17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.

PURPOSE: 17α Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of pubertal delay and hypertension. This study aimed to determine the clinical and laboratory characteristics of 17OHD cases and gather data on disease management. METHODS: Data from 97 nationwide cases were analyzed using the CEDD-NET web system. Diagnostic, follow-up findings, and final heights of patients were evaluated. RESULTS: Mean age at admission was 13.54 ± 4.71 years, with delayed puberty as the most common complaint. Hypertension was detected in 65% at presentation; hypokalemia was present in 34%. Genetic analysis revealed Exon 1-6 homozygous deletion as the most frequent mutation, identified in 42 cases. Hydrocortisone replacement was universal; pubertal replacement was administered to 66 cases. Antihypertensive treatment was required in 57 (90%) patients. Thirty-seven cases reached final height, with an average SD of 0.015 in 46,XX and -1.43 in 46,XY. Thelarche and pubarche did not develop properly in some cases despite estradiol treatment. CONCLUSION: This study represents the largest cohort of pediatric cases of 17-hydroxylase deficiency (17OHD) documented in the literature. Hypertension and hypokalemia can serve as guiding indicators for early diagnosis.The final height is typically considered to be normal. The relationship between genotype and phenotype remains elusive. The initial genetic test for exon 1-6 deletions may be MLPA in our region.

Clinical and Laboratory Characteristics of MODY Cases, Genetic Mutation Spectrum and Phenotype-genotype Relationship

Objective: Maturity onset diabetes of the young (MODY) occurs due to mutations in genes involved in pancreatic beta cell function and insulin secretion, has heterogeneous clinical and laboratory features, and account for 1-5% of all diabetes cases. The prevalence and distribution of MODY subtypes vary between countries. The aim of this study was to evaluate the clinical and laboratory characteristics, mutation distribution, and phenotype-genotype relationship in a large case series of pediatric Turkish patients genetically diagnosed with MODY. Methods: MODY cases from 14 different pediatric endocrinology departments were included. Diagnosis, treatment, follow-up data, and results of genetic analysis were evaluated. Results: A total of 224 patients were included, of whom 101 (45%) were female, and the mean age at diagnosis was 9.4±4.1 years. Gene variant distribution was: 146 (65%) GCK; 43 (19%) HNF1A; 8 (3.6%) HNF4A, 8 (3.6%) KLF11 and 7 (3.1%) HNF1B. The remaining 12 variants were: PDX (n=1), NEUROD1 (n=3), CEL (n=1), INS (n=3), ABCC8 (n= 3) and KJNC11 (n=1). Of the cases, 197 (87.9%) were diagnosed with incidental hyperglycemia, 16 with ketosis (7%) and 7 (3%) with diabetic ketoacidosis (DKA), while 30% presented with classical symptoms of diabetes. Two-hundred (89%) had a family history of diabetes. Anti-GAD antibody was detected in 13 cases, anti-islet antibody in eight and anti-insulin antibody in four. Obesity was present in 16. Distribution of therapy was: 158 (71%) diet only; 23 (11%) intensive insulin treatment; 17 (7.6%) sulfonylureas; 10 (4.5%) metformin; and 6 (2.7%) insulin and oral anti-diabetic treatment. Conclusion: This was the largest genetically diagnosed series from Turkey. The most common gene variants were GCK and HNF1A with much lower proportions for other MODY types. Hyperglycemia was the most common presenting symptom while 11% of patients had diabetes-associated autoantibodies and 7% were obese. The majority of patients received dietary management only.

Osteogenesis Imperfecta and Split Foot Malformation due to 7q21.2q21.3 Deletion Including COL1A2, DLX5/6 Genes: Review of the Literature.

Copy number variation in loss of 7q21 is a genetic disorder characterized by split hand/foot malformation, hearing loss, developmental delay, myoclonus, dystonia, joint laxity, and psychiatric disorders. Osteogenesis imperfecta caused by whole gene deletions of COL1A2 is a very rare condition. We report a Turkish girl with ectrodactyly, joint laxity, multiple bone fractures, blue sclera, early teeth decay, mild learning disability, and depression. A copy number variant in loss of 4.8 Mb at chromosome 7 (q21.2q21.3) included the 58 genes including DLX5, DLX6, DYNC1I1, SLC25A13, SGCE, and COL1A2 . They were identified by chromosomal microarray analysis. We compared the findings in our patients with those previously reported. This case report highlights the importance of using microarray to identify the genetic etiology in patients with ectrodactyly and osteogenesis imperfecta.

The relationship between blood biochemical parameters and oral health in children with obesity/overweight.

Aim The purpose of this study was to evaluate the effects of obesity and overweight on the oral/dental health and blood biochemistry parameters in children.Methods A total of 87 children (29 boys, 58 girls) aged 1-18 presenting to our paediatric endocrinology outpatient clinic were included in the study. The patient group consisted of children with obesity/overweight and the control group consisted of children with normal weight. Paediatric patients were examined simultaneously by a paediatrician and a paediatric dentist. Oral/dental health examinations of all children included in the study were performed by a specialist paediatric dentist and dmft/DMFT (decayed, missing and filled teeth) values were calculated separately in the mixed dentition period. The Community Periodontal Index of Treatment Needs 23 index and the dental plaque 35 index were evaluated at oral/dental health examinations. Oral and dental health examination findings and blood biochemistry parameters were compared between the two groups.Results While DMFT, dental plaque index, blood c-reactive protein (CRP) and parathyroid hormone (PTH) levels were significantly increased in children with overweight/obesity compared to children with normal weight, there was no difference in terms of daily toothbrushing habits and last dental examination times. Overweight/obesity was found to be associated with the dental plaque and DMFT/dmft index, and elevation in the blood biochemistry parameters CRP and PTH among the children in this study.Conclusion The observation of significant elevation in DMFT and dental plaque indices and numbers of filled deciduous teeth showed that oral/dental health problems and dental decay may emerge more frequently in children with overweight/obesity. Children with overweight should be routinely provided with dental care as part of a multidisciplinary team that includes paediatricians and dentists.

The prevalence of vitamin D deficiency and the factors affecting vitamin D levels in children admitted to the outpatient clinic of pediatric endocrinology in Bolu Province.

BACKGROUND: The present study aimed to determine the rate of vitamin D deficiency in children who presented to the pediatric endocrinology outpatient clinic in Bolu and to investigate the factors affecting vitamin D levels. METHODS: Vitamin D levels of 1008 children and adolescents were retrospectively analyzed according to age group (0-1, 1-10, and 10-18 years), gender, season, month, obesity and other diseases, and deficiency category. Moreover, calcium, phosphorus, alkaline phosphatase, and parathyroid hormone levels were evaluated. Comparisons and correlation analyses between related groups were performed. RESULTS: The mean vitamin D level of the patients was 16.35±9.56 ng/mL and was lower in girls (14.90±9.56 ng/mL) than in boys (18.68±9.63 ng/mL, p<0.001). Overall, 18.3% of the children and adolescents had vitamin D insufficiency, 52.3% had vitamin D deficiency, and 3.5% had severe vitamin D deficiency. Vitamin D levels were lower in 10-18-year age group than in the other age groups (p<0.001), and levels were higher in summer and autumn than in winter and spring (p<0.001). Vitamin D levels of participants with obesity (14.3 ± 8.3 ng/mL) were significantly lower than normal-weight participants with no health problems (15.9 ± 8.3 ng/mL, p = 0.004). There was a negative correlation between vitamin D, alkaline phosphatase, and parathyroid hormone levels in the 1-10-year age group, but a positive correlation between vitamin D, alkaline phosphatase, and calcium levels in the 10-18-year age group. CONCLUSION: The rate of vitamin D deficiency is high among children and adolescents who presented to the endocrine outpatient clinic in Bolu. The season appears to be an important factor affecting vitamin D levels as well as the relationship between vitamin D and parathyroid hormone. Obese children and adolescents living in this region may be advised to take vitamin D supplements in winter and spring.

The Effects of Long-term Growth Hormone Treatment on Ocular Findings.

PURPOSE: This study aimed to examine the long-term changes in anterior chamber depth (ACD), central corneal thickness (CCT), axial length (AxL), peripapillary retinal nerve fibre layer thickness (RNFLT), peripapillary ganglion cell layer - inner plexiform layer (GCL-IPL) thickness, and peripapillary choroidal thickness (ChT) after rhGH replacement treatment in paediatric patients with IGHD, compared to healthy controls. METHODS: Twenty-two children with IGHD including 12 girls and 10 boys were enrolled in the study group, and 30 (16 girls, 14 boys) healthy children composed the control group. A detailed ophthalmological examination was performed for each participant. ACD, CCT, AxL, peripapillary RNFLT, GCL-IPL thickness and ChT measurements were performed before the rhGH replacement treatment and in the 12th month of the post-treatment period, as well as the corresponding visits in the control group. AxL ultrasound pachymetry (CCT), peripapillary RNFL thickness, peripapillary RNFLT, GCL-IPL thickness, and peripapillary ChT parameters were measured by spectral-domain optical coherence tomography. RESULTS: The mean age of the groups were similar (p = 0.143). 12-month CCT, ACD, and AxL measurements of the study group showed significantly higher results than the pre-treatment measurements (p = 0.005, p = 0.024, and p = 0.002, respectively). Similarly, the mean RNFLT and ChT measurements of the study group obtained from all sectors were significantly higher in the 12th-month visit (p < 0.001 for both) other than the RNFLT, and GCL-IPL thickness measurements (p > 0.05 for all). However, all these parameters were similar at pre- and post-treatment visits in the control group (p > 0.05 for all). The mean pre-treatment values of all these parameters were significantly lower in the study group compared to the control group (p < 0.05 for all), other than the RNFLT, GCL-IPL thickness measurements (p > 0.05 for all), while the mean post-treatment values of all these parameters in both groups were similar at month 12 (p > 0.05 for all). CONCLUSION: GH replacement treatment in childhood may play an important role in the development of the neural retina and can be effective on the anterior segment, RNFLT and ChT measurements.

Effects of childhood obesity on ocular pulse amplitude and intraocular pressure / Efeitos da obesidade infantil na amplitude do pulso ocular e na pressão intraocular

ABSTRACT Purpose: To assess intraocular pressure and ocular pulse amplitude changes in obese children and adolescents using dynamic contour tonometry. Methods: 137 cases, 64 obese and 73 healthy children, who were both age-matched and gender-matched, comprised the study population in this cross-sectional study. Children with body mass index values >95% for sex and age were regarded as obese. Participants underwent detailed ophthalmological examinations, including intraocular pressure measurement using a Pascal dynamic contour tonometer. Relationships between intraocular pressure and ocular pulse amplitude measurements and age, sex, obesity, pubertal status, and insulin resistance were investigated. Results: Bilateral ocular pulse amplitude was lower while intraocular pressure was higher in the obese group than in the control group (p<0.001). No significant relationship was observed between insulin resistance and intraocular pressure or ocular pulse amplitude (p>0.005). No correlation was determined between systolic and diastolic blood pressure, homeostasis model assessment for insulin resistance, or blood lipid levels and intraocular pressure and ocular pulse amplitude. Conclusion: Our results show that obesity caused an increase in intraocular pressure and a decrease in ocular pulse amplitude independently of insulin resistance in children and adolescents. Prospective studies involving long-term follow-up of cases are now needed to assess the probable adverse effects of these ocular findings in obese children.

RESUMO Objetivo: Avaliar a pressão intraocular e as alterações da amplitude do pulso ocular em crianças e adolescentes obesos, usando tonometria de contorno dinâmico. Métodos: Um total de 137 casos, sendo 64 crianças obesas e 73 crianças saudáveis, pareadas por idade e sexo, compôs a população estudada neste estudo transversal. Crianças com valores de índice de massa corporal superior ao percentil de 95% para seu sexo e idade foram consideradas obesas. Os participantes foram submetidos a exames oftalmológicos detalhados, incluindo a medição da pressão intraocular com um tonômetro de contorno dinâmico Pascal. As relações entre a pressão intraocular e as medidas da amplitude do pulso ocular com a idade, sexo, obesidade, estado puberal e resistência à insulina foram investigadas. Resultados: A amplitude do pulso ocular bilateral foi menor no grupo obeso do que no grupo controle saudável (p<0,001), enquanto a pressão intraocular foi maior (p<0,001). Não foi observada nenhuma relação significativa entre a resistência à insulina e a pressão intraocular ou a amplitude de pulso ocular (p>0,005). Não foi determinada nenhuma correlação entre a pressão arterial sistólica e diastólica, a avaliação do modelo de homeostase para resistência à insulina ou os níveis de lipídios sanguíneos e a pressão intraocular e a amplitude de pulso ocular. Conclusão: Os resultados mostraram que a obesidade causou um aumento da pressão intraocular e uma diminuição da amplitude do pulso ocular em crianças e adolescentes, independentemente da resistência à insulina. São necessários agora estudos prospectivos envolvendo o seguimento de longo prazo dos casos, para avaliar os prováveis efeitos adversos desses achados oculares observados em crianças obesas.

Effects of childhood obesity on ocular pulse amplitude and intraocular pressure.

PURPOSE: To assess intraocular pressure and ocular pulse amplitude changes in obese children and adolescents using dynamic contour tonometry. METHODS: 137 cases, 64 obese and 73 healthy children, who were both age-matched and gender-matched, comprised the study population in this cross-sectional study. Children with body mass index values >95% for sex and age were regarded as obese. Participants underwent detailed ophthalmological examinations, including intraocular pressure measurement using a Pascal dynamic contour tonometer. Relationships between intraocular pressure and ocular pulse amplitude measurements and age, sex, obesity, pubertal status, and insulin resistance were investigated. RESULTS: Bilateral ocular pulse amplitude was lower while intraocular pressure was higher in the obese group than in the control group (p<0.001). No significant relationship was observed between insulin resistance and intraocular pressure or ocular pulse amplitude (p>0.005). No correlation was determined between systolic and diastolic blood pressure, homeostasis model assessment for insulin resistance, or blood lipid levels and intraocular pressure and ocular pulse amplitude. CONCLUSION: Our results show that obesity caused an increase in intraocular pressure and a decrease in ocular pulse amplitude independently of insulin resistance in children and adolescents. Prospective studies involving long-term follow-up of cases are now needed to assess the probable adverse effects of these ocular findings in obese children.

A Novel Mutation in NIPBL Gene with the Cornelia de Lange Syndrome and a 10q11.22-q11.23 Microdeletion in the Same Individual.

The Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. CdLS is due to mutations in one of the following genes: NIPBL , SMC1A , SMC3 , RAD21 , and HDAC8 . On the other hand, 10q11.2 deletions cause a wide range of presentations in patients. Approximately 40 cases with variable deletions of 10q11.2 have been reported in literature. Some of the reported cases involve the coexistence of duplication or deletion affecting one copy of the chromosome. However, deletion of chromosome 10q11.22-q11.23 and CdLS syndrome caused by NIPBL gene mutations have not been reported previously. This report, therefore, is the first to report their coexistence together.

Changes in ocular pulse amplitude and posterior ocular structure parameters in type 1 diabetic children without diabetic retinopathy.

Background: It is important to determine changes in posterior ocular structures in the early period before retinopathy develops in pediatric patients with type 1 diabetes mellitus (DM). Objective: To evaluate inner plexiform layer (IPL), ganglion cell layer (GCL), and retinal nerve fiber layer (RNFL) thicknesses, as well as the relationship between choroidal thickness (CT) and ocular pulse amplitude (OPA) in type 1 diabetic children without diabetic retinopathy (DR). Design: A prospective observational study. Methods: Group 1 (n = 44) consisted of pediatric patients with type 1 DM without DR, and Group 2 (n = 65) of pediatric control subjects. Both intraocular pressure (IOP) and OPA were measured using a dynamic contour tonometer. CT, IPL, GCL, and RNFL were all measured using spectral domain optical coherence tomography (OCT). Results: The mean IOP and OPA values were 16.67 ± 2.34 and 1.85 ± 0.34, respectively, in group 1, and 15.14 ± 2.17 and 1.65 ± 0.25 in Group 2 (p = 0.001 for both). The mean subfoveal CT value was 294.30 ± 67.61 µm in group 1 and 394.42 ± 69.65 µm in Group 2 (p < 0.001). The mean GCL and RNFL values were 1.09 ± 0.11 and 96.46 ± 11.69, respectively, in group 1, and 1.14 ± 0.09 and 101.73 ± 9.33 in Group 2 (p = 0.005 and p = 0.008, respectively). Conclusions: IOP and OPA values were higher, and CT, GCL, and RNFL values were lower in children with type 1 DM during the early stages than in the healthy control group. These findings suggest that CT may be a marker of retinal involvement in children with type 1 DM without DR.

Study of ten causal genes in Turkish patients with clinically suspected maturity-onset diabetes of the young (MODY) using a targeted next-generation sequencing panel.

BACKGROUND: Maturity-onset diabetes of the young (MODY), which is the most common cause of monogenic diabetes, has an autosomal dominant pattern of inheritance and exhibits marked clinical and genetic heterogeneity. The aim of the current study was to investigate molecular defects in patients with clinically suspected MODY using a next-generation sequencing (NGS)-based targeted gene panel. METHODS: Candidate patients with clinical suspicion of MODY and their parents were included in the study. Molecular genetic analyses were performed on genomic DNA by using NGS. A panel of ten MODY-causal genes involving GCK, HNF1A, HNF1B, HNF4A, ABCC8, CEL, INS, KCNJ11, NEUROD1, PDX1 was designed and subsequently implemented to screen 40 patients for genetic variants. RESULTS: Ten different pathogenic or likely pathogenic variants were identified in MODY-suspected patients, with a diagnostic rate of 25%. Three variants of uncertain significance were also detected in the same screen. A novel pathogenic variant in the gene HNF1A (c.505_506delAA [p.Lys169AlafsTer18]) was described for the first time in this report. Intriguingly, we were able to detect variants associated with rare forms of MODY in our study population. CONCLUSIONS: Our results suggest that in heterogenous diseases such as MODY, NGS analysis enables accurate identification of underlying molecular defects in a timely and cost-effective manner. Although MODY accounts for 2-5% of all diabetic cases, molecular genetic diagnosis of MODY is necessary for optimal long-term treatment and prognosis as well as for effective genetic counseling.

Conjunctival Histopathological Changes in Children With Vitamin D Deficiency.

PURPOSE: The aim of this study was to investigate tear function-associated clinical findings and conjunctival histopathological changes in children with vitamin D (Vit-D) deficiency. METHODS: This study used a prospective case-control design. Group 1 (n=38) comprised pediatric patients with Vit-D deficiency, and group 2 (n=45) was the control group. Tear break-up times (TBUTs), Schirmer-1 test measurements, ocular surface disease index (OSDI) scores, and conjunctival impression cytology (CIC) results of the groups were compared. RESULTS: The participant demographic characteristics, including the mean age and the male-to-female ratio, were similar (P>0.05). The median TBUT and Schirmer-1 test measurement were 10 s (5-15) and 12 mm (6-19) in group 1 and 11 s (6-16) and 15 mm (8-21) in group 2 (P=0.004 and P=0.013, respectively). The median OSDI scores were 16 (10-20) in group 1 and 17 (10-21) in group 2 (P=0.092). According to the CIC, 25 samples in group 1 and 40 samples in group 2 were categorized as grade 0, 11 samples in group 1 and 5 samples in group 2 were categorized as grade 1, and 2 samples in group 1 and no sample in group 2 were categorized as grade 2 (P=0.027). CONCLUSION: Significant conjunctival histopathological changes occur in children with Vit-D deficiency, and these changes have effects on some tear function-associated clinical findings including the Schirmer-1 test and TBUT measurements.

Changes in the macular choroidal thickness of children who have type-1 diabetes mellitus, with and without vitamin D deficiency.

PURPOSE: To assess the peripapillary retinal nerve fiber layer (RNFL) and macular choroidal thickness (CT) of children who have Type 1 diabetes mellitus (DM), both with and without vitamin D deficiency (VDD). METHODS: The prospective, case-control study herein comprised that included 46 children with DM and VDD (Group 1), 42 children with DM and normal vitamin D levels (Group 2), and 73 healthy children (Control group). The peripapillary RNFL thickness and macular CT were measured at three different points (subfoveal, 1500 µm nasal, and 1500 µm temporal from the fovea) and compared. RESULTS: The subfoveal, 1500 µm nasal, and 1500 µm temporal CT values were determined to be lower in the patients in Group 1 and Group 2 when compared to those in the Control group (P < 0.001). The same parameters were determined to be lower in the patients in Group 1 when compared to those in Group 2, although this difference was not found to be statistically significant (P > 0.05). In all of the quadrants, the RNFL thickness was determined to be similar between the groups, with P > 0.05 for all of the groups, except for the nasal quadrant (P = 0.031). In the correlation analysis of the patients in Group 1, it was revealed that a positive correlation existed between the CT and the vitamin D levels (P < 0.05). CONCLUSION: The choroids of pediatric diabetic children were thinner when compared to those of healthy children. The alterations in these parameters were more prominent in subjects who were determined to have lower levels of vitamin D.

A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency.

AIM: 17α-hydroxylase enzyme deficiency is a rare form of congenital adrenal hyperplasia (CAH) and is caused by mutations in the CYP17A1 gene. The main clinical findings are delayed puberty and primary amenorrhea in girls, and disorders of sex development in boys. It can also cause hypertension and hypokalemia in both genders. In this study, we aimed to present the clinical, laboratory and genetic results of 13 patients from eight different families who were diagnosed with complete 17α-hydroxylase enzyme deficiency. METHODS: The age, symptoms, anthropometric measurements, blood pressure, Tanner stages, and hormonal and chromosome analysis results at the time of admission were recorded from the medical records of the patients. Whole gene next-generation sequencing of CYP17A1 gene was performed to detect mutations. Multiplex ligation dependent probe amplification (MLPA) method were used to detect deletions in the seven patients who had no point mutation were detected in the CYP17A1 gene. RESULTS: The average age of the patients at the time of admission was 14.8 (range: 12.9-16.6) years. Also at this time, all patients were in adolescence and were raised as females. The karyotypes of eight patients were 46,XY, and of five patients were 46,XX. Ten patients presented with delayed puberty and primary amenorrhea, one patient with delayed puberty and hypertension, and two patients with hypertension and/or hypokalemia. Hypertension and hypokalemia were detected in nine and seven patients, respectively. CONCLUSIONS: P450c17 enzyme deficiency should be considered in patients presenting with delayed puberty or primary amenorrhea in the adolescence period and diagnosed with hypergonadotropic hypogonadism, if hypertension and hypokalemia accompany. Early diagnosis prevents the occurrence of important health problems such as hypertension, psychological problems, and gender identity disorders, which affect the majority of these patients.

Evaluation of Retinal Structure in Pediatric Subjects With Vitamin D Deficiency.

PURPOSE: To quantitatively evaluate the retinal structural parameters of pediatric patients who were determined to be deficient in vitamin D. DESIGN: Prospective, cross-sectional study. METHODS: Retinal structural parameters, including the peripapillary retinal nerve fiber layer (RNFL), central macula, retinal layer, and choroidal thicknesses, central retinal artery equivalent (CRAE), and central retinal vein equivalent (CRVE), in pediatric subjects with vitamin D deficiency (group 1) and those without (group 2) were compared. RESULTS: Group 1 comprised 70 individuals, while group 2 comprised 80 individuals. The mean peripapillary RNFL (except for the nasal superior sector [P = .037]), central macula, and retinal layer thicknesses were also determined to be similar in both groups (P > .05 for both groups). The mean choroidal thickness was lower in the subfoveal (P = .006) and nasal 3000-µm-diameter areas (P = .004) in group 1. The mean CRAE was determined to be lower (P = .031) and the CRVE was higher in group 1 (P = .005); it was determined that there was a significant correlation between the vitamin D level and both the CRAE (r = 0.447, P < .001) and CRVE (r = -0.320, P = .013). CONCLUSION: Choroidal thinning, a decrease in the CRAE, and increase in the CRVE were structural changes that occurred in the pediatric subjects who had vitamin D deficiency. The alterations in these parameters became more prominent in pediatric subjects who were determined to have lower vitamin D levels.

Changes in ocular pulse amplitude and choroidal thickness in childhood obesity patients with and without insulin resistance.

PURPOSE: To compare choroidal thickness (CT) and ocular pulse amplitude (OPA) in childhood obesity with insulin resistance (IR) and without IR. METHODS: Seventy-three childhood obesity and 62 healthy children, who were both age-matched and gender-matched, comprised the study population in this prospective study. Obesity was determined as having a body mass index (BMI) - standard deviation (SD) score that was > 2 SD.Intraocular pressure (IOP) and OPA were measured using a dynamic contour tonometer. The CT measurements were performed using enhanced depth imaging optical coherence tomography at three locations, comprising at the fovea, at a position 500 µm nasal, and also at a position 500 µm temporal to the fovea. RESULTS: Mean BMI value was 28.72 ± 4.85 in the patients with childhood obesity and 21.47 ± 1.14 in the control group. The mean IOP and OPA values were determined 15.90 ± 2.30 and 14.10 ± 2.16 mm Hg, 1.50 ± 0.28 and 1.74 ± 0.32 mm Hg in the patients with childhood obesity and the control group, respectively (p < 0.001, p < 0.001). The mean subfoveal CT value was 350.50 ± 81.51 µm in the eyes with childhood obesity and 390.02 ± 71.50 µm in those of the control group (p = 0.003). When the patient groups with and without IR were compared, no significant difference was found between CT, OPA and IOP values (p > 0.005). CONCLUSIONS: Our results showed that both OPA and CT values were significantly decreased in childhood obesity patients. We suggest further studies to verify longitudinal changes in OPA and CT, as also the evaluation of these parameters in other populations.

Low-carb Diet in Hospitalized Late Pubertal Type 1 Diabetic Girls: A Short-Term CGM Study.

OBJECTIVE: We conducted the present study to observe potential short-term benefits or risks of low-carb diet (LCD). METHODS: This is a prospective randomized cross-over study. Type 1 diabetic girls were hospitalized in ternary groups for 7 days and each group randomly started with LCD or regular diet. Continuous glucose monitoring (CGM) was performed between 0 and 168 h. RESULTS: Twenty-eight subjects completed the study. Total energy, protein, and fat consumption were high (P < 0.001); carbohydrate consumption and rapidly acting insulin dose were low (P < 0.001 and P = 0.002, respectively) during LCD. Morning postprandial, noon postprandial, and evening preprandial capillary blood sugar levels were lower during LCD (P = 0.013, 0.018, and 0.048, respectively). CONCLUSION: LCD may have the advantage of better glycemic control despite lower insulin dose which is a favorable outcome with regard to weight control and atherosclerosis prevention. No adverse events were observed.

Molecular Diagnosis of Monogenic Diabetes and Their Clinical/Laboratory Features in Turkish Children

Objective: Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood in Turkey. Methods: Patients aged 0-18 years, who were molecularly diagnosed with monogenic diabetes, and consented to participate, were included in the study. Results: Seventy-seven (45.6%) female and 92 male cases with a mean age of 8.18±5.05 years at diagnosis were included. 52.7% of the cases were diagnosed with monogenic diabetes by random blood glucose measurement. The reason for genetic analysis in 95 (56.2%) of cases was having a family member diagnosed with diabetes under the age of 25. At the time of diagnosis, ketone was detected in urine in 16.6% of the cases. Mean hemoglobin A1c on admission, fasting blood glucose, fasting insulin, and c-peptide values were 7.3±2.1%, 184.9±128.9 mg/dL, 9.4±22.9 IU/L, 1.36±1.1 and ng/L respectively. GCK-MODY was found in 100 (59.2%), HNF1A-MODY in 31 (18.3%), and variants in ABCC8 in 6 (3.6%), KCNJ11 in 5 (3%), HNF4A in 2 (1.2%), and HNF1B in 2 (1.2%). Conclusion: Recent studies have indicated HNF1A-MODY is the most frequent of all the MODY-monogenic diabetes cases in the literature (50%), while GCK-MODY is the second most frequent (32%). In contrast to these reports, in our study, the most common form was GCK-MODY while less than 20% of cases were diagnosed with HNF1A-MODY.

Ellis-van Creveld syndrome novel pathogenic variant in the EVC2 gene a patient from Turkey.

Ellis-van Creveld syndrome 10-year-old Turkish girl and her parents were first degree cousins. A novel pathogenic variant (p.Glu1178Glyfs*82) was detected in the EVC2 gene in patient. She had no peg-shaped teeth, multiple frenula, and limb shortness.

Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome

Objective: To investigate clinical characteristics and response to growth hormone (GH) treatment in patients with Prader-Willi syndrome (PWS) in Turkey. Methods: The data of 52 PWS patients from ten centers was retrospectively analyzed. A nation-wide, web-based data system was used for data collection. Demographic, clinical, genetic, and laboratory data and follow-up information of the patients were evaluated. Results: The median age of patients at presentation was 1.5 years, and 50% were females. Genetic analysis showed microdeletion in 69.2%, uniparental disomy in 11.5%, imprinting defect in 1.9% and methylation abnormality in 17.3%. Hypotonia (55.7%), feeding difficulties (36.5%) and obesity (30.7%) were the most common complaints. Cryptorchidism and micropenis were present in 69.2% and 15.3% of males, respectively. At presentation, 25% had short stature, 44.2% were obese, 9.6% were overweight and 17.3% were underweight. Median age of obese patients was significantly higher than underweight patients. Central hypothyroidism and adrenal insufficiency were present in 30.7% and 4.7%, respectively. Hypogonadism was present in 75% at normal age of puberty. GH treatment was started in 40% at a mean age of 4.7±2.7 years. After two years of GH treatment, a significant increase in height SDS was observed. However, body mass index (BMI) standard deviation (SDS) remained unchanged. Conclusion: The most frequent complaints were hypotonia and feeding difficulty at first presentation. Obesity was the initial finding in 44.2%. GH treatment was started in less than half of the patients. While GH treatment significantly increased height SDS, BMI SDS remained unchanged, possibly due to the relatively older age at GH start.