Amenorrea primaria in una adolescente con iperprolattinemia: mancato riconoscimento di una sindrome di Turner

We report a case of a 14-year-old girl with primary amenorrhoea and hyperprolactinaemia. One year treatment with cabergoline – a dopamine agonist – caused a significant reduction in serum prolactin (PRL) concentration without a normalisation of menstrual cycle. After our examination, Turner’s syndrome (45X0/46XY mosaicism) was diagnosed. Turner’s syndrome (TS) is characterised by short stature, streak gonads, infertility, and hearth and kidney malformations. The presence of Y chromosome fragments in patients with TS is known to increase the risk of gonadoblastoma. The patient underwent prophylactic gonadectomy and received substitutive estrogenic therapy.