Objective: To analyse chromosomal abnormalities of the patients who were referred for the screening of short stature and delayed puberty and to verify the association between karyotype and phenotype in confirmed Turner Syndrome (TS) patients.

Objective: To determine the clinical presentation of Addison's disease in order to increase the awareness of presentation in Pakistani children.

Objectives To review the data of infants and children with suspected monogenic diabetes who underwent genetic testing. Methods Monogenic diabetes is a rare form of diabetes resulting from mutations in a single gene. It can be caused by dominant as well as recessive modes of inheritance. In a country like Pakistan where interfamily marriages are common the incidence of genetic disorders is increased. As Pakistan a resource-poor country, the diagnosis of insulin-dependent diabetes is often delayed and a genetic diagnosis of monogenic diabetes is extremely difficult. Children with clinical diagnosis of monogenic and syndromic diabates were recruited and blood samples were sent for genetic analysis. Results One thousand sixty four new cases diagnosed with type 1 diabetes were registered at the National Institute of Child Health, Karachi, in the last 10 years. Of these 39 patients were selected for genetic testing who were diagnosed with diabetes/had a sibling diagnosed with diabetes before the age of nine months (n = 27) or had extra pancreatic features ( n= 12). We identified mutations in 18/27 cases diagnosed with diabetes before nine months of age. The most common genetic subtype was WolcottRallison syndrome caused by EIF2AK3 mutations (seven cases). KCNJ11 mutations were identified in two cases, ABCC8mutations were identified in four cases from three families, GCK and INS mutations were each identified in two cases, and one SLC2A2 mutation was identified in one case. A genetic diagnosis was made in 12/12 children from six families with diabetes diagnosed after the age of nine months who had extrapancreatic features. Six patients had genetically confirmed Wolfram syndrome (WFS1), three had thiamine-responsive megaloblastic anemia (SLC19A2) and three were diagnosed with histocytosis lymphadenopathy plus syndrome (SLC29A3). Conclusions Genetic testing is essential to confirm a diagnosis of monogenic diabetes which guides clinical management and future counselling. Our study highlights the importance of diagnosing monogenic diabetes in the largely consanguineously-married population of Pakistan.

Objective: To determine prevalence, causative organisms and sensitivity patterns of urinary1tract infections in febrile children. Study Design: Cross Sectional study. Setting: National Institute of Child Health, Karachi. Period: Jan 2019 to July 2019. Material & Methods: Patients from 3.0 to 14.0 years of age of either sex with complain of fever of >37.5 C for less than 2.0 weeks were included. Patients who have life threatening conditions, chronically ill, received antibiotics within 48 hours or had structural abnormalities of urinary tract like posterior ureteral valves and children with renal failure were excluded from study. Urinary sample was collected following aseptic measures of febrile children ad was sent to lab for culture and sensitivity within one hour of its collection. Sensitivity pattern was measured in lab via disc diffusion method. Data was analyzed using SPSS version 22. Results: The mean age was 8.6±3.3 years out of which 115 (65.7%) were male and 60 (34.3%) were females, mean duration of illness was 8.7±3.1 days. The frequency of culture positive UTI in febrile children was 21 (12%) cases. The common pathogen isolated from the urine culture was E. coli found in 10 cases followed by Klebsiella oxytoca. Overall 70% of E. coli are sensitive to. gentamicin and amikacin, 50% were sensitive to third generation cephalosporin, 60% of Klebsiella are sensitive to third generation cephalosporin, 60% resistant to gentamicin and amikacin and 80% were resistant to ampicillin. Conclusion: It was concluded from this study that the frequency of culture positive urinary tract infections in febrile children was 12% and common pathogen was E.coli followed by klebsilla oxytoca.

Introduction: Diabetes is associated with a high risk of cardiovascular disease (CVD). Hypertriglyceridemia & low HDL-C values are the most common symptoms of diabetic dyslipidemia. Elevated LDL-C is a well-known CVD risk factor. Objective: To determine the association of dyslipidemia and type 1 diabetes mellitus among children up to 16 years of age. Material & Method Study design: Case-control study Settings: Outpatient department, National Institute of Child Health (NICH) Duration: Six months from 26th February 2018 to 28th August 2018 Data Collection procedure: All patients age 9 to16 years of either gender were included. Cases were defined as presence of fasting plasma glucose of > to 126.0 mg/dL (7.0 mmol/L) for more than one year whereas all patients with fasting plasma glucose of less than 126 mg/dL (7.0 mmol/L) were P a g e | 2 defined as controls. The blood sample was collected in a sterile manner after an overnight fasting of 8 hours and was sent to hospital laboratory and verified by pathologist. Results: Out of total 60 patients, the mean age of the patients was 11.23 ±1.76 years. Dyslipidemia was found to be significantly higher (n=26, 86.7%) among diabetic patients as compared to non-diabetic patients (n=18, 60%). (p-value 0.020) Moreover, the risk of dyslipidemia was 4.33 times higher among diabetic patients than that of non-diabetics (OR 4.33). Patients having >10 years of age and diabetes were 8.01 times more likely (OR 8.01, p-value 0.042) and diabetic males were 8.40 times more likely (OR 8.40, p-value 0.008) to have dyslipidemia. Conclusion: Highly significant association of dyslipidemia and type 1 diabetes mellitus was found among children up to 16 years of age. Keywords: Dyslipidemia, diabetes mellitus, children