%0 Journal Article
%T Idiopathic Central Precocious Puberty Associated with 11£¿Mb De Novo Distal Deletion of the Chromosome 9 Short Arm
%A Mariangela Cisternino
%A Erika Della Mina
%A Laura Losa
%A Alexandra Mad¨¨
%A Giulia Rossetti
%A Lorenzo Andrea Bassi
%A Giovanni Pieri
%A Baran Bayindir
%A Jole Messa
%A Orsetta Zuffardi
%A Roberto Ciccone
%J Case Reports in Genetics
%D 2013
%I Hindawi Publishing Corporation
%R 10.1155/2013/978087
%X 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. 1. Introduction Central precocious puberty (CPP) is classically defined by the appearance of sexual secondary characteristics before the age of 8 years in girls and 9 years in boys [1]. It is caused by a premature activation of the hypothalamus-pituitary-gonadal axis. CPP may be either idiopathic or associated with occult intracranial lesion, mainly hypothalamic hamartoma or astrocytoma and noncancerous CNS disorders [2, 3]. This condition may cause early epiphyseal maturation with compromised final height as well as psychological stress [4, 5]. Chromosome 9p deletion syndrome (OMIM#158170) is a well-recognized entity, caused by a constitutional monosomy of a portion of 9p of different sizes in different patients. It was first described by Alfi et al. in 1973 [6]. Until now, approximately 180 cases have been published [7]. The most common features of monosomy 9p syndrome, as described by Swinkels et al. [8], include developmental and psychomotor delay, trigonocephaly, flat midface, short palpebral fissures, highly arched eyebrows, low-set ears, short flat nose with anteverted nostrils, thin upper lip, long philtrum, high palate, micrognathia, short neck, nipple hypertelorism, tapering fingers, flat feet, hypotonia, and developmental sex disorders in XY subjects. The critical region for a consensus phenotype has been reported to be located in a 300£¿Kb region on 9p22.3 [8]. Approximately half of the cases are due to de novo deletions of 9p, the remaining ones to unbalanced translocations with a derivative 9p chromosome. Few cases have been reported with 9p distal deletion concomitant to 9q distal
%U http://www.hindawi.com/journals/crig/2013/978087/