Publications by authors named "Annalisa Boneschi"

Introduction: Among girls assessed for pubertal precocity, pelvic ultrasound (pUS) may represent a pivotal tool to predict the time expected to elapse between sonographic assessment and the onset of menarche (T). Accordingly, the present analysis is meant to define the statistical relationship between sonographic parameters and T, in order to identify the most reliable predictor of the timing of menarche.

Methods: Retrospective, multicenter analysis.

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Non-syndromic primary ovarian insufficiency due to ovarian dysgenesis in 46,XX patients is an uncommon finding in the general population, even though several monogenic variants have been reported as causative factors. Here, we describe a 15-year-old patient diagnosed with gonadal dysgenesis possibly due to the interaction of three potentially pathogenic variants of genes involved in ovarian maturation, namely (), () and (). We also describe a different degree of residual ovarian function within the proband's family, whose female members carry one to three demonstrated variations in the aforementioned genes in a clinical potentially dependent on the number of alleles involved.

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