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Thyroid hormone metabolism, abnormal, 2(THMA2)

MedGen UID:: 1812066
•Concept ID:: C5676976
•: Finding

Synonym:	THMA2

Gene (location): Gene(s) directly associated with this condition or phenotype.	DIO1 (1p32.3)

Monarch Initiative:	MONDO:0030839
OMIM®:	619855

Definition

Abnormal thyroid hormone metabolism-2 (THMA2) is characterized by elevated serum reverse triiodothyronine (rT3) levels and rT3/T3 ratios. Some patients exhibit resistance to thyroid-stimulating hormone (TSH; see 188540) with mildly elevated TSH levels, and elevated cholesterol levels have been observed (Franca et al., 2021). For a discussion of genetic heterogeneity of abnormal thyroid hormone metabolism, see THMA1 (609698). [from OMIM]

Clinical features

From HPO

Hypercholesterolemia

MedGen UID:: 5687
•Concept ID:: C0020443
•: Disease or Syndrome

An increased concentration of cholesterol in the blood.

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Goiter

MedGen UID:: 42270
•Concept ID:: C0018021
•: Disease or Syndrome

An enlargement of the thyroid gland.

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Euthyroid hyperthyroxinemia

MedGen UID:: 867191
•Concept ID:: C4021549
•: Disease or Syndrome

Increased levels of thyroxine without evidence of clinical thyroid disease.

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Elevated circulating reverse T3 concentration

MedGen UID:: 1815050
•Concept ID:: C5706144
•: Finding

Abnormally increased concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation.

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Elevated circulating rT3/T3 ratio

MedGen UID:: 1815051
•Concept ID:: C5706145
•: Finding

An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation.

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Abnormality of metabolism/homeostasis
- Hypercholesterolemia
Abnormality of the endocrine system

Recent clinical studies

Etiology

Effects of thyroid dysfunction on the severity of coronary artery lesions and its prognosis.

Bai MF, Gao CY, Yang CK, Wang XP, Liu J, Qi DT, Zhang Y, Hao PY, Li MW
J Cardiol 2014 Dec;64(6):496-500. Epub 2014 Jun 17 doi: 10.1016/j.jjcc.2014.03.009. PMID: 24951271

See all (1)

Prognosis

Effects of thyroid dysfunction on the severity of coronary artery lesions and its prognosis.

Bai MF, Gao CY, Yang CK, Wang XP, Liu J, Qi DT, Zhang Y, Hao PY, Li MW
J Cardiol 2014 Dec;64(6):496-500. Epub 2014 Jun 17 doi: 10.1016/j.jjcc.2014.03.009. PMID: 24951271

See all (1)

Clinical prediction guides

Effects of thyroid dysfunction on the severity of coronary artery lesions and its prognosis.

Bai MF, Gao CY, Yang CK, Wang XP, Liu J, Qi DT, Zhang Y, Hao PY, Li MW
J Cardiol 2014 Dec;64(6):496-500. Epub 2014 Jun 17 doi: 10.1016/j.jjcc.2014.03.009. PMID: 24951271

See all (1)

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Thyroid hormone metabolism, abnormal, 2(THMA2)

Definition

Clinical features

Recent clinical studies

Etiology

Prognosis

Clinical prediction guides

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