Naslov
RUSSELL - SILVER SYNDROME - clinical and molecular perspective

Autori
Kristina Crkvenac Gornik, Ivana Tonkovic Durisevic, Sanda Huljev Frkovic, Iva Kolombo, Ela Brgodac, Vjekoslav Krzelj, Bernarda Lozic.

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
10th ISABS Conference Program and Abstracts / Primorac Dragan i sur. - Zagreb : Internationa Society for Applied Biological Sciences (ISABS), 2017, 306-306

ISBN
978-953-57695-2-1

Skup
10th ISABS Conference

Mjesto i datum
Dubrovnik, Hrvatska, 19.06.2017. - 24.06.2017

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Russell - Silver syndrome, growth hormone therapy

Sažetak
Russell - Silver syndrome (RSS) is a rare genetic disorder characterized by intrauterine and postnatal growth retardation with normal head circumference, specific facial dysmorphia, fifth finger clinodactyly and asymmetry of the face, body and/or limbs. It is a genetically heterogeneous condition that is mostly associated with genetic and epigenetic alterations at chromosome 11p15.5 region and chromosome 7. Most common alteration is 11p15.5 hypomethylation of the paternal imprinting center 1 detected in 30%-50% of individuals with RSS. Growth failure is the primary abnormality. The average adult height of males is 151, 2 cm (-7.8 SD) and that of females is 139.9 cm (-9 SD), if not treated with growth hormone (GH). Children with RSS have benefited from GH supplementation even in the absence of GH deficiency so the GH therapy should be considered in every child with RSS who has not manifested adequate catch-up growth by age 2 years. We present three children with typical clinical characteristics of RSS whose diagnoses were genetically confirmed with the MS-MLPA (methylation specific multiplex ligation- dependent probe amplification). The girl underwent a growth hormone therapy at age 2 years and two boys are yet to be. Many still ongoing studies of children with RSS who have received GH are difficult to interpret because of lack of etiologic data included in these studies, given the known genetic heterogeneity of the RSS. So, it will be important to look at the long-term effects of growth hormone therapy in our patients, especially with respect to influence on final adult height.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA