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Objectives: Mixed dopamine and serotonin receptor antagonists (DSRAs) are associated with significant weight gain and its complications. Our aim was to evaluate the effectiveness of metformin in re...

Prevalence of youth-onset type 2 diabetes (T2D) has increased worldwide, paralleling the rise in pediatric obesity. Occurrence and clinical manifestations vary regionally and demographically.We assessed the incidence, and clinical and demographic manifestations of youth-onset T2D in Israel.In a national observational study, demographic, clinical, and laboratory data were collected from the medical records of children and adolescents, aged 10-18 years, diagnosed with T2D between the years 2008 and 2019.The incidence of youth-onset T2D in Israel increased significantly from 0.63/100,000 in 2008 to 3.41/100,000 in 2019. The study cohort comprised 379 individuals (228 girls [59.7%], 221 Jews [58.3%], mean age 14.7 ± 1.9 years); 73.1% had a positive family history of T2D. Mean body mass index (BMI) z-score was 1.96 ± 0.7, higher in Jews than Arabs. High systolic (≥ 130 mmHg) and diastolic blood pressure (≥ 85 mmHg) were observed in 33.7% and 7.8% of patients, respectively; mean glycosylated hemoglobin (A1c) level at diagnosis was 8.8 ± 2.5%. Dyslipidemia, with high triglyceride (150 mg/dl) and low HDL-c (40 mg/dl) levels, was found in 45.6% and 56.5%, respectively. Microalbuminuria and retinopathy were documented at diagnosis, 15.2% and 1.9%, respectively) and increased (36.7% and 4.6%, respectively) at follow-up of 2.9 ± 2.1 years. Criteria of metabolic syndrome were met by 224 (62.2%) patients, and fatty liver documented in 65%, mainly Jews. Psychosocial comorbidity was found in 31%. Treatment with metformin (45.6%), insulin (20.6%), and lifestyle modification (18%) improved glycemic control.Youth-onset T2D in Israel has increased significantly and presents a unique profile.

To examine the effectiveness and safety over a 12-month period of a telemedicine intervention in adults with type 1 diabetes (T1D) treated with insulin pumps. 74 T1D patients on insulin pumps for at least 1 year (mean 19.5 [11.5] years) and HbA1c ≥ 6.5% (≥ 48 mmol/mol) were randomized to the telemedicine (n = 37) or the standard care group (n = 37). The intervention group was instructed to download data from insulin pumps and glucometers monthly. They received immediate phone feedback and recommendations for insulin dose adjustment; and face-to-face visits once in 6 months, compared to once every 3 months for the standard care group. Satisfaction with treatment, quality of life and frequency of hypoglycemic events was evaluated. The mean changes in HbA1c adjusted to baseline were − 0.08% (0.25 mmol/mol) vs. − 0.01% (0.03 mmol/mol), in the intervention and control groups, respectively (p = 0.18) at 12 months, without an increased frequency of hypoglycemia. Patients in the intervention group felt satisfied and interested in continuing with the treatment (p = 0.04). The quality of life scores were similar in both groups. Direct total costs were 24% less in the intervention group, and indirect total costs decreased by 22% compared to the year preceding the study. Internet-based insulin dose adjustment is as effective and safe as routine care in adults with type 1 diabetes treated by insulin pumps. For suitable patients, some of the time-consuming routine visits may be replaced by user-friendly digital medicine. Clinical Trial.gov Identifier NCT01887431.

Aims Billions of people have been under lockdown in an attempt to prevent COVID-19 spread. Lifestyle changes during lockdown could lead to deterioration of glycemic control in type 1 diabetes (T1D). We aimed to assess the impact of COVID-19 lockdown on the glycemic control of pediatric patients with T1D. Methods This observational real-life study from the AWeSoMe Group assessed continuous glucose monitoring (CGM) metrics of 102 T1D patients (52.9% males, mean age 11.2 ± 3.8 years, mean diabetes duration 4.2 ± 3.8 years) who used Dexcom G5. The data were accessed without any interface between patients, caregivers, and the diabetes team. Study variables from CGM metrics were: mean glucose level, time-in-range (TIR, 70–180 mg/dL; 3.9–10 mmol/L), hypoglycemia ( 250 mg/dL; > 13.3 mmol/L), coefficient of variation (CV), and time CGM active before and during lockdown. Delta-variable = lockdown variable minus before-lockdown variable. Results The mean TIR was 60.9 ± 14.3% before lockdown, with no significant change during lockdown (delta-TIR was 0.9 ± 7.9%). TIR during lockdown was significantly correlated with TIR before lockdown (r = 0.855, P 3%) were significantly older than patients with stable or worse TIR (P = 0.028). Children aged

Background Data regarding glycemic control in children and adolescents with a dual diagnosis of type 1 diabetes mellitus (T1DM) and attention-deficit/hyperactivity disorder (ADHD) are limited. Objective To compare various aspects of diabetes control among youth with T1DM, between those with and without ADHD. Methods In this cross-sectional study of youth with T1DM, 39 had ADHD (mean age 14.1 ± 2.8 years) and 82 did not (control group, mean age 12.6 ± 3.3 years). Health-related quality of life was assessed by a Diabetes Quality of Life (DQOL) questionnaire submitted to their parents. Glycemic data were downloaded from glucometers, pumps, and continuous glucose monitoring systems. HbA1c levels, hospitalizations, and severe hypoglycemic and diabetes ketoacidosis events were retrieved from the medical files. Results Compared to the control group mean HbA1c level of the ADHD group was higher: 8.3 ± 1.1% versus 7.7 ± 1.0% (p = 0.005) and the percent of time that glucose level was in the target range (70-180 mg/dl) was lower: 48 ± 17% versus 59 ± 14% (p = 0.006). Mean glucose and glucose variability were higher in the ADHD group. Youth with ADHD who were not pharmacologically treated had worse HbA1c and more hospitalizations than those who were treated. DQOL did not differ between the control group, the treated ADHD group, and the untreated ADHD-Group. Conclusions Dual diagnosis of T1DM and ADHD during childhood leads to worse diabetes control, which is more pronounced in the context of untreated ADHD. Healthcare providers should be aware of the difficulties facing youth with T1DM and ADHD in coping with the current intensive treatment of diabetes.

Aims Children with chronic diseases were unable to receive their usual care during COVID-19 lockdown. We assessed the feasibility and impact of telehealth visits on the time-in-range (TIR) of paediatric individuals with type 1 diabetes (T1D). Methods An observational multicentre real-life study. Patients scheduled for an in-clinic visit during the lockdown were offered to participate in a telehealth visit. Sociodemographic, clinical, continuous glucose monitor and pump data were recorded 2 weeks prior and 2 weeks after telehealth visit. The primary endpoint was change in relative-TIR, i.e. change in TIR divided by the percent of possible change (∆TIR/(100-TIRbefore)*100). Results The study group comprised 195 individuals with T1D (47.7% males), mean±SD age 14.6 ± 5.3 years, and diabetes duration 6.0 ± 4.6 years. Telehealth was accomplished with 121 patients and their parents (62.0%); 74 (38.0%) did not transfer complete data. Mean TIR was significantly higher for the two-week period after the telehealth visit than for the two-week period prior the visit (62.9 ± 16.0, p < 0.001 vs. 59.0 ± 17.2); the improvement in relative-TIR was 5.7±26.1%. Initial higher mean glucose level, lower TIR, less time spent at

A 22-year old female with type 1 diabetes (T1DM) presented with generalized rash. She was diagnosed at the age of 9 years and is treated with insulin pump and CGMS (continues glucose monitoring sensors), her recent HbA1c was 7.4%. Four weeks prior to her rash presentation she started a low carbohydrate diet (50 gr of carbs per day) in order to improve her glycemic control. Pruritic erythematous papules, papulovesicular, and vesicles appeared on her axillary region, upper back and groins. Lesions were associated with severe pruritus and negatively affected her quality of life. Various therapies were initiated by dermatologist as: antifungal agent, Itraconazole, and Betamethasone Esters, without any improvement. Her serum beta-hydroxybutyrate levels were between 1.1-1.2 mmol/l. Prurigo pigmentosa, a rare pruritic inflammatory dermatosis secondary to her high ketones levels was diagnosed. Her condition resolved after she increased her carbohydrate intake to 75 gr per day. Beta-hydroxybutyrate level decreased concomitantly to 0.1-0.2 mmol/l. When carbohydrate restriction was rechallenged, she again entered ketosis, followed by recurrence of the pruritic lesions. Carbohydrate intake was increased and subsequently all lesions resolved with remaining reticular hyperpigmentation. During the last few years low carb diets have gained popularity among patients with T1DM. This case illustrates the rare side effect of high ketones body levels. Health care providers should be familiar with this side effect. Disclosure N. levran: None. K. Mazor-Aronovitch: None. S. Grenberger: None. N. Levek: None. B. Sher: None. E. Mauda: None. Z. Landau: None. E. Monsonego-Ornan: None. O. Pinhas-Hamiel: None.

Aims: Children with chronic diseases were unable to receive their usual care during COVID-19 lockdown. We assessed the feasibility and impact of telehealth visits on the time-in-range (TIR) of pediatric individuals with type 1 diabetes (T1D). Methods: An observational multicenter real-life study. Patients scheduled for an in-clinic visit during the lockdown were offered to participate in a telehealth visit. Sociodemographic, clinical, continuous glucose monitor and pump data were recorded 2 weeks prior and 2 weeks after telehealth visit. The primary endpoint was change in relative-TIR, i.e change in TIR divided by the percent of possible change (∆TIR/(100-TIRbefore)*100). Results: The study group comprised 195 individuals with T1D (47.7% males), mean±SD age 14.6±5.3 years, diabetes duration 6.0±4.6 years. Telehealth was accomplished with 121 patients and their parents (62.0%); 74 (38.0%) did not transfer complete data. Mean TIR was significantly higher for the two-week period after the telehealth visit than for the two-week period prior the visit (62.9±16.0, p Conclusions: Pediatric patients with T1D benefited from a telehealth visit during COVID-19. This modality and its benefit should be employed, and used in the future as well. However, this modality is not yet suitable for a considerable proportion of patients.

The aim of the study was to estimate the current incidence and the distribution of etiologies of primary ovarian insufficiency (POI) in a nationwide study. The prevalence of POI in young adult women has recently increased, but the data cited for adolescents are more than three decades old.Data regarding females aged21 years diagnosed with POI during the years 2000-2016 were collected from all the pediatric endocrinology units in Israel. POI was defined by at least 4 months of amenorrhea in association with menopausal levels of follicle-stimulating hormone. Iatrogenic cases were excluded.For the 130 females aged21 years included in the study, the distribution of POI etiologies was Turner syndrome/mosaicism in 56 (43%), idiopathic in 35 (27%), and other (developmental, genetic, metabolic, adrenal, and autoimmune) in 39 (30%) females. During the years 2009-2016, compared with 2000-2008, the incidence rate of new POI diagnoses per 100,000 person-years doubled (4.5 vs. 2.0; p value.0001), and incidence rates of idiopathic and other etiologies increased by 2.6 (p value = .008) and 3.0 (p value = .002), respectively. In contrast, the incidence of Turner syndrome was constant (p value = .2). In the age group of 15-21 years, the current incidence of non-Turner POI in adolescents is one per 100,000 person-years.In this nationwide study, the incidence rate of POI in youth aged21 years was one tenth of the rate that is commonly cited. A significant increase in the rate of POI in non-Turner females was observed over the last decade. Contributions of environmental and epigenetic factors should be studied.

Klotho is an aging-modulating protein expressed mainly in the kidneys, which can be cleaved and shed to act as a circulating hormone. Several lines of evidence suggest a tight interaction between klotho and the GH-IGF-I axis. We showed previously that klotho levels are decreased in pediatric patients with growth hormone deficiency (GHD). Our aim now is to investigate the effect of GH therapy on klotho levels in these patients and to elucidate the role of IGF-1 in mediating secretion of klotho.Klotho levels were measured in 29 GHD pediatric patients (males=15, aged 12.2±3.3years), treated with GH for 2.5±2.8years; nineteen patients had samples obtained both before and during treatment. The effect of IGF-I and its downstream effectors on secretion of klotho to media was studied in COS-7 cells overexpressing klotho.Klotho levels increased under GH treatment (from 1321±691pg/ml to 3380±2120pg/ml, p0.001), and were higher compared to controls (1645±778pg/ml, p0.001), resulting in supraphysiological levels. Fold-increase in klotho correlated with fold-increase in IGF-I (r=0.63, p=0.004). Studies in COS-7 cells overexpressing klotho revealed mTOR-dependent induction of klotho shedding by IGF-I.Klotho levels increased during GH treatment of pediatric GHD patients. This increase was associated with an increase in IGF-I levels. Furthermore, we showed, for the first time, a direct role of IGF-I in the regulation of klotho's shedding which depends on activation of the AKT-mTOR pathway. Our findings add further support for the close association between klotho and the GH/IGF-I axis.

Background We aimed to determine the prevalence of overweight and obesity among children, adolescents and young adults with type 1 diabetes mellitus (T1DM), and to assess the prevalence of the metabolic syndrome and its components. Methods The study cohort comprised 326 (168 women) consecutive patients aged 5 to 30 years diagnosed with T1DM and followed up in the Juvenile Diabetes Clinic, Maccabi Health Care Services. Anthropometric measurements, blood pressure, presence of additional diseases, other medications, HbA1c, triglycerides and high density lipoprotein cholesterol levels were obtained. Results The mean age in the study group was 18.5 ± 6.0 years, and the mean diabetes duration was 8.7 ± 5.0 years. Mean HbA1c level was 8.1 ± 1.3%. Nineteen per cent of the study population was overweight (85th > body mass index

Background Disordered eating behaviors (DEBs) may lead to full blown eating disorders. Both type 1 diabetes mellitus (T1DM) and celiac disease (CD) have been linked to DEBs. Objective To compare the presence of DEBs between adolescents and young adults with a dual diagnosis of T1DM and CD, and individuals with only one of the diagnoses. Methods Individuals with a dual diagnosis of T1DM and CD ("T1DM + CD group" n = 39), with a diagnosis of T1DM only ("T1DM group" n = 97) and with a diagnosis of CD only ("CD group" n = 267) filled the Eating Attitude Test-26 (EAT-26) questionnaire. Those with T1DM completed in addition to the Diabetes Eating Problem Survey-Revised (DEPS-R). Results The study population comprised of 403 individuals, of whom 65% were females. There were no statistically significant differences among the groups in distribution of sex, age, hemoglobin A1c (HbA1c) levels, age of disease diagnosis and duration. The prevalence of DEBs in the T1DM + CD group was 3-fold higher (26.0%) than in the T1DM (8.2%) and CD (8.2%) groups (P = .003). This trend was observed for both females and males. Multivariate analysis demonstrated that the T1DM + CD group had an increased risk for DEBs (odds ratio, OR: 4.7, 95% confidence interval, CI: 1.9-11.2, P = .001) after adjustment for age, sex, and body mass index. Additionally, being female, older and overweight increased the risk for DEBs. HbA1c values were not associated with an increased DEBs rate. Conclusions Individuals with the dual diagnoses of T1DM and CD have an increased likelihood to develop DEBs compared to those with only one of these diagnoses.

Bone maturation is currently assessed by subjective and automated radiography.To evaluate the concordance and reproducibility of a quantitative ultrasound (QUS) based device versus X-ray based methods.The study population comprised 150 children, 76 males, 4-17 years of age. X-ray scans were evaluated according to wrist, carpal and phalanx areas for bone age. QUS was performed by the the BAUS™ device (SonicBone, Rishon Lezion, Israel), using speed-of-sound (SOS) and distance attenuation factor (ATN) in similar areas. Data from 100 subjects were used to establish the device conversion equation, and 50 measurements were assigned to assess inter-modality agreement.BAUS showed high repeatability performance, 0.73% relative standard deviation for SOS and 3.5% for ATN. R2 for the conversion equation, including gender, SOS, and ATN, was 0.80 for all methods (P0.001). There was no significant bias in bone age assessments.Bone age assessment by SonicBone is comparable to the assessment by X-ray based methods.

Diabet. Med. 29, 1291–1296 (2012) Abstract Aims To identify clinical characteristics and co-morbidity rates of children diagnosed with Type 1 diabetes mellitus at younger than 6 years of age. Methods Data were obtained from a retrospective chart review of 103 patients diagnosed with Type 1 diabetes at younger than 6 years (study group) and 220 patients at older than 6 years (comparison group). Measures of glycaemic control and occurrence of co-morbidities (coeliac disease, autoimmune thyroid disease, hypertension, nephropathy and retinopathy) were compared. Results The mean follow-up period was more than 8 years. For the study group, mean HbA1c levels ranged from 64 mmol/mol to 66 mmol/mol (8.0–8.2%) until age 10 years, and then rose to 73 mmol/mol (8.8%). The HbA1c levels were higher in the study than in the comparison group for comparable ages (P = 0.003). After adjustment for duration of diabetes this difference was not significant. The overall rate of severe hypoglycaemic events was greater in the study group than in the comparison group (P = 0.03). Kaplan–Meier diagnosis rates of celiac disease, 10 years after Type 1 diabetes diagnosis, were 14.4% and 4.2% in the study and comparison groups, respectively (P log-rank = 0.03). There were no differences in rates of autoimmune thyroid disease, hypertension, nephropathy or retinopathy. Conclusions Children diagnosed with Type 1 diabetes before the age of 6 years were in greater risk of developing celiac disease, compared with children diagnosed after the age of 6 years. For children diagnosed with Type 1 diabetes aged under 6 years, good metabolic control was achievable until age 10 years, after which it deteriorated. Higher HbA1c levels observed in children diagnosed before the age of 6 years were associated with longer duration of disease.

The prevalence of obesity in children and adolescents has increased dramatically in the last few decades. Primary hypertension, a known secondary complication among obese adults, has been considered rare in children.To investigate the prevalence of hypertension and its relation to body mass index (BMI) in obese children aged 9-17 years in Israel.Weight, height, BMI, and systolic and diastolic blood pressure (BP) (twice) were measured in children attending general and pediatric endocrine clinics. Obesity was defined as BMIor = 95th percentile and overweight as BMIor = 85th percentile. Pre-hypertension and hypertension were defined as systolic and/or diastolic BPor = 90th percentile for age, gender and height and BPor = 95th percentile respectively. In children with pre-hypertension or hypertension, repeated measurements were performed.We evaluated 264 children of whom 152 had BMIor = 85th percentile (study group). Their mean age was 12.5 years. The prevalence of elevated BP (both pre-hypertension and hypertension) in the study group was 44.1% and 31% at the first and second measurements respectively, compared to 11.6% and 1.9% in the normal-weight group. Hypertension was documented in 17.2% of the study group at the second measurement.Elevated BP was diagnosed in 31% of overweight and obese children and adolescents. Increased awareness and early diagnosis and treatment are essential.

Objective Klotho is an aging-modulating protein expressed mainly in the kidneys and choroid plexus, which can also be shed, released into the circulation and act as a hormone. Klotho deficient mice are smaller compared to their wild-type counterparts and their somatotropes show marked atrophy and reduced number of secretory granules. Recent data also indicated an association between klotho levels and growth hormone (GH) levels in acromegaly. We aimed to study the association between klotho levels and GH deficiency (GHD) in children with growth impairment. Design Prospective study comprising 99 children and adolescents (aged 9.0±3.7 years, 49 male) undergoing GH stimulation tests for short stature (height-SDS = −2.1±0.6). Klotho serum levels were measured using an α-klotho ELISA kit. Results Klotho levels were significantly lower (p

We aimed to determine the prevalence of overweight and obesity among children, adolescents and young adults with type 1 diabetes mellitus (T1DM), and to assess the prevalence of the metabolic syndrome and its components.The study cohort comprised 326 (168 women) consecutive patients aged 5 to 30 years diagnosed with T1DM and followed up in the Juvenile Diabetes Clinic, Maccabi Health Care Services. Anthropometric measurements, blood pressure, presence of additional diseases, other medications, HbA1c , triglycerides and high density lipoprotein cholesterol levels were obtained.The mean age in the study group was 18.5 ± 6.0 years, and the mean diabetes duration was 8.7 ± 5.0 years. Mean HbA1c level was 8.1 ± 1.3%. Nineteen per cent of the study population was overweight (85th body mass index 95th percentile) and 5.2% was obese (body mass index ≥ 95th percentile). Female patients aged 15 ≤ 18 and 18 ≤ 25 years were significantly overweight compared with healthy Israeli women in the same age groups, 33.3% versus 12.7% and 26.3% versus 7.8%, respectively, p 0001. There were no obese female patients in the 15 ≤ 18 age group. Among the men in all age groups, there was no difference in the prevalence of overweight and obesity compared with healthy men in the general population. There was no difference in the age of onset, disease duration, HbA1c levels, treatment with anti-depressants and associated morbidities between the normal weight, overweight and obese groups. Obese patients had lower levels of HDL and increased prevalence of hypertension and metabolic syndrome.Overweight but not obesity was more prevalent in women with T1DM. Metabolic syndrome and its components were more prevalent among overweight and obese individuals with T1DM than among normal weight individuals.

OBJECTIVE The incidence of type 1 diabetes mellitus (T1DM) in young children has increased considerably over recent years. The purpose was to examine the effectiveness and safety of continuous subcutaneous insulin infusion (CSII) therapy in preschool children with T1DM. METHODS A retrospective chart review of 113 children diagnosed with T1DM while younger than age 6 years. Mean age at diagnosis was 3.5±1.5 years and mean duration of follow 9.7±7.0 years. Patients were divided into 3 groups. Group1 initiated CSII therapy before the age of 6 years (n=26), Group 2 was treated with multiple daily injections (MDI) throughout follow-up (n=34), and Group 3 initiated CSII after age 6 (n=53). Metabolic control was assessed by HbA1C levels and safety by rates of severe hypoglycemia and diabetic ketoacidosis (DKA) events. RESULTS In Group 1, the highest mean HbA1C value (8.5%) was observed 1-2 years prior to CSII initiation. During the 5 year period following CSII initiation, mean HbA1C levels ranged between 7.4 and 8.0%. Throughout the entire follow-up period, mean HbA1C levels were lower for Group 1 than Group 2 (p=0.05). In Group 3, mean HbA1C level decreased from 8.7% pre-CSII to 8.3% post-CSII (p

Background Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants. Its management can be extremely complicated, and may involve medical therapy and surgery. The mainstay of the treatment is to maintain normoglycemia, since hypoglycemia during infancy can have severe neurological consequences. Objective To assess the cognitive and developmental levels and the adaptive skills achieved by children with CHI who were treated medically over the past decade. Subjects and methods Fourteen children with CHI, under the age of 10 years, who received medical treatment only, underwent a physical and neurological examination and standardized assessments that included the Bayley Scale of Infant and Toddler Development, 3rd Edition, or Kaufman Assessment Battery for Children, the Vineland Adaptive Behavior Scales and the Achenbach Child Behavior Checklist (CBCL) parent questionnaire form. Results Twelve children (86%) achieved normal range scores in the cognitive and development assessments (Bayley Scale of Infant and Toddler Development or Kaufman Assessment Battery for Children). Only two showed cognitive achievements below the normal range. The Vineland questionnaire, which was based on parental report, showed below normal adaptive skills in eight patients (57%). Conclusions In contrast to previous studies showing a high prevalence of neurodevelopmental difficulties in children with congenital hyperinsulinism, our study showed normal cognitive achievements in most children. This may be attributed to the earlier recognition and better management of the disease in the past decade.

Landau Z, Mazor-Aronovitch K, Boaz M, Blaychfeld-Magnazi M, Graph-Barel C, Levek-Motola N, Pinhas-Hamiel O. The effectiveness of Internet-based blood glucose monitoring system on improving diabetes control in adolescents with type 1 diabetes. Objective: To determine whether the use of an Internet-based blood glucose monitoring system could improve glycemic control in adolescents with type 1 diabetes mellitus (T1DM). Methods: In a randomized, controlled clinical trial, a total of 70 adolescent subjects with T1DM were recruited. Subjects randomized to the intervention group (n = 36) were instructed to submit their blood glucose levels weekly by Internet to the Diabetes Care Team during a period of 6 months. Subjects randomized to the control group (n = 34) did not submit results but were under routine follow-up. Results: At baseline, patients were 15.1 ± 2.6 years of age with mean HbA1c of 8.3 ± 1.3%. At the 6-month follow-up period, no by-group differences in change from baseline to end of treatment HbA1c levels were detected. In the intervention group, 12/36 did not submit blood glucose levels and were classified as non-compliant. In a secondary exploratory analysis in which non-compliant patients were omitted, HbA1c values in the compliant intervention group declined from 8.5 ± 1.7% at baseline to 8.2 ± 1.2% at 6 months, while in the control group HbA1c values increased from 8.2 ± 1.1 to 8.4 ± 1.1%, this difference did not reach statistical significance. Conclusions: An Internet-based blood glucose monitoring system was not associated with improved glycemic control in adolescents with T1DM. Identification of a sub-group of compliant subjects who may improve metabolic control by using this tool is needed.

Purpose: Congenital hyperinsulinism of infancy (OMIM# 256450) is a devastating disease most commonly caused by dominant or recessive mutations in either ABCC8 or KCNJ11, the genes that encode for the β-cell adenosine triphosphate-regulated potassium channel. A unique combination of a paternally inherited germline mutation and somatic loss-of-heterozygosity causes the focal form of the disease (Focal-congenital hyperinsulinism of infancy [Focal-CHI]), the incidence of which in genetically susceptible individuals is not known. Methods: We genotyped 21,122 Ashkenazi Jewish individuals for two previously identified ABCC8 founder mutations and utilized a clinical database of 61 unrelated Ashkenazi patients with congenital hyperinsulinism of infancy to obtain an estimate of the risk of Focal-CHI in a genetically susceptible fetus. Results: The combined mutation carrier rate in Ashkenazi Jews was 1:52, giving an estimated frequency of homozygosity or compound heterozygosity of 1:10,816 in this population. The risk of Focal-CHI is 1:540 per pregnancy in offspring of carrier fathers. Conclusion: We recommend that these mutations be included in the genetic screening program for the Ashkenazi Jewish population. As the risk of Focal-CHI is not expected to be mutation specific, the data reported in this study are useful for counseling all families in which the father was found to carry a recessive ABCC8 or KCNJ11 mutation.

Congenital hyperinsulinism is a functional disorder of insulin secretion. In its diffuse severe form, it is traditionally treated with over 95% pancreatectomy. However, even after this procedure normoglycemia is not always achieved. Non-surgical therapy with frequent or continuous feeding, medication and close monitoring is another alternative. In this review we compare the two approaches to this condition focusing on early complications, diabetes, neurological outcome and home management issues. Early complications of pancreatectomy include mechanical, metabolic and infectious complications. Non-surgical interventions can be complicated by unwarranted effects of medications and of invasive procedures. Diabetes occurs with both approaches but much less frequently and years later with non-surgical treatment. Regarding neurodevelopmental outcome, most data come from heterogeneous groups. Nevertheless, it appears that outcome is not adversely affected by avoiding surgery. Home management is far more difficult for the non-surgical form. When the non-surgical approach is successful in achieving normoglycemia and parents are highly motivated, this mode of therapy should be considered.

Background: Congenital hyperinsulinism (CH) is treated surgically in many centers (near-total and partial pancreatectomy for diffuse and focal disease respectively). Most patients treated with near-total pancreatectomy developed diabetes during childhood/puberty. CH patients are at increased risk of neurodevelopmental disorders, some being severe, which are reported to occur in 14–44% of patients from highly heterogenous cohorts. Over the last few decades, we have treated children with CH conservatively without surgery. The aim of this study was to assess the neurodevelopmental outcome of these patients. Design and methods: The study included 21 Ashkenazi CH medically treated patients: 11 homozygotes (diffuse disease) and 9 heterozygotes with mutations on the paternal allele (presumed focal disease). The mean age was 13.7 years (range 8–23). Neurodevelopmental outcomes were assessed by telephone interviews of parents, using a standard questionnaire. Closest age siblings of CH patients served as controls. Results: Ten CH patients had perinatal seizures of short duration. Four had post-neonatal seizures, which remitted entirely. During early childhood, four patients (19%) had hypotonia, eight (38%) had fine motor problems, seven (33%) had gross motor problems (clumsiness), and one had mild cerebral palsy. Three patients (14%) had speech problems. Eight patients required developmental therapy, compared to one in the control group. Most of these problems were resolved by age 4–5 years. At school age, all were enrolled in regular education, some excelled in their studies, 6 out of 21 patients (29%) had learning problems (2 out of 21 controls). None had overt diabetes. Conclusions: Good neurodevelopmental outcome was observed in our conservatively treated CH patients, with no diabetes as reported in patients undergoing pancreatectomy.