Search
Descriptor English: Gonadal Dysgenesis, 46,XX
Descriptor Spanish: Disgenesia Gonadal 46 XX
Descriptor disgenesia gonadal 46XX
Scope note: La disgenesia gonadal 46XX puede ser esporádica o familiar. La disgenesia gonadal XX se transmite con carácter autosómico recesivo y su locus fue cartografiado en el cromosoma 2. Se detectó una mutación en el gen para el receptor FSH (RECEPTORES FSH). La disgenesia gonadal XX esporádica es heterogénea y se ha asociado con la trisomía 13 y la trisomía 18. Estas hembras fenotípicas se caracterizan por presentar una estatura normal, infantilismo sexual, gónadas en estrías bilaterales, amenorrea, y concentraciones plasmáticas elevadas de HORMONA LUTEINIZANTE y de FSH.
Descriptor Portuguese: Disgenesia Gonadal 46 XX
Descriptor French: Dysgénésie gonadique 46, XX
Entry term(s): Gonadal Dysgenesis, 46, XX
Gonadal Dysgenesis, XX Type
Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46,XX
Tree number(s): C12.050.351.875.253.064.249
C12.050.351.875.253.309.193
C12.200.706.316.064.249
C12.200.706.316.309.193
C12.800.316.064.249
C12.800.316.309.193
C16.131.939.316.064.249
C16.131.939.316.309.193
C19.391.119.064.249
C19.391.119.309.193
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D023961
Scope note: The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.
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
Previous Indexing: Gonadal Dysgenesis (1980-2001)
Sex Differentiation Disorders (1966-1979)
Public MeSH Note: 2002
History Note: 2002
DeCS ID: 36016
Unique ID: D023961
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2002/01/01
Date of Entry: 2001/08/03
Revision Date: 2013/07/09
Gonadal Dysgenesis, 46,XX - Preferred
Concept UI M0368823
Scope note The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.
Preferred term Gonadal Dysgenesis, 46,XX
Entry term(s) Gonadal Dysgenesis, 46, XX
Gonadal Dysgenesis, XX Type
Pure Gonadal Dysgenesis, 46, XX - Narrower
Concept UI M0543251
Preferred term Pure Gonadal Dysgenesis, 46, XX
Entry term(s) Pure Gonadal Dysgenesis, 46,XX



We want your feedback on the new DeCS / MeSH website

We invite you to complete a survey that will take no more than 3 minutes.

Go to survey