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Published on: February 9, 2024
Diagnostic Re-Evaluation and Potential Predictor Factors of Transient and Permanent Congenital Hypothyroidism in
Gerdi Tuli1,2, Jessica Munarin1,2, Luisa De Sanctis1,2
1Department of Pediatric Endocrinology, Regina Margherita Children's Hospital, City of Health and Science University Hospital of Turin, 10126 Turin, Italy.
Insights
Transient congenital hypothyroidism (TCH) can be identified by monitoring key indicators. This study found that certain demographic, clinical, and hormonal factors at diagnosis help predict which newborns may discontinue therapy.
Area of Science:
- Pediatric Endocrinology
- Neonatal Screening
- Thyroid Disorders
Background:
- Congenital hypothyroidism (CH) incidence is rising, necessitating early detection of transient forms (TCH).
- Identifying predictors for TCH aids in timely therapeutic adjustments for affected newborns.
Purpose of the Study:
- To evaluate predictors for distinguishing between permanent CH (PCH) and TCH.
- To assess the long-term outcomes of CH diagnosis in newborns.
Main Methods:
- Newborns diagnosed with primary CH in Piedmont, Italy (2014-2019) were re-evaluated at age 2.
- Data collected included demographic, clinical, and hormonal levels at diagnosis and levothyroxine requirements.
Main Results:
- Of 105 CH cases, 52.7% had PCH and 47.3% had TCH.
- PCH was associated with higher male/female ratio, TSH, levothyroxine needs, and malformations, and lower fT4 levels at diagnosis.
- Predictive values for TCH/PCH were established using TSH, fT4, and levothyroxine dosage thresholds.
Conclusions:
- Monitoring demographic, clinical, and hormonal data is crucial.
- Levothyroxine requirement during the first two years helps identify infants likely to discontinue therapy post-24 months.
- Early identification of TCH facilitates appropriate management and reduces unnecessary long-term treatment.
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.
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