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GONADAL DYSGENESIS, 46,XY
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DeCS
Descriptor
English
:
Gonadal Dysgenesis, 46,XY
Descriptor
Spanish
:
Disgenesia Gonadal 46 XY
Descriptor
Portuguese
:
Disgenesia Gonadal 46 XY
Synonyms
English
:
Swyer Syndrome
Tree Number:
C12.706.316.096.687
C12.706.316.309.388
C13.351.875.253.096.687
C13.351.875.253.309.388
C16.131.939.316.096.687
C16.131.939.316.309.388
C19.391.119.096.687
C19.391.119.309.388
Definition
English
:
Defects in the SEX
DETERMINATION
PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in
TESTOSTERONE
and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of
female
phenotypes (male to
female
sex reversal), normal to tall stature, and bilateral streak or dysgenic
gonads
which are susceptible to GONADAL TISSUE
NEOPLASMS
. An XY
gonadal dysgenesis
is associated with structural abnormalities on the
Y CHROMOSOME
, a
mutation
in the GENE, SRY, or a
mutation
in other autosomal genes that are involved in sex
determination.
History Note
English
:
91(80); was see under GONADAL DYSGENESIS 1980-90
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:
6208
Unique Identifier:
D006061
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
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