关键词: 纤维发育不良，多骨, 外周性性早熟, 咖啡牛奶斑, 诊断, 治疗, 预后

Abstract:

McCune-Albright syndrome (MAS) is a rare disease caused by somatic gene mutations, characterized by complex and variable clinical manifestations, posing significant challenges in diagnosis and management. This report presents a case of a 2-year-1-month-old girl with MAS. Her clinical features included peripheral precocious puberty without osteofibrous dysplasia or cutaneous café-au-lait spots. Laparoscopic ovarian cystectomy was performed, and genetic analysis of the cyst wall tissue returned positive, peripheral blood genetic testing yielded negative results, confirming MAS. Following cyst removal, no recurrence of precocious puberty symptoms was observed. Retrospective analysis of this case suggests that the classic triad of peripheral precocious puberty, osteofibrous dysplasia, and cutaneous café-au-lait spots is infrequently present in MAS patients. Additionally, the diagnostic yield of genetic testing from peripheral blood is low, whereas testing of affected tissues such as ovarian cysts, skin, or bone can significantly improve detection rates. Laparoscopic ovarian cystectomy is minimally invasive, facilitates rapid postoperative recovery, provides tissue with high diagnostic utility for MAS, and may serve as an effective intervention for peripheral precocious puberty.

Key words: Fibrous dysplasia, polyostotic, Peripheral precocious puberty, Café-au-lait spots, Diagnosis, Therapy, Prognosis