Long-acting Growth Hormone Therapy, Rational and Future Aspects.

Recombinant growth hormone (GH) is administered as daily subcutaneous injections. Daily treatment can be challenging for children/adolescents as well as for parents and/or caregivers (legal representatives, guardians of children in institutional care). Challenges associated with daily treatment may result in missing several doses and non-adherence with treatment leads to inadequate growth response. As an inadequate growth response does not meet criteria for continuing treatment, payers (commercial or public) may decide to end reimbursement. Novel long-acting GH formulations (LAGH) with extended half-life can be administered less frequently and target to improve patient convenience and consequently to improve adherence and responses to treatment. LAGH formulations can restore growth velocity and body composition as effectively as daily treatment, without unexpected adverse effects as reported in randomized clinical trials.

Adherence to Growth Hormone Treatment in Children During COVID-19 Pandemic

Objective: Treatment adherence is crucial for the success of growth hormone (GH) therapy. Reported nonadherence rates in GH treatment have varied widely. Several factors may have an impact on adherence. Apart from these factors, the global impact of the COVID-19 pandemic, including problems with hospital admission and routine follow-up of patients using GH treatment, may have additionally affected the adherence rate. The primary objective of this study was to investigate adherence to treatment in patients receiving GH. In addition, potential problems with GH treatment during the pandemic were investigated. Materials and Methods: This was a multicenter survey study that was sent to pediatric endocrinologists in pandemic period (June 2021-December 2021). Patient data, diagnosis, history of pituitary surgery, current GH doses, duration of GH therapy, the person administering therapy (either parent/patient), duration of missed doses, reasons for missed doses, as well as problems associated with GH therapy, and missed dose data and the causes in the recent year (after the onset of the pandemic) were queried. Treatment adherence was categorized based on missed dose rates over the past month (0 to 5%, full adherence; 5.1 to 10% moderate adherence; >10% nonadherence). Results: The study cohort consisted of 427 cases (56.2% male) from thirteen centers. Median age of diagnosis was 8.13 (0.13-16) years. Treatment indications were isolated GH deficiency (61.4%), multiple pituitary hormone deficiency (14%), Turner syndrome (7.5%), idiopathic GH deficiency (7.5%), small for gestational age (2.8%), and "others" (6.8%). GH therapy was administered by parents in 70% and by patients in 30%. Mean daily dose was 32.3 mcg/kg, the annual growth rate was 1.15 SDS (min -2.74, max 9.3). Overall GH adherence rate was good in 70.3%, moderate in 14.7%, and poor in 15% of the patients. The reasons for nonadherence were mainly due to forgetfulness, being tired, inability to access medication, and/or pen problems. It was noteworthy that there was a negative effect on adherence during the COVID-19 pandemic reported by 22% of patients and the main reasons given were problems obtaining an appointment, taking the medication, and anxiety about going to hospital. There was no difference between genders in the adherence rate. Nonadherence to GH treatment decreased significantly when the patient: administered the treatment; was older; had longer duration of treatment; and during the pandemic. There was a non-significant decrease in annual growth rate as nonadherence rate increased. Conclusion: During the COVID-19 pandemic, the poor adherence rate was 15%, and duration of GH therapy and older age were important factors. There was a negative effect on adherence during the pandemic period.

Revised one-bag IV fluid protocol for pediatric DKA: a feasible approach and retrospective comparative study.

BACKGROUND: This study compared the effectiveness of the traditional and revised one-bag protocols for pediatric diabetic ketoacidosis (DKA) management. METHODS: This single-center retrospective cohort study included children diagnosed with DKA upon admission between 2012 and 2019. Our institution reevaluated and streamlined the traditional one-bag protocol (revised one-bag protocol). The revised one-bag protocol rehydrated all pediatric DKA patients with dextrose (5 g/100 ml) containing 0.45% NaCl at a rate of 3500 ml/m2 per 24 h after the first 1 h bolus of normal saline, regardless of age or degree of dehydration. This study examined acidosis recovery times and the frequency of healthcare provider interventions to maintain stable blood glucose levels. RESULTS: The revised one-bag protocol demonstrated a significantly shorter time to acidosis recovery than the traditional protocol (12.67 and 18.20 h, respectively; p < 0.001). The revised protocol group required fewer interventions for blood glucose control, with an average of 0.25 dextrose concentration change orders per patient, compared to 1.42 in the traditional protocol group (p < 0.001). Insulin rate adjustments were fewer in the revised protocol group, averaging 0.52 changes per patient, vs. 2.32 changes in the traditional protocol group (p < 0.001). CONCLUSION: The revised one-bag protocol for pediatric DKA is both practical and effective. This modified DKA management achieved acidosis recovery more quickly and reduced blood glucose fluctuations compared with the traditional one-bag protocol. Future studies, including randomized controlled trials, should assess the safety and effectiveness of the revised protocol in a broad range of pediatric patients with DKA.

Clinical features, diagnosis and treatment outcomes of Cushing's disease in children: A multicenter study.

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.

Does intramedullary elastic nail augmentation increase resistance to bending stress in plate fixation of long bones? A biomechanical study on lamb cadaveric femurs.

OBJECTIVES: The aim of this study was to evaluate the bending strength of plate-screw fixation augmented with titanium elastic nails (TENs) in a simple long bone fracture model using lamb cadaver femurs. MATERIALS AND METHODS: A total of 24 lamb cadaveric femurs that were osteotomized transversely from the mid-diaphysis with a bone saw were used to obtain a simple fracture model. The femurs were divided randomly into three groups. In Group 1, only plate-screw was used for fixation. In Group 2, plate-screw fixation was augmented with a 2.5-mm TEN. In Group 3, plate-screw fixation was augmented with two 2.5-mm TENs. Each bone model was positioned on a mechanical testing machine. Subsequently, three-point bending loads were applied to each bone to measure the force required for failure at the osteotomy site. The data were recorded on a computer connected to the test device and the bending strengths of all samples were calculated. RESULTS: There was no statistically significant difference in the bending strength (megapascals) between Groups 1 and 2 or between Groups 2 and 3 (p>0.05). However, the bending strength in Group 3 was significantly higher than in Group 1 (p<0.05). CONCLUSION: The application of intramedullary TEN during surgery in long bone fractures, combined with a bridge plate, may be helpful to strengthen the fixation stability.

An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience

Objective: 22q11.2 deletion syndrome (22q11.2 DS) is the most common chromosomal microdeletion disorder. Associated problems in 22q11.2 DS may include cardiac abnormalities, immune dysfunction, facial dysmorphism, with endocrine, genitourinary and gastrointestinal problems, and developmental delay. The aim of this study was to evaluate and present all endocrinological findings of patients with 22q11.2 DS from a single center. Methods: All participants had confirmed 22q11.2 DS by fluorescence in situ hybridization with hypoparathyroidism. Data were retrieved by retrospective review of patient records. Results: A total of 17 patients were reviewed. On physical examination, all patients had similar dysmorphic features. The median age at diagnosis was 45 days (1 day-13 years). Most cases (64.7%, 11/17) were diagnosed with hypoparathyroidism incidentally after routine tests. At the time of diagnosis, mean calcium was 7.04±0.80 mg/dL, phosphorus was 6.2±1.1 mg/dL, and median parathyroid hormone (PTH) was 11.5 (3.7-47.6) ng/L. Transient hypoparathyroidism was detected in five cases (29.4%). There was no significant difference between patients with permanent or transient hypoparathyroidism regarding gender, age at diagnosis, calcium, phosphorus, and PTH levels. However, vitamin D levels were significantly lower in the transient group (p=0.036). During follow-up, short stature, obesity, and type 2 diabetes mellitus were absent. Thyroid autoantibodies were detected in two patients with normal thyroid function tests. Despite there being no pathological short stature, final stature was shorter than the general population (mean height standard deviation score: -0.94±0.83). Conclusion: Hypocalcemia may be detected during acute illness in some cases where hypocalcemia appears at later ages. There was no significant difference between permanent and transient hypoparathyroidism cases in terms of PTH level. Recognition of the more specific facial findings is important to trigger investigation of genetic variants, additional anomalies, and for follow-up.

Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.

AIM: To describe the Turkish generalized lipodystrophy (GL) cohort with the frequency of each complication and the death rate during the period of the follow-up. METHODS: This study reports on 72 patients with GL (47 families) registered at different centres in Turkey that cover all regions of the country. The mean ± SD follow-up was 86 ± 78 months. RESULTS: The Kaplan-Meier estimate of the median time to diagnosis of diabetes and/or prediabetes was 16 years. Hyperglycaemia was not controlled in 37 of 45 patients (82.2%) with diabetes. Hypertriglyceridaemia developed in 65 patients (90.3%). The Kaplan-Meier estimate of the median time to diagnosis of hypertriglyceridaemia was 14 years. Hypertriglyceridaemia was severe (≥ 500 mg/dl) in 38 patients (52.8%). Seven (9.7%) patients suffered from pancreatitis. The Kaplan-Meier estimate of the median time to diagnosis of hepatic steatosis was 15 years. Liver disease progressed to cirrhosis in nine patients (12.5%). Liver disease was more severe in congenital lipodystrophy type 2 (CGL2). Proteinuric chronic kidney disease (CKD) developed in 32 patients (44.4%) and cardiac disease in 23 patients (31.9%). Kaplan-Meier estimates of the median time to diagnosis of CKD and cardiac disease were 25 and 45 years, respectively. Females appeared to have a more severe metabolic disease, with an earlier onset of metabolic abnormalities. Ten patients died during the follow-up period. Causes of death were end-stage renal disease, sepsis (because of recurrent intestinal perforations, coronavirus disease, diabetic foot infection and following coronary artery bypass graft surgery), myocardial infarction, heart failure because of dilated cardiomyopathy, stroke, liver complications and angiosarcoma. CONCLUSIONS: Standard treatment approaches have only a limited impact and do not prevent the development of severe metabolic abnormalities and early onset of organ complications in GL.

Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2

Kenny-Caffey syndrome (KCS) is a rare autosomal recessive (AR)/dominant disease characterized by hypoparathyroidism, skeletal dysplasia, dwarfism, and dysmorphism. FAM111A or TBCE gene mutations are responsible for this syndrome. Osteocraniostenosis (OCS) is a lethal syndrome with similar features to KCS, and it can be a severe form of KCS type 2 which results from the FAM111A gene mutation. The FAM111A mutation is generally characterized by the autosomal dominant transition. We present a male case having compound heterozygous variants (c.976T>A and c.1714_1716del) in the FAM111A gene with an AR inheritance pattern. Hypocalcemia developed on the second day of life. The patient and his older sister had a dysmorphic face, skeletal dysplasia, and they were diagnosed with hypoparathyroidism. Both siblings died due to septicemia. He is the first reported patient with the FAM111A mutation in Turkey. The phenotype of the patient is compatible with OCS, and the detected variants may explain the disease genetically.

Maltodextrin May Be a Promising Treatment Modality After Near-total Pancreatectomy in Infants Younger Than Six Months with Persistent Hyperinsulinism: A Case Report

Persistent hypoglycemia in infants with congenital hyperinsulinism (CHI) can be challenging in approximately half of these cases, even after undergoing a near-total pancreatectomy. While maltodextrin has been recommended in the nutritional management of CHI cases younger than six months, information regarding its efficacy in managing hypoglycemia are not yet clear. Here, we present a male infant with CHI who experienced persistent hypoglycemia even after undergoing a near-total pancreatectomy and despite multiple medical treatments. The infant's hypoglycemic episodes were successfully controlled by adding maltodextrin to his diet.

Normal or elevated prolactin is a good indicator to show pituitary stalk interruption syndrome in patients with multiple pituitary hormone deficiency.

OBJECTIVES: To determine the importance of serum prolactin (PRL) in the detection of pituitary stalk interruption syndrome (PSIS) in children with multiple pituitary hormone deficiency (MPHD). We hypothesized that PRL elevation might be a diagnostic indicator of pituitary stalk pathologies. METHODS: Clinical, radiological, and laboratory features of the 50 cases of MPHD were studied. RESULTS: The median age at presentation of the 50 cases (52%, n=26 were female) was 6.61 (0.02-18.9) years. PSIS was detected in 60% (n=30), pituitary hypoplasia in 32% (n=16), partial empty sella in 6% (n=3), and only 2% (n=1) was reported as normal. Out of 50 patients, 21.3% (n=10) were hypoprolactinemic, 44.7% (n=19) were normoprolactinemic, and 34% (n=16) were hyperprolactinemic. The median PRL value was 27.85 (4.21-130) ng/mL in patients with PSIS and 5.57 (0-41.8) ng/mL in patients without PSIS. Additional hormone deficiencies, especially ACTH and LH were detected in follow-up. CONCLUSIONS: Patients with normal or high prolactin levels deserve special attention regarding the possibility of PSIS. Furthermore, we emphasize the importance of regular follow-up and monitoring for multiple pituitary hormone deficiencies in all patients with a single pituitary hormone deficiency.

The attitudes, experiences, and self-competencies of pediatric endocrinology fellows and attending physicians regarding diabetes technology: the Turkey experience.

BACKGROUND: Unlike in Western countries, the use of diabetes technologies has been limited in Turkey, or at least until the last few years. This low adoption frequency may be attributed to the lack of experience of pediatric diabetes teams in working with new technologies. The aim of this study is to evaluate the attitudes, experiences and self-efficacies of pediatric endocrinology fellows and attending physicians in terms of use of continuous subcutaneous insulin infusion (CSII) therapy and continuous glucose monitoring (CGM) systems. METHODS: The questionnaire used in this study consisted of 63 questions including 10 questions evaluating the demographic characteristics and experience of the participants, 33 Likert-type questions related to self-competency, 17 yes/no questions and 3 open-ended questions which evaluated attitudes towards our study area. This questionnaire was e-mailed to pediatric endocrinology fellows and attending physicians working in Turkey. RESULTS: A total of 24 fellows and 28 attending physicians working in the field of pediatric endocrinology participated in the survey. Of the respondents, 61% reported that there was no formal training curriculum regarding diabetes technology at their institutions. The mean scores obtained from the Likert scale questions measuring self-competency in using CSII and CGM were 3.8 and 3.3 out of 5, respectively. Of the respondents, 55% judged themselves to be under-skilled in interpreting pump reports while 39% of the respondents reported themselves as being under-skilled in interpreting CGM reports. CONCLUSIONS: While it is true that training programs for using diabetes technology have been established by the National Pediatric Endocrinology Association in Turkey, the development of a specific curriculum for institutions that provide pediatric endocrinology fellowship training in this framework will increase the self-confidence of pediatric endocrinologists in this matter and this will ultimately contribute to the improvement of the metabolic control of children with diabetes.

Telemedicine experiences at a pediatric endocrinology clinic during the COVID-19 pandemic.

BACKGROUND: The coronavirus 19 (COVID-19) pandemic has affected all aspects of life, including the routine follow-up of patients with chronic illnesses. In this study, we aim to share our experience of telemedicine in our pediatric endocrinology clinic during the pandemic. METHODS: We were able to continue caring for children with endocrine disorders using various communication methods such as e-mail and e-message. RESULTS: A total of 267 patients received telemedicine care over the course of 608 contacts. The number of hospital visits and physical contact was effectively reduced to help protect against the COVID-19 infection. The patients were supported in terms of receiving their prescriptions and patient education also continued. No complications were observed. CONCLUSION: The advantages and disadvantages of telemedicine were discussed and consequently, we propose that telemedicine can be utilized to maintain and continue the care of children with endocrine disorders during and even after the pandemic. Further studies are needed to standardize this method for general use.

Prevalence of obesity in prepubertal and pubertal with Turkish population type 1 diabetes.

To determine the prevalence of prepubertal and pubertal obesity in children and adolescents with type 1 Diabetes Mellitus (Type 1 DM). One hundred fifty children and adolescents aged 6-18 years with Type 1 DM who attended the Pediatric Endocrinology Polyclinic and were diagnosed with type 1 DM were included in the study. Tanner staging was used to estimate pubertal status. Age- and gender-specific body mass index (BMI) percentile between 85 and 95% was accepted as overweight and > 95% as obese. It was determined that the overweight prevalence rates in children and adolescents with type 1 DM were 13.3% and the obesity rate was 14.3%. It was found that while the overweight prevalence rates (14.1%) were higher in males, the obesity prevalence was higher in females (19.0%). The obesity prevalence rates at the prepubertal and pubertal stages were found to be 17.1% and 13.8%, respectively. The obesity prevalence at the pubertal stage was higher in girls (22.4%) than boys (3.9%) (p < 0.05). The rates both of overweight and obesity in boys decreased from prepubertal to pubertal periods, while those rates increased in girls. Our results indicated that the obesity prevalence in prepubertal and pubertal children and adolescents with type 1 DM was higher compared to healthy peers in the literature. The authors believe that the risk factors for obesity in this population should be determined and obesity-prevention programs for diabetes should be prepared.

How did restrictions mandated by the COVID-19 pandemic affect the performance of orthopedic trauma surgery in a Level-1 tertiary trauma hospital?

BACKGROUND: This present study was designed to evaluate the effect of restrictions on fracture admission to a Level-1 tertiary trauma hospital between COVID-19 pandemic and pre-pandemic restriction time intervals that included groups of younger than <20-years-old, 20-65-years-old, and older than aged >65-years-old. METHODS: Patients who were hospitalized and treated for orthopedic treatment between 10 March and 1 June during the pandemic period were retrospectively analyzed. Control group consisted of patients admitted to the hospital in the same time interval in 2019. The patients were divided into three groups, under 20 years of age, between 20 and 65 years of age, and over 65 years of age. The patients' data included age, gender, trauma mechanism, fracture type, and any COVID-19 radiological or clinical symptoms. RESULTS: The number of patients >65-years-old admitted to the orthopedic trauma center was high at pandemic intervals compared to pre-pandemic time. When the groups were compared for patients of 20-65-years-old; there was a significant difference for the fracture type (p<0.05). Lower extremity fractures were high at pre-pandemic group, whereas multiple traumas were high at pandemic group. For sub-group 20-65 ages, low-energy traumas were higher at pre-pandemic group, whereas high-energy traumas were more frequent at the pandemic group. CONCLUSION: We observed a decrease in fracture admission to orthopedic trauma centers during COVID-19 pandemic for subgroups of <20-years-old and 20-65-years-old ages, whereas there was a significant increase for >65-years-old age, most of them related to the osteoporotic hip fractures. So that older age group should be encouraged to mobilize at home and have permission to walk and make physical activity to avoid osteoporosis for a limited time daily.

Psychomotor Delay in a Child with FGFR3 G380R Pathogenic Mutation Causing Achondroplasia.

Achondroplasia (ACH) is a hereditary disorder of dwarfism that is caused by the aberrant proliferation and differentiation of chondrocyte growth plates. The common findings of macrocephaly and facial anomalies accompany dwarfism in these patients. Fibroblast growth factor receptor 3 ( FGFR3 ) gene mutations are common causes of achondroplasia. The current study presents a case of 2-year-old male child patient presenting with phenotypic characteristics of ACH. The interesting finding of the case is the presence of psychomotor delay that is not very common in these patients. Clinical exome sequencing analyzing 4.813 disease causing genes revealed a de novo c.1138G > A mutation within the FGFR3 gene. In conclusion, the mutation confirms the clinical diagnosis of ACH, and it seems to be causing the psychomotor delay in this patient.

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.

Evaluation of choroidal thickness in children with type 1 diabetes: the role of optical coherence tomography in diabetic retinopathy screening.

The present study aimed to evaluate choroidal changes and alternations within the structure of the retina prior to visible morphologic signs of diabetic retinopathy (DR) in pediatric type 1 diabetes (T1D) cases. Two hundred and six eyes of 103 pediatric patients with T1D without DR and 88 eyes of 44 healthy controls were enrolled. They underwent a comprehensive ophthalmic examination and optical coherence tomography evaluation. Choroidal thickness (ChT) measurements were performed manually on macular and peripapillary regions. There was no significant difference between the two groups in terms of age, intraocular pressure, and axial length (p > 0.05). ChT measurements of subfoveal, nasal, and temporal macula were slightly thinner in the diabetic group, and no statistical significance was found (p = 0.835, p = 0.305, and p = 0.054, respectively). Peripapillary ChT of eight sectors were also thinner in T1D; however, superonasal, nasal, inferonasal, and inferior sector values were significantly different (p = 0.010, p = 0.020, p = 0.019, and p = 0.018, respectively). In conclusion; this study demonstrated evidence of peripapillary choroidal thinning in pediatric diabetic patients without visible signs of retinopathy.

Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey

Objective: Neonatal diabetes mellitus (NDM) may be transient or permanent, and the majority is caused by genetic mutations. Early diagnosis is essential to select the patients who will respond to oral treatment. In this investigation, we aimed to present the phenotype and genotype of our patients with NDM and share our experience in a single tertiary center Methods: A total of 16 NDM patients from 12 unrelated families are included in the study. The clinical presentation, age at diagnosis, perinatal and family history, consanguinity, gender, hemoglobin A1c, C-peptide, insulin, insulin autoantibodies, genetic mutations, and response to treatment are retrospectively evaluated. Results: The median age at diagnosis of diabetes was five months (4 days-18 months) although six patients with a confirmed genetic diagnosis were diagnosed >6 months. Three patients had KCNJ11 mutations, six had ABCC8 mutations, three had EIF2AK3 mutations, and one had a de novo INS mutation. All the permanent NDM patients with KCNJ11 and ABCC8 mutations were started on sulfonylurea treatment resulting in a significant increase in C-peptide level, better glycemic control, and discontinuation of insulin. Conclusion: Although NDM is defined as diabetes diagnosed during the first six months of life, and a diagnosis of type 1 diabetes is more common between the ages of 6 and 24 months, in rare cases NDM may present as late as 12 or even 24 months of age. Molecular diagnosis in NDM is important for planning treatment and predicting prognosis. Therefore, genetic testing is essential in these patients.

Magnetic resonance spectroscopy to assess hepatic steatosis in patients with lipodystrophy.

BACKGROUND/AIMS: Lipodystrophy is a rare metabolic disorder characterized by near total or partial lack of subcutaneous adipose tissue and associated with insulin resistance. We aimed to evaluate the efficacy of magnetic resonance spectroscopy imaging (MRS) to explore the fat content of the liver in patients with lipodystrophy and to determine the relationship between the liver fat accumulation and clinical presentations of lipodystrophy. MATERIALS AND METHODS: Between July 2014 and February 2016, 34 patients with lipodystrophy were assessed by MRS for quantification of hepatic steatosis. All patients had metabolic abnormalities associated with insulin resistance. Metabolic parameters and the MRS findings were analyzed to identify potential correlations between the liver fat content and disease severity. RESULTS: The MRS fat ratios (MRS-FR) were markedly higher, indicating severe hepatic steatosis in lipodystrophy. Patients with generalized and partial lipodystrophy had comparable levels of MRS-FRs, although patients with generalized lipodystrophy were significantly younger. Patients with genetically based lipodystrophy had elevated MRS-FR compared to those with acquired lipodystrophy (p=0.042). The MRS-FR was positively correlated with liver enzyme alanine aminotransferase (p=0.028) and serum adiponectin (p=0.043). CONCLUSION: Our data suggest that MRS might be an effective, noninvasive imaging method to quantify hepatic fat content in patients with lipodystrophy. Further studies are needed to validate the technique and threshold values which would allow accurate comparison of data acquired by different machines and centers.