hrp0092p2-56 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

a case report of a girl with short stature has laron syndrome and spondyloepimetaphyseal dysplasia

Alshahrany abdullah , Alshahrany nouf

20 months old girl has frequent hypoglycemias, protruding forehead(frontal bossing), sunken bridge of the nose (saddle nose), and a blue tint to the whites of the eyes (blue sclerae). short limbs compared to the size of her torso, as well as small hands and feet, fragile thin hair,short limbs, Genu varum, Brachydactyly,malar falttening, motor delay, delayed teeth eruption, when plotted to growth chart height found far below the third centile for age,sex,population, Hre laborat...

hrp0084p3-1164 | Puberty | ESPE2015

The Relationship between Xenoestrogens Exposure and Early Puberty among Young Females Living in Jeddah, Saudi Arabia

Alnwsany Nouf , Al-Agha Abdulmoein

Background: Xenoestrogens are artificial oestrogen compounds, found in our environment throughout various chemical products, and claimed to affect the process of early puberty among young females.Objective and hypotheses: To investigate the relationship between exposure to xenoestrogen products and early pubertal sex development.Method: Cross-sectional study conducted in Jeddah, Saudi Arabia in July 2014 (n=568), pubertal ...

hrp0097p2-274 | Late Breaking | ESPE2023

Familial Chylomicronaemia Syndrome; A Challenging Condition in Pre-School Aged Children.

Alsaffar Hussain , Al-Battashi Sultan , Al-Kindi Fatima , Al-Shidhani Azza , Al-Farsi Nouf , Al-Rawahi Yusriya , Al-Waili Khalid

Introduction: Familial chylomicronaemia syndrome (FCS) is a rare autosomal recessive disorder caused by mutations in lipoprotein lipase, resulting in the accumulation of chylomicrons in plasma and therefore hypertriglyceridemia. Elevated triglycerides (TG) cause several complications, the most serious one is recurrent pancreatitis. The mainstream of management is a fat-restricted diet, followed by supplementing with Omega-3 fatty acids. Fenofibrate, and statin...