Prader-Willi syndrome diagnosed in adulthood: A case report / 中华内分泌代谢杂志

ABSTRACT

This article reports a case of Prader-Willi syndrome(PWS) diagnosed in adulthood. PWS is a rare genetic disease with most of the reported cases being diagnosed in infancy and childhood, and adulthood case is rarely reported. The patient had insidious symptoms in infancy and was diagnosed as PWS using genetic test in adulthood due to diabetes and menstrual disorders. This article focuses on the patient′s clinical manifestations in adulthood, and reviews relevant literature to improve the understanding of the disease.