Publications by authors named "Barbara Fraccascia"

Complete androgen insensitivity syndrome (CAIS) is a rare disorder of sex development characterized by 46,XY karyotype and testes, yet presenting with a complete female phenotype, which is related to mutations in the androgen receptor () gene. We herein present the case of a 14-year-old adolescent with primary amenorrhea and suspected delayed puberty whose diagnostic journey led to the identification of CAIS through the demonstration of a novel variant (c.159_207del).

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A correlation between plasma lipids and timing of pubertal development has been hypothesized, though lipid influence remains unclear in central precocious puberty (CPP). To assess any possible alterations in the lipid profile and triglyceride glucose index (TyG) in children diagnosed with CPP. Retrospective single-center study conducted on children (aged 6.

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