Περίληψη:
To correlate the origin of the retained X in Turner syndrome with
phenotype, pre-treatment height and response to recombinant human growth
hormone (rhGH) therapy, systematic clinical assessment and molecular
studies were carried out in 33 Greek children with Turner syndrome and
their parents including Is children with 45,X and 15 with X-mosaicism.
Microsatellite markers on X chromosomes (DXS101 and DXS337) revealed
that the intact X was paternal (Xp) in 15/30 and maternal (Xm) in 15/30
children, while 3/33 families were non-informative. No significant
relationship was found between parental origin of the retained X and
birth weight/length/gestational age, blepharoptosis, pterygium colli,
webbed neck, low hairline, abnormal ears, lymphoedema, short 4th
metacarpal, shield chest, widely spaced nipples, cubitus valgus,
pigmented naevi, streak gonads, and cardiovascular/renal anomalies. With
regard to the children’s pre-treatment height, there was a significant
correlation with maternal height and target height in both Xm and Xp
groups. No differences were found between Xm and Xp groups and the
improvement of growth velocity (GV) during the first and second year of
rhGH administration, while for both groups GV significantly improved
with rhGH by the end of the first and the second year. To our knowledge.
this is the first attempt to correlate the parental origin of Turner
syndrome with the response to rhGH therapy.
Συγγραφείς:
Tsezou, A
Hadjiathanasiou, C
Gourgiotis, D
Galla, A and
Kavazarakis, E
Pasparaki, A
Kapsetaki, M
Sismani, C and
Theodoridis, C
Patsalis, PC
Moschonas, N
Kitsiou, S
