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Descriptor English: Gonadal Dysgenesis, Mixed
Descriptor Spanish: Disgenesia Gonadal Mixta
Descriptor disgenesia gonadal mixta
Scope note: Tipo de desarrollo gonadal defectuoso en pacientes con un amplio espectro de variantes cromosómicas en mosaico. Sus cariotipos son de monosomía sexual parcial resultante de la ausencia de un segundo cromosoma sexual anormal (X or Y). Los cariotipos comprenden 45,X/46,XX, 45,X/46,XX/47,XXX, 46,XXp-, 45,X/46,XY, 45,X/47,XYY, 46,XYpi; etc. El espectro de fenotipos puede oscilar desde la hembra fenotípica al varón fenotípico pasando por el verdadero pseudohermafrodita, dependiendo del cociente en cada gónada entre las células germinales primordiales 45,X y las que tienen una constitución 46,XX o 46,XY normal.
Descriptor Portuguese: Disgenesia Gonadal Mista
Descriptor French: Dysgénésie gonadique mixte
Entry term(s): Mixed Gonadal Dysgenesis
Tree number(s): C12.050.351.875.253.309.391
C12.050.351.875.253.795.249
C12.200.706.316.309.391
C12.200.706.316.795.249
C12.800.316.309.391
C12.800.316.795.249
C16.131.260.830.835.249
C16.131.939.316.309.391
C16.131.939.316.795.249
C16.320.180.830.835.249
C19.391.119.309.391
C19.391.119.795.249
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D006060
Scope note: A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.
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: Sex Differentiation Disorders (1966-1979)
Turner's Syndrome (1967-1979)
Public MeSH Note: 91; was see under GONADAL DYSGENESIS 1980-90
History Note: 91(80); was see under GONADAL DYSGENESIS 1980-90
DeCS ID: 6207
Unique ID: D006060
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1991/01/01
Date of Entry: 1978/12/21
Revision Date: 2013/07/09
Gonadal Dysgenesis, Mixed - Preferred
Concept UI M0009538
Scope note A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.
Preferred term Gonadal Dysgenesis, Mixed
Entry term(s) Mixed Gonadal Dysgenesis



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