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 ...

hrp0097p1-398 | Thyroid | ESPE2023

Positive predictive value of dried blood sampling of TSH in diagnosing congenital hypothyroidism in neonates born at a tertiary care hospital.

Ahmed Khan Wasif , Naz Fizzah , Arif Muzna , Nisar Imran , Nuzhat Humayun Khadija

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...

hrp0098p2-286 | Thyroid | ESPE2024

Five-Year Experience of Diagnosing and Managing Congenital Hypothyroidism through Dried Blood Spot Newborn Screening in Pakistan: A Comprehensive Clinical Profile and Outcome Analysis

Rehman Bushra , Arif Muzna , Memon Fozia , Majid Hafsa , Kirmani Salman , Nuzhat Humayun Khadija

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 ...