Objective: The aim of this study was to investigate the molecular basis of maturity-onset diabetes of the young (MODY) by targeted-gene sequencing of 20 genes related to monogenic diabetes, estimate the frequency and describe the clinical characteristics of monogenic diabetes and MODY in the Trakya Region of Turkey. Methods: A panel of 20 monogenic diabetes related genes were screened in 61 cases. Illumina NextSeq550 system was used for sequencing. 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 (VUS) in the GCK, RFX6, CEL, PDX1, KCNJ11, HNF1A, G6PC2, GLIS3 and KLF11 genes were identified. There were six different pathogenic/likely pathogenic variants and six different VUS which were novel. Conclusion: This is the first study including molecular studies of twenty monogenic diabetes genes in Turkish cases in the Trakya Region. The results 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.

Neonatal severe hyperparathyroidism (NSHPT) causes severe hypercalcaemia, metabolic bone disease, and potential neurodevelopmental deficits, all of which can be life-threatening. The use of calcimimetic agents can prevent or delay technically difficult parathyroidectomy in the newborn period. We...

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.

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.

Maturity onset diabetes of the young (MODY) is characterized by noninsulin-dependent diabetes diagnosed at a young age (<25 years) with an autosomal dominant inheritence. Rare mutations in the hepatocyte nuclear factor-1-beta (HNF1B) gene produce a syndrome that resemble MODY and about half of patients diagnosed with MODY5 (HNF1B mutation) have a a whole gene deletion, called as 17q12 deletion syndrome, is a rare chromosomal anomaly and is typified by deletion of the more than 15 genes including HNF1B resulting in kidney abnormalities and renal cysts and diabetes syndrome and neurodevelepmental or neuropsychiatric disorders. A 12-year-old girl was referred to our clinic, after high blood sugar was detected in the hospital where she suffered with the complaints of poliuria and polydipsia for the last 1 month. Her serum magnessium level was low (1.5 mg/dl) (normal value 1.6-2.6) and HbA1c level was 14% (normal value 3.6-5.8) and c-peptide level was 1.54 ng/ml (normal value 0.8-4). MODY5 was suspected and followed NGS gene panel (ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEURODD1, PAX4, PDX1, RFX6, ZFP57, GLIS3, FOXP3, NEUROG3, G6PC2) analysis revealed that there was no any mutation. On follow-up period, her serum magnessium level was low (1.2 mg/dl) and her urinary magnessium excretion was high at 172.5 mg/day. HNF1B gene mutation was considered in the patient with chronic hypomagnesemia with increased basal C peptide level. Abdominal CT and MR imagings revealed that there was a 43 mm diameter cystic lesion in the head of the pancreas, and agenesis of the pancreatic neck, trunk and tail as well. Because of there is no mutation in HBF1B gene in NGS panel, microarray analysis was performed, heterozygous deletion at 17q12 including HNF1B was detected. The HNF1B mutation is difficult to diagnose and has a large phenotypic variation . In case of clinical suspicion,further genetic examination (MLPA, array CGH) may be required since deletions and duplications can not be detected even if mutations in the HNF1B gene are not detected with NGS.