ESPE2022 Poster Category 2 Thyroid (22 abstracts)
Girl with thyroid hormone resistance: a case report
Nihad Selim 1 , Foued Abdelaziz 2 , Djamila Belamri 1 & Nadira Bouchair 1
1Saint Therese Clinic, Pediatric Department, University hospital of Annaba, Annaba, Algeria; 2Medical Practice, Annaba, Algeria
The syndrome of thyroid hormone resistance (THR), is an inherited condition that occurs in 1 of 40,000 live births characterized by a reduced responsiveness of target tissues to thyroid hormone due to mutations on the thyroid hormone receptor. We report the case of a girl who presented at 18 months of age with growth retardation persistent tachycardia and chronic diarrhea, serology testing for coeliac disease was negative. Serum levels of total and free T4 and T3 were elevated associated with inappropriately normal TSH levels. Auto-antibodies against thyroid peroxidase (TPO) and TRAC were negative. The diagnosis of THR Diagnosis was based on persistent elevations of serum free T4 and T3 levels in the absence of TSH suppression despite a treatment with antithyroid drugs. The treatment was stopped under clinical follow-up. The confirmation with genetic testing and family screening is planned. Due to their nonspecific symptomatic presentation, these patients can be misdiagnosed if the primary care physician is not familiar with the condition. The treatment decision depends on the individual characteristics of each patient.
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