Fetal ovarian cysts: an early manifestation of McCune-Albright syndrome?
OBJECTIVE
Beyond the classic triad of peripheral precocious puberty, café-au-lait skin pigmentation and polyostotic fibrous dysplasia, partial presentation McCune-Albright 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 Gsα activating mutation, suggestive of MAS.


METHODS
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 Gsα activating mutation in DNA obtained from ovarian cystic fluids or tissue.


RESULTS
Among the five cases, one Gsα 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 Gsα 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.
Unité d'Endocrinologie-Gynécologie Pédiatriques, Service de Pédiatrie, Hôpital Arnaud-de-Villeneuve, CHU Montpellier et Université Montpellier 1, Montpellier, France.
Laura
L
Gaspari
Françoise
F
Paris
Marc
M
Nicolino
Frédéric
F
Hameury
Hélène
H
Bonnaure
Catherine
C
Pienkowski
Nadège
N
Servant
Nicolas
N
Kalfa
Charles
C
Sultan
D002648:Child; D002675:Child, Preschool; D002864:Chromogranins; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D042241:Early Diagnosis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000209:etiology / Q000235:genetics; D005359:Fibrous Dysplasia, Polyostotic / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D005500:Follow-Up Studies; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010048:Ovarian Cysts / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000209:etiology / Q000235:genetics; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
D002864:Chromogranins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs