الفهرس 
Aim of the workOnly 14 pages are availabe for public view
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Abstract
Precocious puberty is defined as the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Two types of precocious puberty are recognized, central precocious puberty (CPP) and peripheral precocious puberty (PPP).
CPP, which is also called GnRH-dependent precocious puberty, is caused by early activation of the HPG axis. It is more common in girls and is usually idiopathic. Secondary causes of CPP includes brain tumors, brain infections, congenital brain defects, radiation or injury to the brain or spinal cord, and brain ischaemia. The most common cause of CPP is hypothalamic tumour, in particular the tuber cinereum hamartoma followed by hydrocephalus and previous central nervous system (CNS) injury.
MKRN3 gene, located on chromosome 15 in the Prader–Willi syndromeassociated region (15q11-q13), has been found mutated in five families with familial precocious puberty. Several other loss-of-function mutations have been described later making MKRN3 defects the most frequent genetic cause of CPP reported until now. The function of this gene is not completely known but it is involved in several cellular functions such as RNA, and DNA binding.
Therefore, this study was aimed to identify prevalence of precocious puberty in random group of Egyptian children and estimation of serum level of MKRN3 protein before and after treatment in patients with central precocious puberty.
This study was carried out on 80 children diagnosed as idiopathic central precocious puberty from 162 children suffered from precocious puberty from flow rate 3000 children of one year from health insurance, general pediatric and endocrine clinic in Menoufia governorate.
Patients and methods
One hundred sixty-two precocious puberty children were subjected to detailed history taking, anthropometric measurements, vital sign, complete systemic examination, investigation as laboratory and radiological. Then eighty children of them diagnosis as ICPP. Also subjected to:
a. Detailed histoy including:
Personal history (Name, age, sex and socioeconomic)
Family history (History of cases with precocious puberty)
Consanguinity
Past history of illness or drugs
b. Anthropometric measurements
Height (cm) on z score
Weight (kg) on z score
BMI (Kg/m2) on z score
c. Examination including:
General Examination including skin, hair and thyroid.
Vital signs (HR, blood pressure, temperature, respiratory rate)
Complete systemic examination including:
Abdominal examination to exclude any abdominal mass or ovarian cyst.
CNS examination to exclude any organic brain lesion as a cause of central precocious puberty.
Local examination:
Examination to external genitalia
d. Investigation:
Radiological:
X-ray on left hand and wrist to determine bone age.
Pelvi abdominal ultrasound to exclude any ovarian or adrenal tumor
MRI brain for all cases of CPP to exclude any lesion cause central precocious puberty.
Laboratory
Measurement of FSH, LH levels.
Measurement of sex hormone (E2 and Testosterone level).
LHRH stimulation test.
Pre and post treatment estimation of serum MKRN3 protein level by Enzyme Linked Immunosorbent Assay (ELISA).
Results:
This study was conducted on 162 (5.4%) children with precocious puberty from health insurance, general paediatric and endocrine clinic, Menoufia governorate out of a flow rate of 3000 children over a period of one year. which included 80 children with idiopathic central precocious puberty.
Their age ranged from 2 to 8 years with a mean of 5.1±2.04 there was a female predominance (62.96%) and negative Consanguinity (51.9%). The past history was free in 159 patients (98.15%), and epilepsy in 3 patients (1.85%). 78 patients (48.1%) with +ve family history. The age of onset of precocious puberty in those patients ranged from 1 to 7 years with a mean of 4.1±2.04. The mean ages of father and mother puberties were 13.43±1.07 and 10.98±0.81, respectively. Their clinical presentation was: adrenarche in 146 patients (90.1%), thelarce in 90 patients (55.5%), menarche in 37 patients (22.8%). Male genetalia showed virilization in 60 patients (37.04%), while their genital examination was free with Tanner Stage II in 61 patients (37.7%) and Stage III in 101 patients (62.3%).