Search on:
REFETOFF SYNDROME
Descriptors Found:
1
Displaying:
1 .. 1
1 / 1
DeCS
Descriptor
English
:
Thyroid Hormone Resistance Syndrome
Descriptor
Spanish
:
Síndrome de Resistencia a Hormonas Tiroideas
Descriptor
Portuguese
:
Síndrome da Resistência aos Hormônios Tireóideos
Synonyms
English
:
Refetoff Syndrome
Tree Number:
C19.874.410.500
Definition
English
:
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.
Indexing Annotation
English
:
differentiate from EUTHYROID SICK
SYNDROME
where a non-thyroid
disease
is also present
See Related
English
:
Euthyroid Sick Syndromes
History Note
English
:
95
Allowable Qualifiers
English
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
32006
Unique Identifier:
D018382
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS