الفهرس 
IntroductionOnly 14 pages are availabe for public view
 |  | from | 143 |  |  |
| | | from | 143 | | |
Abstract
Precocious puberty (PP) is defined as the development of pubertal
changes, at an age younger than the accepted lower limits for age of onset
of puberty, namely, before age 8 years in girls and 9 years in boys. PP is
responsible for early progression of secondary sexual characters, rapid
bone maturation, reduced final height, inappropriate body appearance and
psychological behavioral abnormalities.
PP may be classified as gonadotropin dependent, progressive
(central/true PP) or gonadotropin independent (peripheral/pseudo PP).
The hypothalamus, pituitary and gonad (HPG) axis is active in both
physiological puberty and central true PP. However, pseudo- or
peripheral PP is independent of gonadotropin secretion and there is no
activation of the HPG axis. The source of sex steroids is exogenous
and/or endogenous in this group.
The etiology of CPP cannot be established in many cases in girls
and the condition is diagnosed as idiopathic.
The genes encoding prokineticin receptors are located on two
different chromosomes: the PROKR1 gene is located on chromosome 2
(2p13.3) and the PROKR2 gene is located on chromosome 20 (20p13).
Five polymorphisms of PROKR2 were found (rs6076809,
rs8116897, rs3746684, rs3746682, rs3746683). We studied the most
common PROKR2 pleomorphic (rs3746684) role in idiopathic central
precocious puberty.
Sequence variants in PROKRs genes are also associated with
congenital diseases: a mutation in the PROKR2 gene can lead to
Kallmann syndrome, while sequence variations in PROKR1 and PROKR2 are associated with Hirschsprung syndrome (HSCR), a
syndrome characterized by the absence of enteric neural crest cells (NCC)
in the distal part of the colon.
Our study aimed to clinically assess a group of female patients
suffering from idiopathic CPP, and to identify the role of PROKR2 gene
(rs3746684 polymorphism) in idiopathic CPP.
This study was conducted on 120 female children (60 female
children diagnosed as idiopathic central precocious puberty and another
60 apparently healthy females matched with patient group in age and
socioeconomic standards as a control) from our endocrinology outpatient
clinic of Menoufia University over a period of one year.