Congenital Hypothyroidism Diagnosed At 9 Years Old View PDF

^*Abdulmoein Eid Al-Agha
Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

^*Corresponding Author:

Abdulmoein Eid Al-Agha
Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
Email:aagha@kau.edu.sa

Published on: 2014-07-04

Abstract

Congenital hypothyroidism is a common endocrine disorder of newborn. It is an important cause of global developmental delay. The early diagnosis and treatment is crucial. In this paper we are describing case of congenital hypothyroidism in Saudi Arabia presenting as 9–year-old Bormann boy who was born at home with no neonatal screening and family ignorance. He was discovered incidentally with chest infection, despite of that screening for congenital hypothyroidism has been available in since 1989. This case shows the importance of conducting newborn screening for early detection of congenital hypothyroidism in newborn, which is still being neglected in some developing countries. It also shows the importance of early starting adequate replacement therapy to prevent irreversible sequels.

Keywords

Congenital; Hypothyroidism; Developmental Delay Introduction Congenital

Introduction

Congenital hypothyroidism is one of the important preventable causes of global developmental delay. Prevalence of newborn cases diagnosed worldwide is 1:3500 to 1:5000. In Saudi Arabia, the incidence is 1:2500, which is considered one of the highest where majority of cases are sporadic. Newborn screening for congenital hypothyroidism has become routine since 1989 in Saudi Arabia.