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Abstract Background: Congenital hypothyroidism (CH) is the most common preventable causes of mental retardation in children. Thyroid dysgenesis is the most common cause of CH accounting for approximately 85% of all cases. Early treatment and high compliance to therapy is an important prognostic factor for normal mental and physical development in children with CH. Aim of the work: The aim of this work is to allow identification of possible etiological risk factors for congenital hypothyroidism and to evaluate the compliance of the target families of patients with CH to therapy and the effect of non-compliance on the physical and mental development. Subjects and Methods: The study was descriptive cross- sectional design, which was conducted in Endocrinology and Pediatric Outpatient Clinics in Sharkia Governorate health insurance center. The study participants were 120 newborn and infant with CH and their mothers (patients group), and 120 age matched volunteers of healthy infants and children and their mothers (control group). Data were collected using multi-structured questionnaires for determining socioeconomic state, clinical picture at presentation, personal, family and obstetric history and Morisky Medication Adherence Scale (MMAS 8) to assess patient compliance. Assessment of physical growth through the anthropometric measurements, and assessment of mental development by using Vineland-II scale for infant < 2 years, and Stanford-Binet 5 Intelligence scales, for individuals aged 2 years and more. The results of investigations at diagnosis (initial TSH and T4) and during the follow up visits were reviewed. Results: About 85% of cases were permanent CH and about 15% of cases were transient CH. The most common cause of CH is thyroid dysgenesis (80.6%) followed by dyshormonogenesis (11.94%) and antithyroid drug intake (7.46%). An increased risk for CH was detected in twins, prematurity, gestational age >40Ws, delivery with CS, presence of additional birth defects. Father’s smoking, consanguinity, maternal thyroid diseases and maternal drug use during pregnancy were also found to be associated with CH. About two third of patient families were highly compliant to therapy. There was highly significant difference between different compliance grades and between patients and control groups as regard the parameters of the metal and physical development. But no significant difference was found between the highly compliant cases and control. Conclusion: About 85% of cases were permanent CH. Compliance to L thyroxin therapy in our patients and/or their family was found to be reasonable. |