title: Recurrent ovarian cyst and mutation of the Gs alpha gene in ovarian cyst fluid cells: what is the link with McCune-Albright syndrome?
abstract: Isolated peripheral precocious puberty due to recurrent ovarian cysts evokes a McCune-Albright syndrome (MAS). This syndrome associates endocrine dysfunction such as precocious puberty, polyostotic fibrous dysplasia, and "café-au-lait" skin lesions. We report the case of a 3-y-old girl who presented with peripheral puberty with extremely elevated oestradiol level, low LH and FSH levels, and an ovarian cyst that quickly resolved. Skeletal X-rays were normal and she had no café-au-lait spots. GnRH analogue treatment was ineffective. A second ovarian cyst appeared and was completely drained under ultrasonographic guidance. Molecular biological analysis performed on fluid cells revealed the Arg201-->His mutation of the Gs alpha gene described in MAS. Percutaneous aspiration of simple ovarian cyst to detect "MAS" mutation is of interest in the diagnosis of recurrent ovarian cyst.
authors.affiliation: Unité d'Endocrinologie et de Génétique Médicale, Service de Pédiatrie, Toulouse, France.
authors.forename: C
authors.initials: C
authors.lastname: Pienkowski
authors.forename: S
authors.initials: S
authors.lastname: Lumbroso
authors.forename: E
authors.initials: E
authors.lastname: Bieth
authors.forename: C
authors.initials: C
authors.lastname: Sultan
authors.forename: P
authors.initials: P
authors.lastname: Rochiccioli
authors.forename: M
authors.initials: M
authors.lastname: Tauber
mesh_terms: D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000175:diagnosis / Q000235:genetics*; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010048:Ovarian Cysts / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012008:Recurrence
chemical_list: D019205:GTP-Binding Protein alpha Subunits, Gs