CONGENITAL EUTHYROID GOITRE AND PARTIAL PERIPHERAL RESISTANCE TO THYROID HORMONES

BACKGROUND: Peripheral resistance to thyroid hormones is a type of unresponsiveness of the peripheral cells or tissues to FT3 and/or FT4. Generalised resistance to thyroid hormones affects the pituitary gland and most of the peripheral tissues. Selective pituitary resistance or central resistance to thyroid hormones include unresponsiveness of the pituitary gland, but the peripheral tissues are responsive. Selective peripheral resistance involves peripheral tissue or cellular resistance to thyroid hormones, but the pituitary gland is responsive.CASE PRESENTATION: We present a rare case of a female patient with partial peripheral resistance to thyroid hormones due to a point mutation coding for the beta subunit of the integrin molecule α(V)β(3) and concomitant Hashimoto`s thyroiditis. Clinically, the patient`s symptoms were in favour of hypothyroidism, and the laboratory results were in favour of the secondary hyperthyroid state. PCR protein amplification detected a point mutation coding for the membrane receptor, which mediates a signal via the MAPK pathway when bonded with thyroid hormones.CONCLUSION: Peripheral resistance to thyroid hormones is a very rare condition and can often be misdiagnosed due to the broad spectrum of clinically similar differential diagnostic entities. Molecular analysis is required to confirm the exact underlying cause for the impaired peripheral sensitivity to thyroid hormones syndrome.

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FAMILIAL PARTIAL PERIPHERAL RESISTANCE TO THYROID HORMONES

Acta Endocrinologica ◽

10.1530/acta.0.0870303 ◽

1978 ◽

Vol 87 (2) ◽

pp. 303-312 ◽

Cited By ~ 29

Author(s):

B.-A. Lamberg ◽

S. Rosengård ◽

K. Liewendahl ◽

P. Saarinen ◽

D. C. Evered

Keyword(s):

Thyroid Hormones ◽

Binding Capacity ◽

Elevated Serum ◽

Peripheral Resistance ◽

Serum Concentrations ◽

Resistance To Thyroid Hormones ◽

The Family ◽

Tsh Secretion ◽

Circulating Antibodies

ABSTRACT A male aged 21 was found to have elevated serum PBI on several occasions. Further studies revealed clinical euthyroidism with raised serum concentrations of T4, T3 and free T4 with normal hormone binding capacity of the thyroxine binding proteins and normal thyroid-pituitary relationships. The response to TRH was high normal or on one occasion exaggerated. The extrathyroidal thyroxine pool and the daily turnover of thyroxine were considerably above the upper limit of the normal. The subject had no goitre. These findings indicated partial peripheral resistance to thyroid hormones including the pituitary gland. There were no circulating antibodies to thyroglobulin, thyroid microsomes, T4 or T3. A study of the propositus' family revealed an autosomal dominant heredity of this abnormality. Similar findings were found in the brother, mother and the two uncles of the propositus. In these subjects the serum concentrations of T4, T3 and free T4 as well as that of rT3 were raised above the normal. The subjects studied were clinically euthyroid. Goitre was present only in the older members of the family. The response to TRH was usually high normal or at times exaggerated and the basal TSH level seemed to fluctuate during years of follow-up indicating a continuous adjustment of the thyroid function by means of TSH secretion. The mother and the older uncle had previously been treated because of hyperthyroidism. Only the mother had circulating thyroid antibodies and none of the family members had antibodies against T4 or T3. This hereditary condition seems to have a very mild clinical manifestation in this family.

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Peripheral Resistance to Thyroid Hormones

Mayo Clinic Proceedings ◽

10.1016/s0025-6196(12)60543-6 ◽

1985 ◽

Vol 60 (5) ◽

pp. 351

Author(s):

Matthew H. Connors ◽

Sobha Kollipara

Keyword(s):

Thyroid Hormones ◽

Peripheral Resistance ◽

Resistance To Thyroid Hormones

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Coexistence of syndrome of resistance to thyroid hormones and differentiated thyroid cancer

Endocrinología Diabetes y Nutrición (English ed ) ◽

10.1016/j.endien.2018.10.001 ◽

2018 ◽

Vol 65 (8) ◽

pp. 474-476

Author(s):

María Guadalupe Guijarro de Armas ◽

Carmen Pérez Blanco ◽

Pablo Carrasco Lara ◽

María Merino Viveros ◽

Isabel Pavón de Paz

Keyword(s):

Thyroid Cancer ◽

Thyroid Hormones ◽

Differentiated Thyroid Cancer ◽

Resistance To Thyroid Hormones

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Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene

Medicina ◽

10.3390/medicina56120699 ◽

2020 ◽

Vol 56 (12) ◽

pp. 699

Author(s):

Maja Pajek ◽

Magdalena Avbelj Stefanija ◽

Katarina Trebusak Podkrajsek ◽

Jasna Suput Omladic ◽

Mojca Zerjav Tansek ◽

...

Keyword(s):

Thyroid Hormone ◽

Thyroid Hormones ◽

Hormone Receptor ◽

Thyroid Hormone Receptor ◽

Pathogenic Mutation ◽

Laboratory Findings ◽

Cholesterol Levels ◽

Resistance To Thyroid Hormones ◽

Hormonal Resistance ◽

Disease Variant

Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by a reduced response of target tissues to thyroid hormones. In 85% of cases, a pathogenic mutation in the thyroid hormone receptor beta (THRB) gene is found. The clinical picture of RTHβ is very diverse; the most common findings are goiter and tachycardia, but the patients might be clinically euthyroid. The laboratory findings are almost pathognomonic with elevated free thyroxin (fT4) levels and high or normal thyrotropin (TSH) levels; free triiodothyronin (fT3) levels may also be elevated. We present three siblings with THRB mutation (heterozygous disease-variant c.727C>T, p.Arg243Trp); two of them also had hypercholesterolemia, while all three had several other clinical characteristics of RTHβ. This is the first description of the known Slovenian cases with RTHβ due to the pathogenic mutation in the THRB gene. Hypercholesterolemia might be etiologically related with RTHβ, since the severity of hormonal resistance varies among different tissues and hypercholesterolemia in patients with THRB variants might indicate the relatively hypothyroid state of the liver. We suggest that cholesterol levels are measured in all RTHβ patients.

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