title: Postpubertal Persistent Hyperestrogenemia in McCune-Albright Syndrome: Unilateral Oophorectomy Improved Fertility but Detected an Unexpected Borderline Epithelial Ovarian Tumor.
abstract: BACKGROUND
  McCune-Albright syndrome (MAS), due to a somatic mutation of the GNAS1 gene, begins usually in girls with peripheral precocious puberty. Ovarian autonomy may persist in adulthood with acyclic hyperestrogenemia, infertility, and a potential risk of estrogen-dependent cancer.
  
  
  METHODS
  A 22-year-old woman, with MAS, was referred for infertility with left macropolycystic ovary, hyperestrogenemia, and chronic anovulation unsuccessfully treated by controlled hyperstimulation. Once ovarian cyst punctures and cDNA analysis verified that GNAS1 mutation was restricted to the left ovary, unilateral ovariectomy was performed. It improved right ovarian function, allowed an in vitro fertilization-induced pregnancy, but revealed an unexpected borderline epithelial ovarian tumor.
  
  
  CONCLUSIONS
  Several breast cancers have already been reported in young MAS patients but not a borderline epithelial ovarian tumor. In this context, we would recommend that persistent hyperestrogenemia in an adult be corrected and gynecological follow-up of the breasts, ovaries, and endometrium be implemented.
authors: Department of Endocrinology and Reproductive Medicine, University Hospital of Nice, INSERM U1065/C3M, Nice, France.
authors: Nicolas
authors: N
authors: Chevalier
authors: Department of Hormonology and Pediatric Endocrinology, University Hospital of Montpellier, Montpellier, France.
authors: Françoise
authors: F
authors: Paris
authors: Department of Endocrinology and Reproductive Medicine, University Hospital of Nice, INSERM U1065/C3M, Nice, France.
authors: Sylvie
authors: S
authors: Fontana
authors: Department of Obstetrics, Gynecology, Reproduction and Fetal Medicine, University Hospital of Nice, Nice, France.
authors: Jérôme
authors: J
authors: Delotte
authors: Department of Hormonology and Pediatric Endocrinology, University Hospital of Montpellier, Montpellier, France.
authors: Laura
authors: L
authors: Gaspari
authors: Biochemistry Department, University Hospital of Nice, Nice, France.
authors: Patricia
authors: P
authors: Ferrari
authors: Department of Obstetrics, Gynecology, Reproduction and Fetal Medicine, University Hospital of Nice, Nice, France.
authors: Charles
authors: C
authors: Sultan
authors: Department of Endocrinology and Reproductive Medicine, University Hospital of Nice, INSERM U1065/C3M, Nice, France. Electronic address: fenichel.p@chu-nice.fr.
authors: Patrick
authors: P
authors: Fénichel
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D004967:Estrogens / Q000097:blood; D005260:Female; D005298:Fertility; D005359:Fibrous Dysplasia, Polyostotic / Q000150:complications* / Q000601:surgery; D006801:Humans; D007247:Infertility, Female / Q000209:etiology / Q000601:surgery; D008279:Magnetic Resonance Imaging; D010048:Ovarian Cysts / Q000175:diagnosis; D010051:Ovarian Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D010052:Ovariectomy / Q000379:methods*; D011247:Pregnancy; D055815:Young Adult
chemical_list: D004967:Estrogens
keywords: Acromegaly; Borderline ovarian tumor (BOT); Estrogen-dependent cancer; McCune–Albright syndrome; Oncogenic GNAS1 gene mutation