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Introduction: Benign acute myositis of childhood (CABM) is a self-resolving clinical picture that usually affects school-age children, characterized by symmetrical calf pain and sudden refusal to walk, and is accompanied by elevated creatine phosphokinase (CK). The aim of our study is to reveal the characteristics of our CABM cases. Materials and Methods: Patients who applied to the Pediatric Emergency Department and Pediatrics Outpatient Clinic of our hospital between October 2019 and March 2020 with an upper respiratory tract infection and were diagnosed with CABM were included retrospectively. The patients' chronological age, hemogram, CRP, AST, ALT, LDH, CK, CK-MB levels recorded in the hospital information management system were evaluated. Statistical analyzes were performed with IBM SPSS Statistics for Windows 22.0 software. Results: Of the 52 cases with a mean age of 6.4±2.9 (5.0-12.9) years, 71.2% (n=37) were male. While 92.8% (n=48) of the patients presented with complaints of inability to walk following an upper respiratory tract infection (URTI), 5.8% (n=3) had URTI and abdominal pain; 1.9% (n=1) applied with complaints of URTI and chest pain. The mean serum CK level measured at the first admission was 1777.4±2320.5 (188-11383) IU/L, and a significant decrease was found on the 4th day of admission, with a mean level of 1104.3±1720.5 (81-7190) IU/L (p=0.011). Similarly, significant improvement was observed in AST, ALT, and LDH levels on the 4th day (p=0.053, p=0.001, p=0.043). Conclusion: We found that CABM was observed 2.4 times more frequently in boys than in girls, and the CK level decreased significantly on the 4th day of admission. Although it is a worrying situation due to the sudden and rapid initial findings; It should be kept in mind that it is a benign picture due to its spontaneous and rapid recovery and results in recovery without sequelae, and unnecessary and repetitive examinations should be avoided in this process. [ABSTRACT FROM AUTHOR]

Objective: Maturity-onset diabetes of the youth (MODY) is a genetically and clinically heterogeneous group of diseases which is often misdiagnosed as type 1 diabetes or type 2 diabetes. The aim of this study is to identify the occurence of mutations in subjects classified clinically as having MODY, and to determine phenotypic features and their long-term monitering consequences. Methods: Eighteen probands were selected based on the clinical criteria of MODY. Firstly, in patients with mild stable fasting hyperglycemia who did not progress, Sanger sequencing of GCK gene was performed as GCK-MODY was the most common cause of persistent and incidental hyperglycemia in the pediatric population. Patients without a GCK gene mutation or without mild fasting hyperglycemia were analysed by using targeted next-generation sequence for seven known monogenic genes of diabetes (ABCC8, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11) to identify the molecular pathology. Results: We identified 11 GCK, 2 HNF1A, 2 KCNJ11 mutations in 18 probands. Eleven of them (73%) were previously reported and 4 of them (27%) were assessed as novel mutations. In two patients who were treated with insulin before the molecular analysis, insulin was switched to sulfonylurea and glibenclamide, after determination of pathogenic variants in HNF1A and KCNJ11, respectively. Retinopathy or nephropathy was not detected among the patients. Conclusion: The MODY has a large spectrum of clinical presentations. We detected 4 novel mutations among our cohort. Although GCK-MODY was the most frequent type of our study population, identification of rare MODY types and follow-up of these patients would help us better understand monogenic diabetes. [ABSTRACT FROM AUTHOR]

Background: Some studies have examined the effect of gonadal suppression on insulin-like growth factor-1 (IGF-1) levels and the growth velocity (GV) with conflicting results. Methods: Forty-four girls treated with gonadotropin-releasing hormone analogue (GnRHa) for central precocious puberty (CPP) were included in the study. IGF-1 levels were examined at the beginning and after 12 months of treatment. Results: IGF-1 and IGF-1 standard deviation score (SDS) according to chronological age (CA-IGF-1 SDS) at diagnosis were positively correlated with chronological age (CA), anthropometric measurements, stage of puberty, bone age (BA), BA-CA, follicle-stimulating hormone (FSH), luteinising hormone (LH), oestradiol, uterus length, endometrium thickness and ovarian volume (OV) at diagnosis (p < 0.05). There was no significant difference in IGF-1 levels after treatment. However, there was a negative correlation between ΔIGF-1 SDS and IGF-1 level, CA-IGF-1 SDS and BA-IGF-1 SDS at diagnosis (p < 0.05). There was no correlation between GV and IGF-1, ΔIGF-1. GV was negatively correlated with basal LH level at diagnosis (p = 0.008, r = −0.397). Peak LH levels of the patients who had GV-SDS < 0 were more suppressive than those of the patients who had GV-SDS > 0 after 12 months of treatment. Conclusions: It was determined that the IGF-1 level and CA-IGF-1 SDS at baseline were correlated with more advanced pubertal stage prior to treatment. Initiation of treatment with a relatively high level of IGF-1 increased the risk of a decrease in the IGF-1 level. Likewise, the initiation of treatment with a relatively high LH level may increase the risk of low GV, but low GV was not related to the IGF-1 level. Increased sex steroid suppression may increase the risk of low GV. [ABSTRACT FROM AUTHOR]

Background/aim: Congenital hypothyroidism (CH) is divided into two groups as 'permanent' and 'transient'. We aimed to determine the rate of transient and permanent congenital hypothyroidism of the newborns referred to our clinic. Materials and methods: Of the newborns who were referred to our clinic from the neonatal screening program, those who were diagnosed with CH and started treatment were included in the study. he treatments of the patients whose required daily treatment dose was reduced to under 1 µg/kg were terminated and those who were followed monthly and whose fT4 and thyroid-stimulating hormone (TSH) levels were normal at least 3 times without treatment were considered to have transient hypothyroidism. Results: Of the 256 newborns referred to our clinic from the neonatal screening program, 114 (44.5%) were diagnosed with CH. Of the CH patients, 70% (n = 58) were evaluated to have permanent and 30% (n = 25) transient hypothyroidism. Neonatal and serum TSH levels and treatment doses were found to be signiicantly lower in the transient hypothyroidism patients. Conclusion: Initial measurements of the serum TSH level and the required doses of L-thyroxine therapy for maintaining normal thyroid hormone levels, growth, and development may have a predictive role for diferentiating permanent forms of CH from transient forms. [ABSTRACT FROM AUTHOR]

Bruck syndrome is an extremely rare disorder featuring the unusual combination of skeletal changes resembling osteogenesis imperfecta with congenital contractures of large joints. Although the genotypic and phenotypic features of Bruck syndrome are heterogeneous, we report a baby girl having gastroschisis complicated with jejunal perforation in addition to bone fractures and joint contractures, which supported the diagnosis of Bruck syndrome. After surgical procedures for gastroschisis, the fractures were treated with splints, and cyclic pamidronate treatment was started. On postoperative day 30, the patient was discharged without any complications. She is now seven months of age, gaining weight and has had no additional fractures with the ongoing pamidronate treatment. Although prematurity and low birth weight are common in gastroschisis, musculoskeletal anomalies have not been reported until now, and thus the case is unique. Additionally, cyclic pamidronate administration is a good treatment choice for bone fragility in Bruck syndrome to reduce the number of fractures, and it may be beneficial for the subsequent clinical deterioration of the patients. [ABSTRACT FROM AUTHOR]

Cushing's disease is a condition in which hypercortisolism develops due to excessive hypophyseal adrenocorticotropic hormone production. It is rare in childhood. In this paper, we report the case of a 10-year-old male patient with hypophyseal microadenoma-related Cushing's disease who presented with obesity and was found to show poor height growth at follow-up. The diagnosis was confirmed with inferior petrosal sinus sampling, and the adenoma was successfully removed by transsphenoidal surgery. While adrenal axis suppression continued for approximately 1 year, clinical improvement was clearly observed after the third month following surgery. The findings in this patient demonstrate that decreased growth rate despite rapid weight gain in children can be early sign of Cushing's disease and emphasize the importance of monitoring of growth in obese children. [ABSTRACT FROM AUTHOR]

Objective: Hyperinsulinemic hypoglycemia (HIH) is a genetically heterogeneous disorder with both familial and sporadic variants. Patients with HIH may present during the neonatal period, infancy, or childhood and may show transient, prolonged, and persistent features. In this study, we aimed to discuss our experience with HIH patients, based on a series of 17 patients. Methods: We retrospectively analyzed the clinical and laboratory characteristics at the time of diagnosis and during treatment and evaluated the neurodevelopmental outcomes during follow-up in 17 HIH patients, who presented or were referred to the Pediatric Endocrinology Clinic of Dr. Sami Ulus Training and Research Children's Hospital between 1998 and 2011. The patients (7 male, 10 female) were aged between the first day of life and 7 years - 10 were in their first week of life, 6 in their infancy, and 1 in childhood. Results: None of the mothers had gestational diabetes. Hypoglycemic seizure (76.5%) was the most common presenting symptom. Medical treatment failed in two patients, and was stopped in eight patients. Of two diazoxide-unresponsive patients, one underwent near-total pancreatectomy, but hypoglycaemic episodes continued after surgery. The parents of other patient refused surgery, the medical treatment was continued, nevertheless, severe motor and mental retardation developed. At follow-up, 23.5% of the patients were found to have mild or moderate psychomotor retardation, and 23.5% developed epilepsy. There was no marked difference in neurological results between cases with onset in the neonatal period or in infancy. Conclusions: Clinical course and treatment response in HIH cases are very heterogeneous. Long-term careful monitoring is needed to detect and treat the complications. [ABSTRACT FROM AUTHOR]

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Objective: Training teachers and education professionals on diabetes is crucial for full-time monitoring of diabetic children in schools. The objective of this study was to assess the knowledge on diabetes in a group of school teachers in Turkey. Methods: Between November 2010 and November 2011, 1054 teachers from three regions of Ankara were given a questionnaire to assess their knowledge on diabetes. The mean age of the group (27% males, 73% females) was 38.8±8 years. 61.7% of the participants were class teachers, 23.3% were school counselors, and the rest were physical education teachers and administrators. Results: A fair percentage (47.6%) of the participants had a moderate knowledge level on diabetes and 32.4% expressed a lower level of knowledge. A large proportion (94%) gave an accurate definition of diabetes. Of the total group of 1054 teachers, 625 were aware that blood glucose level might decrease in diabetic children during follow-up. Also, 75% believed that diabetic children were eligible for physical education classes. 52.8% of these teachers had no diabetic child in their classes and teachers with a diabetic patient in their family had better knowledge of diabetes compared to their counterparts. Conclusions: Our study results indicate that school teachers have limited knowledge on diabetes. We believe that their knowledge levels can be improved by widespread training programs. [ABSTRACT FROM AUTHOR]

An abstract of the article "Investigation of CYP21A2 Gene Variants in Patients Pre-diagnosed with Congenital Adrenal Hyperplasia," by Hakan Gürkan and colleagues is presented.

An abstract of the article "A Long Follow-Up of a Juvenile Case with Adrenal Cortical and Medullary Hyperplasia," by Havva Nur Peltek Kendirci and colleagues is presented.

Bruck syndrome is an extremely rare disorder featuring the unusual combination of skeletal changes resembling osteogenesis imperfecta with congenital contractures of large joints. Although the genotypic and phenotypic features of Bruck syndrome are heterogeneous, we report a baby girl having gastroschisis complicated with jejunal perforation in addition to bone fractures and joint contractures, which supported the diagnosis of Bruck syndrome. After surgical procedures for gastroschisis, the fractures were treated with splints, and cyclic pamidronate treatment was started. On postoperative day 30, the patient was discharged without any complications. She is now seven months of age, gaining weight and has had no additional fractures with the ongoing pamidronate treatment. Although prematurity and low birth weight are common in gastroschisis, musculoskeletal anomalies have not been reported until now, and thus the case is unique. Additionally, cyclic pamidronate administration is a good treatment choice for bone fragility in Bruck syndrome to reduce the number of fractures, and it may be beneficial for the subsequent clinical deterioration of the patients.

Cushing's disease is a condition in which hypercortisolism develops due to excessive hypophyseal adrenocorticotropic hormone production. It is rare in childhood. In this paper, we report the case of a 10-year-old male patient with hypophyseal microadenoma-related Cushing's disease who presented with obesity and was found to show poor height growth at follow-up. The diagnosis was confirmed with inferior petrosal sinus sampling, and the adenoma was successfully removed by transsphenoidal surgery. While adrenal axis suppression continued for approximately 1 year, clinical improvement was clearly observed after the third month following surgery. The findings in this patient demonstrate that decreased growth rate despite rapid weight gain in children can be early sign of Cushing's disease and emphasize the importance of monitoring of growth in obese children.