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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease turner syndrome
Comorbidity C0021359|infertility
Sentences 4
PubMedID- 25202833 Hippo signaling disruption after ovarian fragmentation, combined with treating ovarian fragments with phosphatase and tensin homolog (pten) inhibitors and phosphoinositide-3-kinase stimulators to augment akt signaling, promote the growth of preantral follicles in patients with primary ovarian insufficiency, leading to a new infertility intervention for such patients.
PubMedID- 21272868 Patient(s): a 29 year-old female, a partner in a couple with male factor infertility, was diagnosed with mosaic turner syndrome with a 45,x [17]/46,xx [13] karyotype.
PubMedID- 26488602 Barriers in communication and available resources to facilitate conversation about infertility with girls diagnosed with turner syndrome.
PubMedID- 25710488 Our earlier studies demonstrated that short-term exposure of human ovarian fragments with akt stimulators (pten inhibitors and pi3k activators) promotes follicle growth and allow the generation of mature oocytes in ovarian grafts in a subpopulation of patients with primary ovarian insufficiency [16], leading to a new infertility treatment approach.

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