Introduction Obesity is a worldwide concern. It is associated with morbidity such as dyslipidemia and liver disease. Childhood obesity has dramatically increased, particularly in the Gulf region. We aim to assess the prevalence of dyslipidemia and fatty liver disease (FLD) in overweight and obese children and analyze the association between different anthropometric measures with dyslipidemia and fatty liver disease. Methods A descriptive, cross-sectional study conducted on children referred with obesity. BMI percentiles were plotted and standardized waist circumference (WC) was generated. Family history of metabolic syndrome was recorded. Fasting lipid, liver transaminases, and ultrasound scans (US) for those with elevated enzymes were performed. Descriptive statistics were used for quantitative parameters. Results 216 participants were recruited. Mean ± SD age was 10.58 ± 2.996 years. 55.3% had dyslipidemia; 11.7% had high cholesterol, 28.6% high triglyceride, 32.7% high LDL, and 18.0% low HDL. 51 (84%) had either elevated transaminases. All had liver US, and 43 had FLD. WC was strongly associated with dyslipidemia and FLD (P=0.04  and  0.003). Conclusion Dyslipidemia is common in overweight, obese children. FLD is prevalent in those with elevated liver transaminases. WC is an easy tool that can be utilized to screen for dyslipidemia and FLD in overweight and obese children.

Neonatal diabetes mellitus (NDM) can be transient (TNDM) or permanent (PNDM). Data on NDM from the Gulf region are limited to few studies on PNDM.The objective of this study was to describe the genetic and clinical spectrum of NDM and estimate its incidence in AbuDhabi, capital of the United Arab Emirate (UAE). Patients were identified from the pediatric diabetes clinics and sequencing of known NDM genes was conducted in all families. Twenty-five patients were identified. Incidence during 1985-2013 was 1:29,241 Live births. Twenty-three out of twenty-five had PNDM (incidence 1:31,900) and 2/25 had TNDM (incidence 1:350,903). Eleven out of twenty-five had extra-pancreatic features and three had pancreatic aplasia. The genetic cause was detected in 21/25 (84%). Of the PNDM patients, nine had recessive EIF2AK3 mutations, six had homozygous INS mutations, two with deletion of the PTF1A enhancer, one was heterozygous for KCNJ11 mutation, one harboured a novel ABCC8 variant, and 4/21 without mutations in all known PNDM genes. One TNDM patient had a 6q24 methylation defect and another was homozygous for the INS c-331C>G mutation. This mutation also caused permanent diabetes with variable age of onset from birth to 18 years. The parents of a child with Wolcott-Rallison syndrome had a healthy girl following pre-implantation genetic diagnosis. The child with KCNJ11 mutation was successfully switched from insulin to oral sulphonylurea. The incidence of PNDM in Abu Dhabi is among the highest in the world and its spectrum is different from Europe and USA. In our cohort, genetic testing has significant implications for the clinical management.

Purpose Glucose monitoring [GM] is a mainstay of diabetes control and management. Improving glycemic control is essential to prevent microvascular complications. However, adherence to GM can be a challenge in children and adolescents. Detecting hypoglycemia is essential for its prevention and treatment. We aim to study the impact of the flash ambulatory glucose monitoring in detecting hypoglycemia and enhancing adherence in children and adolescents with type 1 diabetes. Methods The study is prospective involving 3 hospital visits. Children and adolescents with diabetes were enrolled in the study which involved a period on conventional glucose self-monitoring [glucometers] followed by a similar period of monitoring using the flash glucose monitoring device (FreeStyle Libre). Frequency of GM, duration and frequency of hypoglycemia were compared on conventional and the flash monitoring. Results 75 subjects were studied. Age mean (range) was 11.9 years (2-19). Significant difference was seen in hypoglycemia detection between both testing devices. 68 (94%) and 65 (90%) patients detected nocturnal and diurnal hypoglycemia respectively on Flash monitoring compared to 12 (16.6%) and 30 (41%) on glucometer testing (p < 0.00). Mean (range) duration of hypoglycemia was 95 min (15-330). Statistically-significant difference was found between the frequency of GM on glucometer testing compared with Flash monitoring (2.87 and 11.6/day) (p < 0.001). Conclusions Flash monitoring is a useful tool to improve adherence to GM and detecting hypoglycemia [diurnal and nocturnal] in children and adolescents with type 1 diabetes.

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Deficiency of steroid 5-alpha reductase-2 (5ARD2) is an inborn error of metabolism causing a disorder of sexual differentiation. It is caused by a mutation in the SRD5A2 gene in which various mutation types have been reported. Affected individuals have a broad spectrum of presentation ranging from normal female-appearing genitalia, cliteromegaly, microphallus, hypospadias, to completely male-appearing genitalia. We report an extended Emirati family with 11 affected members. The family displayed various phenotypes on presentation leading to different sex of rearing. Some family members were reassigned gender at various stages of life. The index case was born with severe undervirilization with bilaterally palpable gonads and was raised as male from birth. He had a 46,XY karyotype and a high testosterone/dihydrotestosterone ratio. Genetic investigation revealed a novel homozygous deletion of exon 2 of the SRD5A2 gene. Both parents were found to be carriers for the gene deletion. The patient had masculinizing surgery and a course of topical dihydrotestosterone. No beneficial effect of the hormone application was noted over 3 months and the treatment was discontinued. The findings on this kindred indicate that deletion of exon 2 in the SRD5A2 gene causes various degrees of genital ambiguity leading to different sex of rearing in affected family members. Gender reassignment may be done at various ages even in conservative communities like the Gulf region.

Introduction. Diabetic Ketoacidosis (DKA) is a serious complication that can be life-threatening. Management of DKA needs admission in a specialized center and imposes major constraints on hospital resources. Aim. We plan to study the impact of adapting a diabetes-educator care model on reducing the frequency of hospital admission of children and adolescents presenting with DKA. Method. We have proposed a model of care led by diabetes educators for children and adolescents with diabetes. The team consisted of highly trained nurses. The model effectiveness is measured by comparing the rate of hospital admission for DKA over 4-year period to the baseline year prior to implementing the model. Results. There were 158 admissions for DKA over a 5-year period. Number of patients followed up in the outpatient diabetes clinics increased from 37 to 331 patients at the start and the end of the study years. Admission rate showed a downward trend over the five-year period. Percentage of admission for DKA is reduced from 210% to 1.8% (P 0.001). Conclusion. Diabetes educator care model is an effective and a sustainable measure to reduce hospital admission for DKA in children and adolescents.

SummaryCombined17α-hydroxylase/17,20-lyase deficiency is a rare cause of congenital adrenal hyperplasia and hypogonadism. Hypertension and hypokalemia are essential presenting features. We report an Arab family with four affected XX siblings. The eldest presented with abdominal pain and was diagnosed with a retroperitoneal malignant mixed germ cell tumour. She was hypertensive and hypogonadal. One sibling presented with headache due to hypertension while the other two siblings were diagnosed with hypertension on a routine school check. A homozygous R96Q missense mutation in P450c17 was detected in the index case who had primary amenorrhea and lack of secondary sexual characters at 17 years. The middle two siblings were identical twins and had no secondary sexual characters at the age of 14. All siblings had hypokalemia, very low level of adrenal androgens, high ACTH and high levels of aldosterone substrates. Treatment was commenced with steroid replacement and puberty induction with estradiol. The index case had surgical tumor resection and chemotherapy. All siblings required antihypertensive treatment and the oldest remained on two antihypertensive medications 12 years after diagnosis. Her breast development remained poor despite adequate hormonal replacement. Combined 17α-hydroxylase/17,20-lyase deficiency is a rare condition but might be underdiagnosed. It should be considered in young patients presenting with hypertension, particularly if there is a family history of consanguinity and with more than one affected sibling. Antihypertensive medication might continue to be required despite adequate steroid replacement. Breast development may remain poor in mutations causing complete form of the disease.Learning pointsEndocrine hypertension due to rarer forms of CAH should be considered in children and adolescents, particularly if more than one sibling is affected and in the presence of consanguinity.17α-hydroxylase/17,20-lyase deficiency is a rare form of CAH but might be underdiagnosed.Blood pressure measurement should be carried out in all females presenting with hypogonadism.Anti-hypertensive medications might be required despite adequate steroid replacement.Initial presenting features might vary within affected members of the same family.Adverse breast development might be seen in the complete enzyme deficiency forms of the disease.

Celiac disease was the least prevalent autoimmune disease in patients with DS patients, while type 1 DM and hypothyroidism were both significantly associated with DS.