Endocrine Abstracts

Background: The introduction of newborn screening for congenital hypothyroidism (CH) has led to prevent the most serious consequences of precocious deficit of thyroid hormone during child development, particularly neurological disability. However, little is known about long-term physical and psycho-social outcomes of CH after screening introduction.

Objective: To evaluate physical and neuropsychological development and Quality of Life (QoL) in adult subjects with primary CH early treated with levothyroxine (LT4).

Methods: We selected a patient group of 48 adult subjects with CH, who started LT4 therapy within the first months of life and continued it with an adequate control of disease, and a control group of 53 adult subjects without thyroid disorders, of homogeneous ethnicity and age compared to patients. We retrospectively collected clinical and biochemical data from infancy to adulthood, while QoL (including psychological health, social adaptation, and self-perception of health) was evaluated through a questionnaire.

Results: We didn’t find differences between patients and controls in puberal and physical development and metabolic parameters. Educational attainment was worse in CH group, particularly in the subgroup with thyroid agenesis and in subjects who started LT4 therapy later. However, this result is strongly influenced by socio-cultural and environmental factors, as demonstrated by a positive correlation with mother instruction level. The same tendency, but without significative differences, has been found in concentration ability, which is self-judged better by control subjects, and, among CH patients, by the subgroup with thyroid gland in place and in patients treated earlier. Almost half of the patients refer to frequently feel in a depressed mood, and this result correlates to the timing of treatment initiation. Most patients don’t think that disease has influenced their life, or that undergoing periodic visits is disabling. The only aspect of disease that seems to influence QoL is the necessity of a chronic medication intake; in fact, most patients fear to feel sick if they don’t take their therapy.

Conclusions: CH newborn screening is effective in minimizing long-term consequences of disease. We only found small differences from controls regarding QoL and social adaption; socio-cultural and economic environment of families strongly influence this outcome, probably due to a better adherence to therapy and a greater exposure to cognitive stimuli during childhood. In conclusion, early and adequate treatment remains fundamental. In fact, it is possible to guarantee these patients a physical, puberal, neuropsychological and social development as close as possible to their genetic potential.