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Introduction: Germline pathogenic variations of the genes encoding the components of the Ras-MAPK pathway are found to be responsible for RASopathies, a clinically and genetically heterogeneous group of diseases. In this study, we aimed to present the results of patients genetically investigated for RASopathy-related mutations in our Genetic Diagnosis Center. Methods: The results of 51 unrelated probands with RASopathy and 4 affected relatives (31 male, 24 female; mean age: 9.327 ± 8.214) were included in this study. Mutation screening was performed on DNA samples from peripheral blood of the patients either by Sanger sequencing of PTPN11 hotspot regions (10/51 probands), or by a targeted amplicon next-generation sequencing panel (41/51 probands) covering the exonic regions of BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, SHOC2, SOS1, SOS2, SPRED1, and KAT6B genes. Results: Pathogenic/likely pathogenic variations found in 22 out of 51 probands (43.13%) and their 4 affected family members were located in PTPN11, BRAF, KRAS, NF1, RAF1, SOS1, and SHOC2 genes. The c.148A>C (p.Thr50Pro) variation in the KRAS gene was a novel variant detected in a sibling in our patient cohort. We found supportive evidence for the pathogenicity of the NF1 gene c.5606G>T (p.Gly1869Val) variation which we defined in an affected boy who inherited the mutation from his affected father. Conclusion: Although PTPN11 is the most frequently mutated gene in our patient cohort, as in most previous reports, different mutation distribution among the other genes studied motivates the use of a next-generation sequencing gene panel including the possible responsible genes.

Objective The aim of this study was to investigate the molecular basis of maturity-onset diabetes of the young by targeted-gene sequencing of 20 genes related to monogenic diabetes and estimate the frequency and describe the clinical characteristics of monogenic diabetes and MODY in Trakya Region of Turkey. Methods In 61 cases, a panel of 20 monogenic diabetes related genes were screened. Illumina NextSeq550 system was used for sequencing of the genes. Pathogenicity of the variants were assessed by bioinformatics prediction software programs and segregation analyses. Results In 29 (47,5%) cases, 31 pathogenic/likely pathogenic variants in the GCK, ABCC8, KCNJ11, HNF1A, HNF4A genes and in 11 (18%) cases, 14 variants of uncertain significance in the GCK, RFX6, CEL, PDX1, KCNJ11, HNF1A, G6PC2, GLIS3 and KLF11 genes were identified. 6 different pathogenic/likely pathogenic variants and 6 different variants of uncertain significance were detected as novel. Conclusions This is the first study including molecular studies of twenty monogenic diabetes genes in Turkish cases in Trakya Region. The results of this study showed that pathogenic variants in the GCK gene are the leading cause of MODY in our population. A high frequency of novel variants (32.4%-12/37) in the current study, suggests that multiple gene analysis provides accurate genetic diagnosis in MODY.

Diabetic neuropathy in children and adolescents with Type 1 diabetes mellitus is rare and is usually subclinical and a complication of the late diabetes period. A 17-year-old boy admitted with a right foot drop of sudden onset was diagnosed with peroneal nerve palsy. He had had osmotic polyuria, polydipsia and weight loss for the past 2 months; his blood glucose was 25 mmol/L (7.8), HbA1c 15.2% (4.0-5.6) and vitamin B

Leydig cell aplasia/hypoplasia is an autosomal recessive condition. In its complete form, these patients are 46XY but are cryptorchid and phenotypically female. Most cases reported in literature presented with in adolescence with pubertal delay. We reported a case with a predefined mutation in the LHCGR gene, presenting with swelling in the inguinal region and therefore diagnosed in early childhood. We wanted to emphasize the necessity of keeping Leydig cell hypoplasia in mind in the differential diagnosis of sexual development disorders in early childhood.

INTRODUCTION: Germline pathogenic variations of the genes encoding the components of the Ras-MAPK pathway are found to be responsible for RASopathies, a clinically and genetically heterogeneous group of diseases. In this study, we aimed to present the results of patients genetically investigated for RASopathy-related mutations in our Genetic Diagnosis Center. METHODS: The results of 51 unrelated probands with RASopathy and 4 affected relatives (31 male, 24 female; mean age: 9.327 ± 8.214) were included in this study. Mutation screening was performed on DNA samples from peripheral blood of the patients either by Sanger sequencing of PTPN11 hotspot regions (10/51 probands), or by a targeted amplicon next-generation sequencing panel (41/51 probands) covering the exonic regions of BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, SHOC2, SOS1, SOS2, SPRED1, and KAT6B genes. RESULTS: Pathogenic/likely pathogenic variations found in 22 out of 51 probands (43.13%) and their 4 affected family members were located in PTPN11, BRAF, KRAS, NF1, RAF1, SOS1, and SHOC2 genes. The c.148A>C (p.Thr50Pro) variation in the KRAS gene was a novel variant detected in a sibling in our patient cohort. We found supportive evidence for the pathogenicity of the NF1 gene c.5606G>T (p.Gly1869Val) variation which we defined in an affected boy who inherited the mutation from his affected father. CONCLUSION: Although PTPN11 is the most frequently mutated gene in our patient cohort, as in most previous reports, different mutation distribution among the other genes studied motivates the use of a next-generation sequencing gene panel including the possible responsible genes.

Insulin-induced oedema is a rare complication of insulin therapy and occurs shortly after the initiation of intensive insulin therapy in patients with newly diagnosed type 1 diabetes mellitus (DM) or in patients with poorly controlled type 2 DM following the initiation of insulin therapy and also in underweight patients on large doses of insulin. It is characterized by the development of lower extremity oedema or less common generalized oedema after administration of insulin and resolves spontaneously within a few weeks. We report a case of a 9-year-old boy with newly diagnosed type 1 DM, who developed insulin oedema of lower extremities and scrotum within a few days after the initiation of insulin treatment., Вызванный введением инсулина отек относится к редким осложнениям инсулинотерапии. Он возникает вскоре после начала интенсивной терапии инсулином у пациентов с впервые диагностированным сахарным диабетом (СД) 1-го типа или у пациентов с плохо контролируемым СД 2-го типа после начала терапии инсулином, а также у пациентов с низкой массой тела при введении больших доз инсулина. Процесс характеризуется развитием отека нижних конечностей или менее распространенным отеком после введения инсулина с последующим самопроизвольным рассасыванием в течение нескольких недель. Авторы сообщают о случае развития отека нижних конечностей и мошонки у 9-летнего мальчика с впервые диагностированным СД 1-го типа через несколько дней после начала лечения инсулином., Спричинений введенням інсуліну набряк належить до рідкісних ускладнень інсулінотерапії. Він виникає невдовзі після початку інтенсивної терапії інсуліном у пацієнтів з уперше діагностованим цукровим діабетом (ЦД) 1-го типу або в пацієнтів із погано контрольованим ЦД 2-го типу після початку терапії інсуліном, а також у пацієнтів із низькою масою тіла при введеннi великих доз інсуліну. Процес характеризується розвитком набряку нижніх кінцівок або менш поширеним набряком після введення інсуліну з подальшим спонтанним розсмоктуванням протягом декількох тижнів. Автори повідомляють про випадок розвитку набряку нижніх кінцівок та мошонки в 9-річного хлопчика з уперше діагностованим ЦД 1-го типу через декілька днів після початку лікування інсуліном.

Aim Atopic dermatitis is a chronic, itchy, inflammatory skin disease that progresses with exacerbations. This study was planned to determine how atopic dermatitis affects the quality of life of patients and their families. Material and methods One hundred twenty patients with atopic dermatitis, as diagnosed using the Hanifin Rajka diagnostic criteria, and their families were included in the study. The patients were divided into two groups as active and remission. Disease severity was classified as mild, moderate, and severe according to the SCORAD index. Total IgE, peripheral eosinophil counts, and allergy skin tests were performed. Literate patients completed the Childrens' Dermatology Life Quality Index by themselves. The Infants' Dermatology Life Quality Index was completed by their families. Also, the Family Dermatological Quality of Life Index was completed by one of the parents for each patient. Results Among the 120 patients who participated in the study, 76 (63.33%) were male and 44 (36.66%) were female. The mean age was 4.36±3.52 years. The quality of life survey scores were statistically significantly lower in the remission group compared with the active group (p 0.05). At least one allergen susceptibility was detected in 65% of the patients who underwent allergy skin tests. Conclusion Quality of life was affected negatively in patients with atopic dermatitis and their families. In this study, the quality of life survey results were found to be higher in the active group and the group with a high SCORAD index compared with the remission group and the group with a low SCORAD index. Based on this finding, we can conclude that quality of life is negatively affected by high disease activity.

We report an infant with exogenous Cushing syndrome after being treated for 2 months with a potent topical corticosteroid via the mother's application of topical clobetasol for diaper rash without a prescription. We emphasize that potent topical steroids should be used with great caution, especially when used under occlusion (e.g., diaper area) and that parents should be warned about potential side effects of these medications, particularly when used in infants.

Background and aims Many diseases, especially chronic diseases, can lead to sleep disturbances. Our study aimed to evaluate sleep characteristics and the relationship between sleep disorders and diabetes-related variables in type 1 diabetes adolescents and to compare these results with a non-diabetic group of similar age and gender. Methods This cross-sectional study collected data from 40 healthy adolescents and 50 patients of the same age group with type 1 diabetes mellitus from January 2019 to June 2019. Subjects were asked to complete the Pittsburgh Uyku Kalitesi Anketi (PUKA). Patients who had nocturnal hypoglycemia in the preceding one month were excluded. Results Total scores for PUKA were not significantly different between the two groups (P = 0.197). No significant relationship was found between sleep quality, duration of diabetes, and HbA1c levels in the diabetes group (P = 0.59, P = 0.41, respectively). Poor sleep quality (PUKA score ≥5) in girls without diabetes was higher (95% confidence interval: 1.26-11.61) than in the diabetes group (P = 0.031). Conclusion In our study, the prevalence of sleep disorders in T1D patients was not higher than the non-diabetic population. However, the girls in the non-diabetic group had significant poor sleep quality. We hypothesize that this may be due to diabetes management bringing order and discipline to an adolescents life.