ESPE Abstracts

Background: Monogenic nonsyndromic obesity is severe, has early-onset with abnormal eating behaviour and endocrine disorders. Leptin(LEP), Leptin receptor (LEPR), and Melanocortin 4 receptor (MC4R) gene mutations are identidied as the cause of early-onset childhood obesity. These pathogenic mutations are rare and have been described in less than 50 obese individuals worldwide, from consanguinous families.A cohort of Pakistani obese children from consanguineous...

Background: Neonatal screening is a preventive strategy for various endocrine, metabolic and genetic conditions. Congenital hypothyroidism (CH) is one of the most common preventable and treatable causes of intellectual disability, and delayed diagnosis can lead to disastrous consequences. Incidence of CH is1:3000-1:4000 neonates worldwide but data varies globally. Pakistan lacks a national newborn screening programme for any inherited disease, but Aga Khan Uni...

Background: Fahr's syndrome is a rare neurological disorder, characterized by symmetric calcifications in basal ganglia, cerebellum, and cerebral cortex, secondary to genetic, infectious, and autoimmune etiologies which can lead to movement and gait disorders, cerebellar and speech abnormalities, and cognitive impairment. Fahr's disease is defined as primary familial idiopathic calcification, while Fahr's syndrome is caused by secondary factors ...

Introduction: Craniopharyngiomas are benign midline intracranial tumors commonly seen in pediatric population. They constitute approximately 10% of primary brain tumors in children which can cause considerable morbidity and mortality due to local aggressiveness of tumor itself or its treatment effecting hypothalamo-pituitary axis, visual defects, and effects of raised intracranial pressure The aim of this study is to report the characteristics of epidemiologic...

Objective: This study aims to evaluate the effectiveness and efficiency of weight-based threshold levels for 17-hydroxyprogesterone (17-OHP) in screening newborns for 21 hydroxylases deficiency-congenital adrenal hyperplasia (CAH)Design: In April 2021 CAH screening was incorporated into the ongoing newborn screening program at aga khan university Hospital Karachi Pakistan,17OHp was assayed through Spectro fluorometry of ...

Background: In children, untreated Congenital Hypothyroidism (CH), can result in permanent neurological defects and growth abnormalities. This can be prevented by early detection and treatment of CH. Newborn screening for CH is considered one of the best tools for the prevention of these long-term complications. In our setting, we use heel-stick dried blood sample TSH (DBS-TSH) as a screening tool to detect CH. The DBS-TSH cut-off level is critical to ensuring...

Background: Congenital Hypothyroidism stands as the most common congenital endocrine disorder in childhood and a leading preventable cause of mental retardation. Despite its prevalence, global newborn detection rates remain suboptimal. The main hurdle in implementing newborn screening in Pakistan is lack of healthcare infrastructure coupled with lack of prevalence data and economic crises. The Aga Khan University Hospital spearheaded congenital hypothyroidism ...