1. [A case of congenital hypothyroidism and Turner syndrome.]
- Author
-
Di Mase R
- Subjects
- Female, Humans, Thyrotropin therapeutic use, Child, Congenital Hypothyroidism diagnosis, Congenital Hypothyroidism drug therapy, Turner Syndrome complications, Turner Syndrome diagnosis, Turner Syndrome drug therapy
- Abstract
When properly treated, congenital hypothyroidism (CH) allows normal growth. We describe the case of a girl followed-up for CH diagnosed upon newborn screening, with good adherence to L-T4 therapy, who had an impaired linear growth starting from 4 years of age. Diagnostic work-up allowed exclusion of inflammatory diseases and/or malabsorption and led to the diagnosis of Turner syndrome (TS). Recombinant GH (rGH) therapy was undertaken with satisfactory growth recovery. At the age of 8, a condition of autoimmune thyroiditis was detected, due to an increased risk in the context of her syndrome. Except for small adjustments in the dose of L-T4, hypothyroidism remained well-controlled even after starting rGH therapy.
- Published
- 2023
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