Publication:

Diagnostic value of ovarian tissue biopsy in McCune–Albright syndrome presenting with recurrent hemorrhagic ovarian cysts and precocious puberty

We report the case of a 12-year-old girl with recurrent hemorrhagic ovarian cysts and peripheral precocious puberty (PPP), managed sequentially with gonadotropin-releasing hormone analogs, aromatase inhibitors, and combined oral contraceptives. Pelvic imaging revealed a complex hemorrhagic cyst in the left ovary. Owing to the atypical presentation and inconclusive peripheral blood genetic testing, an ovarian tissue biopsy was undertaken. Molecular analysis of the ovarian tissue identified a pathogenic heterozygous variant, c.602G>A (p.Arg201His), in exon 8 of the GNAS gene, confirming the diagnosis of McCune–Albright syndrome (MAS). This case highlights the diagnostic utility of ovarian tissue biopsy and targeted molecular testing in suspected MAS, particularly in the absence of classical phenotypic features and when peripheral testing fails to detect mosaic GNAS mutations.