of progressive weight gain. She had marked excess of appetite since infancy. On physical examination of the pubertal female patient with a body mass index (BMI) of 36.1 kg/m2 (3.48 standard deviation score), there was no pathological finding except diffuse acanthosis nigricans. Laboratory examinations revealed only insulin resistance. Weight loss was not achieved with lifestyle changes, metformin and orlistat treatments. On genetic examination, a sporadic heterozygous c.206T>G(p.I69R) variant that had been reported previously, was found in MC4R gene. Treatment with the GLP-1 RA, liraglutide, was initiated and a 19.2% reduction was achieved in the body weight and BMI at the end of 32 weeks. However, the patient, whose treatment compliance was disrupted due to significant gastrointestinal complaints, returned to her former weight within a few months (13 weeks) after treatment was stopped. In this case with a known pathogenic variant in MC4R gene, decrease of appetite and weight loss were achieved with liraglutide treatment, but side-effects of this treatment led to discontinuation of therapy. In such cases, there is need for effective and tolerable treatment options. [ABSTRACT FROM AUTHOR]

Objective: With the diagnosis of chronic illness in children, a stressful period is likely to begin for both the affected child and their families. The aim of this study was to investigate the factors affecting chronic disease management by the parents of children diagnosed with type 1 diabetes mellitus (T1DM). Methods: The sample consisted of 110 children, aged between 4-17 years and their mothers. The patients had been diagnosed with T1DM for at least one year, and had attended pediatric endocrinology outpatients or were hospitalized in a single center. First, sociodemographic information about the child with T1DM were obtained. Then, the “Family Management Measure” (FaMM) was applied. The FaMM is constructed to measure family functioning and management in families who have a child with a chronic illness. Results: Paternal years of education (p=0.036), family income (p=0.008), insulin pump use (p=0.011), and time elapsed after diagnosis (p=0.048) positively affected both the management of T1DM and the child’s daily life. However, presence of chronic diseases in addition to T1DM (p=0.004) negatively affected diabetes management. Higher maternal education year (p=0.013) and family income level (p=0.001) increased parental mutuality scores. However, as the time after diagnosis increased, parental mutuality scores decreased. Conclusion: It is important to evaluate the child with chronic disease with a biopsychosocial approach. This approach aims to evaluate the problems of the child and his/her family who experience the disease with a holistic approach. [ABSTRACT FROM AUTHOR]

Copyright of Ege Journal of Medicine is the property of Ege University, Faculty of Medicine and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: The effect of subclinical hypothyroidism on glucose and lipid metabolism in obese children is controversial. This study aims to compare cardiovascular risk factors in obese patients with or without subclinical hypothyroidism and determine the frequency of subclinical hypothyroidism in obese children and adolescents. Materials and Methods: A total of 1130 obese children and adolescents aged 6-18 years were included in this single-center cross-sectional study. Metabolic parameters such as thyrotropin, free thyroxine, free triiodothyronine, homeostasis model assessment for insulin resistance, atherogenic index, and lipids were evaluated. The patients were divided into two groups--subclinical hypothyroidism group (free thyroxine normal, thyroid-stimulating hormone 5.5-10 mlU/L) (n = 59) and the control group (free thyroxine normal, thyroid-stimulating hormone < 5 mlU/L) (n = 1071). Results: Subclinical hypothyroidism was detected in 59 (5.2%) of 1130 patients. The mean body mass index was similar in both groups. The mean serum insulin, homeostasis model assessment for insulin resistance, triglyceride, atherogenic index of plasma, aspartate aminotransferase, and alanine aminotransferase levels were higher in the subclinical hypothyroidism group, and the mean high-density lipoprotein cholesterol level was lower than the control group (P = .005, P < .001, P = .028, P < .001, P = .001, P < .001, and P = .018, respectively). While a positive correlation was observed between the thyroid-stimulating hormone levels and insulin, homeostasis model assessment for insulin resistance, alanine aminotransferase, triglyceride, and basal cortisol levels, a negative correlation was found between thyroid-stimulating hormone and high-density lipoprotein cholesterol. Conclusion: Subclinical hypothyroidism can negatively affect the lipid and glucose profile. [ABSTRACT FROM AUTHOR]

An activating variant of the thyroid stimulating hormone receptor (TSHR) gene is one of the rare causes of neonatal hyperthyroidism. This disorder may occur as a result of an autosomal dominant inheritance or sporadically through de novo variation. Here we present a case of neonatal onset congenital non-autoimmune hyperthyroidism (NAH) with a sporadic germline activating TSHRV656F variant. A female infant with tachycardia, who was transferred due to hyperthyroidism in the first week of life, displayed no other symptoms or signs. The patient’s mother did not have Graves’ disease, and TSHR stimulating antibodies were not present in the mother or baby. Imaging showed thyroid gland hyperplasia and left ventricular hypertrophy, the patient was subsequently put on methimazole treatment. After six months undergoing treatment, a heterozygous p.Val656Phe (V656F) (c.1966G>T) variant was detected on exon 10 of the TSHR gene. The variant was not identified in the mother and father, so the case was assumed to be sporadic. In conclusion, although the literature describes V656F variant as a somatic variant in children and adults with toxic thyroid nodule(s) that results in the structural activation of the TSH receptor, no previous cases of neonatal hyperthyroidism due to TSHRV656F variant have been reported. This study is the first case review that highlights the relationship between TSHRV656F variant and neonatal onset NAH. [ABSTRACT FROM AUTHOR]

Copyright of Van Tip Dergisi is the property of Yuzuncu Yil University, Faculty of Medicine and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

High doses of oral calcium or long-term calcium infusions are recommended to correct the hypocalcemia and secondary hyperparathyroidism in patients with hereditary 1,25 dihydroxyvitamin D3-resistant rickets (HVDRR). Preliminary studies revealed that calcimimetics may be a safe and effective therapeutic choice in children with secondary hyperparathyroidism. Our aim was to observe the efficacy of cinacalcet in the normalization of secondary hyperparathyroidism and hypophosphatemia in two siblings aged 2.5 years and 6 months with HVDRR who did not respond to traditional treatment regimes. Both patients were admitted to the hospital with severe hypocalcemia. They were treated with high doses of calcitriol and calcium infusions intravenously. Secondary hyperparathyroidism was normalized temporarily, but did not improve completely. Cinacalcet (0.25 mg/kg) once a day along with the high doses of oral calcium and calcitriol was added to the treatment schedule. After 3 months, biochemical and radiologic findings reverted to normal. Our findings indicate that cinacalcet is effective in normalizing the hyperparathyroidism and hypophosphatemia in these cases and in improving the bone pathology. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Turgut Ozal Medical Center is the property of Annals of Medical Research and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)