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Descriptor English: Thyroid Hormone Resistance Syndrome
Descriptor Spanish: Síndrome de Resistencia a Hormonas Tiroideas
Descriptor síndrome de resistencia a hormonas tiroideas
Entry term(s) síndrome de Refetoff
síndrome de resistencia a la hormona tiroidea
Scope note: Síndrome hereditario de resistencia periférica a las hormonas tiroideas, es transmitido como rasgo autosómico recesivo, y se caracteriza por incremento en las concentraciones séricas de tiroxina y triiodotironina, incremento de la tasa de hormona tiroidea unida, y hormona estimulante del tiroides normal a ligeramente aumentada y su respuesta a la hormona liberadora de tirotropina. Las personas afectadas son desde eutiroideas a ligeramente hipotiroideas. La ausencia de hipermetabolismo y la presencia de un posible hipotiroidismo indican la existencia de una resistencia parcial a la acción periférica de la hormona.
Descriptor Portuguese: Síndrome da Resistência aos Hormônios Tireóideos
Descriptor French: Syndrome de résistance aux hormones thyroïdiennes
Entry term(s): Generalized Resistance to Thyroid Hormone
Generalized Thyroid Hormone Resistance
Hormone Resistance, Thyroid
Refetoff DeWind DeGroot Syndrome
Refetoff Syndrome
Refetoff-DeWind-DeGroot Syndrome
Resistance, Thyroid Hormone
Syndrome, Refetoff
Syndrome, Refetoff-DeWind-DeGroot
Thyroid Hormone Resistance
Tree number(s): C19.874.410.500
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D018382
Scope note: An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels.
Annotation: differentiate from EUTHYROID SICK SYNDROME where a non-thyroid disease is also present
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 95
History Note: 95
Related: Euthyroid Sick Syndromes MeSH
DeCS ID: 32006
Unique ID: D018382
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1995/01/01
Date of Entry: 1994/02/28
Revision Date: 2019/07/05
Thyroid Hormone Resistance Syndrome - Preferred
Concept UI M0027608
Scope note An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels.
Preferred term Thyroid Hormone Resistance Syndrome
Entry term(s) Refetoff DeWind DeGroot Syndrome
Refetoff Syndrome
Refetoff-DeWind-DeGroot Syndrome
Syndrome, Refetoff
Syndrome, Refetoff-DeWind-DeGroot
Generalized Resistance to Thyroid Hormone - Related but not broader or narrower
Concept UI M000648351
Preferred term Generalized Resistance to Thyroid Hormone
Entry term(s) Generalized Thyroid Hormone Resistance
Hormone Resistance, Thyroid
Resistance, Thyroid Hormone
Thyroid Hormone Resistance



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