Ackah Sarah A, Eugster Erica A, Nebesio Todd D, Santos Rebeca, Jennings S Gregory, Eckert George J, Karmazyn Boaz
Riley Hospital for Children, Department of Pediatrics, Pediatric Endocrinology Section, Indiana University School of Medicine, Indianapolis, Indiana.
Indiana University School of Medicine, Indianapolis, Indiana.
Endocr Pract. 2025 Sep;31(9):1089-1094. doi: 10.1016/j.eprac.2025.05.745. Epub 2025 Jun 3.
Congenital hypothyroidism (CH) can be transient or permanent. We evaluated if thyroid volume measured by ultrasound can be distinguish between the 2 forms.
Retrospective study (1/2005-12/2019) on patients with CH with eutopic thyroids. Permanent CH was defined as the inability to discontinue levothyroxine therapy after age 3, while transient CH included a successful trial off levothyroxine. Demographic and clinical characteristics were retrieved from the electronic medical records. Fisher's Exact tests and t-tests were used to compare categorial and continuous variables between children with transient and permanent CH. Receiver-operating characteristic curve analysis evaluated thyroid volume and thyroid-stimulating hormone (TSH) as individual predictors of transient/permanent CH. A classification tree analysis was used to combine thyroid volume and TSH for prediction.
Significant differences were found between the 2 groups in terms of TSH levels and thyroid volume. Thyroid volume in patients with transient CH was significantly smaller (1.0 ± 0.5 mL) compared to those with permanent CH (2.3 ± 2.6 mL). No transient CH patient had thyroid volume below 0.3 mL or above 2.5 mL. Combining TSH level at diagnosis of ≥200 mIU/L and thyroid volume ≤0.6 mL or ≥2.5 mL provided sensitivity of 78.4% and specificity of 85.7% in differentiating between transient and permanent CH.
Thyroid volume ≥2.5 mL or ≤0.36 mL was seen only in permanent CH, potentially avoiding the need for a trial off levothyroxine. Using both TSH level and thyroid volume provides increased sensitivity and specificity for differentiating between permanent and transient CH.