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Inherited primary ovarian failure
- ... not have ovaries, they are unaffected. FMR1-related primary ovarian insufficiency FXPOI Premature ovarian failure 1 X-linked hypergonadotropic ovarian failure Genetic Testing ...
- ... moderate intellectual disability.Most affected woman have premature ovarian failure and do not begin menstruation by age 16 (primary amenorrhea) or have infrequent menstrual periods. Most women ...
- ... and symptoms of mild cases can include a failure to begin menstruation by age 16 (primary amenorrhea), an inability to have biological children (infertility) in both men and women, and a condition called polycystic ovarian syndrome (PCOS). PCOS is characterized by a hormonal ...
- ... FOXL2 PubMed FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2 PREMATURE OVARIAN FAILURE 3; POF3 NCBI Gene ClinVar Beysen D, De ... Mutant Forkhead L2 (FOXL2) proteins associated with premature ovarian failure (POF) dimerize with wild-type FOXL2, leading to ...
- ... encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am J ...
- ... like syndrome Mullerian aplasia and hyperandrogenism Müllerian duct failure WNT4 deficiency WNT4 Müllerian aplasia WNT4 Müllerian aplasia and ovarian dysfunction Genetic Testing Registry: Mullerian aplasia and hyperandrogenism ...