46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.

Synonyms: 46,XX pure gonadal dysgenesis XX female gonadal dysgenesis 46,XX complete gonadal dysgenesis FSH-RO Follicular stimulating hormone-resistant ovaries XX-GD 46,XX ovarian dysgenesis Hypergonadotropic ovarian dysgenesis

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Term information

hasDbXref

UMLS:C0949595

UMLS:C0685837

OMIM:233300

OMIM:618117

ICD-10:Q99.1

OMIM:614324

OMIM:618723

OMIM:618078

OMIM:300510

MeSH:D023961

notation

ORPHA:243