The Role of Initial Clinical and Laboratory Findings in Infants with Hyperthyrotropinemia to Predict Transient or Permanent Hypothyroidism

Objective: Studies on the clinical course of children with hyperthyrotropinemia are scarce. We aimed to evaluate the role of presentation findings in such infants to predict eventual outcome.

Methods: Files of infants diagnosed as suspicious congenital hypothyroidism (CH) in the neonatal or early infancy period in the past ten years were analyzed retrospectively, and 37 patients (M/F: 20/17) with hyperthyrotropinemia diagnosed at a median age of 3.2 months were included in the study. Criteria for inclusion were: normal free thyroxine (fT4) levels and thyrotropin (TSH) levels between 10-20 μIU/mL during the initial neonatal screening (or TSH<10μIU/mL afterwards). Cases with permanent CH (Group 1) were compared to those with transient hyperthyrotropinemia (Group 2) regarding age at the time of diagnosis, sex, gestational age, birth weight, symptoms, ultrasonographic and scintigraphic findings, initial thyroid function tests, and state of mental and motor development.

Results: Of the total group, 20 patients (54%) were eventually diagnosed as permanent CH. T4 doses that maintained normal thyroid function tests were significantly higher at the end of the first and second years of life in this group. Age, TSH and fT4 levels at the time of diagnosis, sex, gestational age, birth weight, symptoms, ultrasonographic and scintigraphic findings, and the state of mental and motor development were similar in the two groups.

Conclusions: T4 dose required to maintain a euthyroid state was the only parameter which distinguished between transient and permanent CH.