title: Precocious puberty in a patient with Oculo-Auriculo-Verebral spectrum (OAVS).
abstract: The authors report on the first case of OAVS (Oculo-Auriculo- Vertebral-Spectrum), with hemifacial microsomy, hydrocephalus, pubertas precox, thelarche at 4 years of age, vaginal bleeding at 5 years, and left ovary of adult type on echography (right ovary initially not visualized). FISH and CGH-ARRAYS methods were negative. By GnRH therapy the delay of onset puberty was obtained. The authors ascribe facial and ovary asymmetry to a derangement of blastogenesis, during which axial right-left structures begin the develop with consequent migration or interation with surrounding tissues of neural crest cells and alteration of diencephalic pituitary systems.
authors.affiliation: Dipartimento DINOGMI Università di Genova, Genova. agostinoberio@ospedale-gaslini.ge.it.
authors.forename: A
authors.initials: A
authors.lastname: Berio
authors.forename: G
authors.initials: G
authors.lastname: Garlaschi
authors.forename: A
authors.initials: A
authors.lastname: Piazzi
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities; D005260:Female; D006053:Goldenhar Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D008572:Menarche / Q000235:genetics; D009056:Mouth Abnormalities / Q000235:genetics; D011629:Puberty, Precocious / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D012600:Scoliosis / Q000235:genetics