Résumé
Objective Beyond the classic triad of peripheral precocious puberty, cafe-au-lait skin pigmentation and polyostotic fibrous dysplasia, partial presentation McCuneAlbright syndrome (MAS) has been reported, including the association of isolated recurrent ovarian cysts in early infancy. The aims of this study were to determine whether isolated voluminous fetal unilateral ovarian cysts (diameter?>?4?cm) may be associated with a Gsa activating mutation, suggestive of MAS. Design We followed five female fetuses presenting with voluminous unilateral ovarian cysts by ultrasonography until delivery. At birth, all patients underwent percutaneous cyst aspiration and two patients later underwent ovariectomy. A sensitive PCR-based method was used to analyze the Gsa activating mutation in DNA obtained from ovarian cystic fluids or tissue. Results Among the five cases, one Gsa mutation (R201C) was identified in the ovarian tissue. Conclusions We demonstrate for the first time that voluminous fetal unilateral ovarian cysts may be suggestive of MAS. Systematic search for the Gsa mutation should be performed in all newborns with voluminous fetal unilateral ovarian cysts requiring percutaneous cyst aspiration, because early diagnosis of MAS prevents unnecessary oophorectomy to eliminate questions of malignancy and imposes long-term clinical, biological, and imaging follow-up to detect other early manifestations of MAS. (c) 2012 John Wiley & Sons, Ltd.