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conferenceseries
.com
Volume 05
Neonatal and Pediatric Medicine
ISSN: 2572-4983
World Pediatrics 2019
December 04-05, 2019
December 04-05, 2019 | Barcelona, Spain
32
nd
World Pediatrics Conference
A case series of thyroid hormone resistance
Hoi Lun Shing
and
Saadia Kamran Rao
Colchester General Hospital, UK
T
hyroid hormone resistance is a rare condition where there is an impaired sensitivity of target tissues to thyroid
hormone.This leads to a situation where both the thyroid hormone levels and the thyroid stimulating hormone (TSH)
are raised, as TSH is not suppressed as would normally be expected. Incidence of this condition is around 1 in 40,000
live births. TR-beta gene mutation is the most common cause of thyroid hormone resistance. Clinical manifestations are
dependent on the type ofmutant thyroid hormone receptor and each target tissue’s predominant thyroid hormone receptor
expression. Affected patients can present with a range of hyperthyroid or hypothyroid signs and symptoms. Majority of the
cases described so far have an autosomal dominant inheritance. In this case series, we describe two young children and
their father who have thyroid hormone resistance. They all possess a TR beta- gene defect secondary to a heterozygous
mutation. Due to the widely variable signs and symptoms and the non-typical trend of laboratory markers in thyroid
hormone resistance, it can be difficult for the clinician to diagnose if one is not familiar with it. Thus, this entity should
be taken into consideration when one encounters a patient with elevated serum FT4, unsuppressed TSH and decreased
serum T4/T3 ratio.
Neonat Pediatr Med 2019, Volume: 05