Gonadal Dysgenesis, 46,XX [gonadální dysgeneze karyotypu 46,XX]
- Terms
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čistá forma gonadální dysgeneze typu 46,XX
dysgeneze gonád typu 46,XX
gonády - dysgeneze, 46,XX
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Gonadal Dysgenesis, 46, XX
Gonadal Dysgenesis, XX Type
Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46,XX
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.
- DUI
- D023961 MeSH Browser
- CUI
- M0368823
- Previous indexing
- Sex Differentiation Disorders (1966-1979); Gonadal Dysgenesis (1980-2001)
- History note
- 2002
- Public note
- 2002
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications
- DI
- diagnosis
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology
- GE
- genetics 1
- HI
- history
- IM
- immunology
- ME
- metabolism
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology
- PP
- physiopathology
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy
- UR
- urine
- VE
- veterinary
- VI
- virology
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