[A case of congenital hypothyroidism and Turner syndrome.]
1UOS di Endocrinologia pediatrica-DAI materno-infantile, Azienda Ospedaliera Universitaria Federico II di Napoli.
Insights
Congenital hypothyroidism (CH) treated properly usually allows normal growth. This case highlights impaired growth in a CH patient, later diagnosed with Turner syndrome (TS), who responded well to growth hormone (GH) therapy.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- Congenital hypothyroidism (CH) requires timely treatment for normal development.
- Turner syndrome (TS) is a genetic condition that can impact growth and health.
- Early diagnosis and management are crucial for conditions affecting child growth.
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.
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