title: Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm.
abstract: We report a girl with a de novo distal deletion of 9p affected by idiopathic central precocious puberty and intellectual disability. Genome-wide array-CGH revealed a terminal deletion of about 11 Mb, allowing to define her karyotype as 46; XX, del(9)(p23-pter). To our knowledge, this is the second reported case of precocious puberty associated with 9p distal deletion. A third case associates precocious puberty with a more proximal 9p deletion del(9)(p12p13,3). In our case, more than 40 genes were encompassed in the deleted region, among which, DMRT1 which is gonad-specific and has a sexually dimorphic expression pattern and ERMP1 which is required in rats for the organization of somatic cells and oocytes into discrete follicular structures. Although we cannot exclude that precocious puberty in our del(9p) patient is a coincidental finding, the report of the other two patients with 9p deletions and precocious puberty indeed suggests a causative relationship.
authors: Department of Pediatrics, IRCCS Policlinico San Matteo, University of Pavia, Piazzale Golgi 19, 27100 Pavia, Italy.
authors: Mariangela
authors: M
authors: Cisternino
authors: Erika
authors: E
authors: Della Mina
authors: Laura
authors: L
authors: Losa
authors: Alexandra
authors: A
authors: Madè
authors: Giulia
authors: G
authors: Rossetti
authors: Lorenzo Andrea
authors: LA
authors: Bassi
authors: Giovanni
authors: G
authors: Pieri
authors: Baran
authors: B
authors: Bayindir
authors: Jole
authors: J
authors: Messa
authors: Orsetta
authors: O
authors: Zuffardi
authors: Roberto
authors: R
authors: Ciccone
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