الفهرس 
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Abstract
Our study provides insight into developing education and genetic counseling guidelines for children diagnosed with CH, family counseling is a key component to enhancing the care of a patient with CH.
Also, our study aimed to identify value of neonatal thyroid screening programs, ultrasonography, and genetics study; the PAX8 mutation spectrum and prevalence among patients with CH in Egyptian population it is the 1st study was done in this population in diagnosis, treatment and prognosis of congenital hypothyroidism.
The clinical manifestations are often subtle or not present at birth so, Screening program provided by health ministry aim to detect cases by measuring TSH and FT4 in dried blood spots a achieving the goal of the program in early diagnosis and treatment avoiding neurodevelopment defects.
The etiology of CH should be clearly defined in all patients, so U/S is mandatory in diagnose, guiding treatment, doses and prognosis and should be done for all patients of CH at the first visit.
Patient and methods:
This study was conducted on fifty-six children (30 girls and 26 boys) with CH, diagnosed on the basis of neonatal screening programme done by Egyptian Ministry of Health and Population, Central Health Laboratories, Hormones and Tumor Marker Department, biochemically confirmed with low FT4 and high TSH levels and variable states of thyroid gland upon imaging, enrolled as cases along with 56 apparently healthy individuals as controls, who attended the Genetic Lab. of Genetic and Endocrinology Unit