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Article

Characterization of a novel mutation V136L in bone morphogenetic protein 15 identified in a woman affected by POI.

Journal of ovarian research - 29 Jun 2021

Ferrarini Eleonora, De Marco Giuseppina, Orsolini Francesca, Gianetti Elena, Benelli Elena, Fruzzetti Franca, Simoncini Tommaso, Agretti Patrizia, Tonacchera Massimo

Abstract excerpt

BACKGROUND: Premature ovarian insufficiency (POI) is an ovarian defect characterized by primary or secondary amenorrhea, hypergonadotropism and hypoestrogenism which occurs before the age of 40 years with a major genetic component. In this study we performed clinical evaluation and genetic analysis of a group of 18 patients with POI. The study involved 18 consecutive women with POI. Karyotiping and genetic...

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Identifiers

PMID: 34187539
DOI: 10.1186/s13048-021-00836-7
PMCID: PMC8244212

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