 Gonadal Dysgenesis, 46,XX
"Gonadal Dysgenesis, 46,XX" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D023961
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| MeSH Number(s) |
C12.706.316.064.249 C12.706.316.309.193 C13.351.875.253.064.249 C13.351.875.253.309.193 C16.131.939.316.064.249 C16.131.939.316.309.193 C19.391.119.064.249 C19.391.119.309.193
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Gonadal Dysgenesis, 46,XX".
- Diseases [C]
- Male Urogenital Diseases [C12]
- Urogenital Abnormalities [C12.706]
- Disorders of Sex Development [C12.706.316]
- 46, XX Disorders of Sex Development [C12.706.316.064]
- Gonadal Dysgenesis, 46,XX [C12.706.316.064.249]
- Gonadal Dysgenesis [C12.706.316.309]
- Gonadal Dysgenesis, 46,XX [C12.706.316.309.193]
- Female Urogenital Diseases and Pregnancy Complications [C13]
- Female Urogenital Diseases [C13.351]
- Urogenital Abnormalities [C13.351.875]
- Disorders of Sex Development [C13.351.875.253]
- 46, XX Disorders of Sex Development [C13.351.875.253.064]
- Gonadal Dysgenesis, 46,XX [C13.351.875.253.064.249]
- Gonadal Dysgenesis [C13.351.875.253.309]
- Gonadal Dysgenesis, 46,XX [C13.351.875.253.309.193]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
- Urogenital Abnormalities [C16.131.939]
- Disorders of Sex Development [C16.131.939.316]
- 46, XX Disorders of Sex Development [C16.131.939.316.064]
- Gonadal Dysgenesis, 46,XX [C16.131.939.316.064.249]
- Gonadal Dysgenesis [C16.131.939.316.309]
- Gonadal Dysgenesis, 46,XX [C16.131.939.316.309.193]
- Endocrine System Diseases [C19]
- Gonadal Disorders [C19.391]
- Disorders of Sex Development [C19.391.119]
- 46, XX Disorders of Sex Development [C19.391.119.064]
- Gonadal Dysgenesis, 46,XX [C19.391.119.064.249]
- Gonadal Dysgenesis [C19.391.119.309]
- Gonadal Dysgenesis, 46,XX [C19.391.119.309.193]
Below are MeSH descriptors whose meaning is more specific than "Gonadal Dysgenesis, 46,XX".
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