hrp0095p1-477 | Fat, Metabolism and Obesity | ESPE2022

Homozygous LEPR mutation as a cause of early onset child hood obesity in a Pakistani girl

Arif Muzna , Memon Fozia , Humayun Khadija , Kirmani Salman

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...

hrp0095p1-586 | Thyroid | ESPE2022

Newborn screening for congenital hypothyroidism through dried blood spot in Low middle income country (LMIC):experience from a tertiary care center

Arif Muzna , Memon Fozia , Humayun Khadija , Kirmani Salman

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...

hrp0095p2-231 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Epidemiological characteristics, treatment and its outcomes in children presenting with Craniopharyngioma at a tertiary care center

Memon Fozia , Arif Muzna , Mushtaq Naureen , Kirmani Salman , Nuzhat Humayun Khadija

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...

hrp0097p1-477 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Newborn screening for Congenital adrenal hyperplasia in Pakistan; Pioneering the way forward

Memon Fozia , Ahmed Sibtain , Arif Muzna , Haider Maryam , Kirmani Salman , Nuzhat Humayun Khadija

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 ...