Abstract
Background: The incidence of congenital hypothyroidism (CH) has increased over the years, and many predictors for detecting newborns with transient forms (TCH) as early as possible have been considered. Methods: All newborns diagnosed with primary CH and eutopic gland in the Piedmont region of Italy in the period of January 2014–June 2019 were enrolled and re-evaluated at the age of 2 years. Results: 105 newborns were diagnosed with CH during the study period. Dyshormonogenesis was observed in 55/105. At re-evaluation, we found that 52.7% had permanent CH (PCH), while 47.3% had TCH. Male/female rate, TSH levels at diagnosis, levothyroxine requirement at withdrawal and extra-thyroid congenital malformations rate were higher in the PCH group (p = 0.02, p = 0.009, p = 0.02 and p = 0.01), while fT4 levels at diagnosis were lower (p = 0.03). Sensitivity of 72.4% and specificity of 80.7% for serum TSH above 60 mcUI/mL, sensitivity of 73% and specificity of 72.4% for serum fT4 level below 7.2 pg/mL and sensitivity of 66% and specificity of 68% for drug requirement above 2.25 mcg/kg/day were observed in PCH. Conclusions: Demographic, clinical and hormonal data at diagnosis and levothyroxine requirement during the first two years should be adequately monitored to identify infants who are most likely to discontinue therapy after the age of 24 months.
Highlights
Congenital hypothyroidism (CH) is the most common congenital endocrine disorder, with classically reported incidence of 1:3.000–1:4.000 births [1]
An increasing incidence has been reported, and it is influenced by many factors, e.g., the cutoff of Thyroid Stimulating Hormone (TSH) at neonatal screening on a dry blood spot (DBS), as it has been progressively lowered in almost all countries
All subjects with thyroid in situ were re-evaluated at a mean age of 2.4 years, and 29/55 (52.7%) were shown to have permanent CH (PCH), while 26/55 (47.3%) had a transient CH (TCH)
Summary
Congenital hypothyroidism (CH) is the most common congenital endocrine disorder, with classically reported incidence of 1:3.000–1:4.000 births [1]. An increasing incidence has been reported, and it is influenced by many factors, e.g., the cutoff of Thyroid Stimulating Hormone (TSH) at neonatal screening on a dry blood spot (DBS), as it has been progressively lowered in almost all countries. Another important fact is the increase in the population of newborns at risk of developing CH, such as preterm babies or twins. After reporting by the national screening center, the diagnosis of CH should be confirmed by evaluating the thyroid hormonal profile of TSH, free Thyroxine (fT4), free triiodothyronine (fT3), thyroglobulin and radiological evaluation by 99Tc or 121I scintiscan and/or ultrasound. Conclusions: Demographic, clinical and hormonal data at diagnosis and levothyroxine requirement during the first two years should be adequately monitored to identify infants who are most likely to discontinue therapy after the age of 24 months
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