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ovarian dysgenesis 1; gonadal dysgenesis XX type; XX gonadal dysgenesis (XXGD); hereditary hypergonadotropic ovarian failure; hypergonadotropic ovarian dysgenesis with normal karyotype
Genetics:
- autosomal recessive
- associated with defects in FSHR
Clinical manifestations:
- primary amenorrhea
- variable development of secondary sex characteristics
Laboratory:
- high serum FSH & serum LH
- FSHR gene mutation
Related
follicle-stimulating hormone receptor; FSH-R; follitropin receptor (FSHR, LGR1)
General
ovarian dysgenesis
Database Correlations
OMIM 233300]
References
UniProt :accession P23945