Unit:
Κατεύθυνση Ιατρική Γενετική: Κλινική και Εργαστηριακή ΚατεύθυνσηLibrary of the School of Health Sciences
Supervisors info:
Ιωάννα-Ραχήλ Συνοδινού-Traeger, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Νικολέττα Σελέντη, Ακαδημαϊκή υπότροφος, Ιατρική Σχολή, ΕΚΠΑ
Χαραλαμπία Τσαρουχά, Ακαδημαϊκή υπότροφος, Ιατρική Σχολή, ΕΚΠΑ
Original Title:
Κυτταρογενετική διερεύνηση παιδιών με κοντό ανάστημα
Translated title:
Cytogenetic investigation of children with short stature
Summary:
Children are often referred to paediatricians, paediatric endocrinologists and the corresponding clinics for evaluation of their short stature. A child is short when his height is 2 or more SDS below the average for his gender, age and origin. An important parameter to determine if a child suffers from really short stature, is to calculate the height velocity. Height velocity is within the normal range when short stature is due to non-pathological etiologies such as Familial Short Stature and Constitutional Delay of Growth and Puberty, which are the most common causes provoking short stature. Otherwise height velocity is decreased when short stature is due to pathological causes. Common pathological causes leading to short stature are: growth hormone deficiency, skeletal malformations, genetic syndromes, chronic systemic diseases and chromosomal anomalies.
The aim of this master thesis is to investigate the causes of short stature in children, who do not present any other dysmorphic features, known pathological conditions or congenital anomalies, and can be detected through cytogenetic analysis.
Numerical and structural chromosomal abnormalities and rearrangements of size 5-10 Mb can be detected through the karyotype technique. For the purposes of this thesis, a bibliographical search was carried out in online available data bases using keywords.
Turner syndrome (monosomy 45,Χ) and its variants (Turner-like) were found to be the main chromosomal abnormalities leading to girls with short stature. Girls having Turner syndrome and identical karyotypes may present different characteristics and symptoms, which range from just short stature to severe congenital heart disease. Patients who will not be diagnosed during childhood are likely to be diagnosed during adolescence due to amenorrhea (primary or secondary). Cytogenetic examination is recommended to all short girls with stature below 2 SDS and unexplained cause after extensive investigation.
Early diagnosis in children with short stature and Turner syndrome allows the best management through administration of appropriate treatments, which is of utmost importance in order for them to reach the target height, to move into adolescence at the same time as their peers, to have descendants as adults and keep under control the high risk of morbidity. Counselling for both patient and family members provides valuable lifelong guidance in making the right decisions, continuing close monitoring even after late-stage adolescence and providing appropriate information on reproduction options.
Main subject category:
Health Sciences
Keywords:
Medical genetics, Cytogenetics, Chromosomal abnormalities, Karyotype, Short stature, Height velocity, Turner syndrome
