Page 93 - MemoriaER-Eng

www.ciberer.es

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Most relevant labarta Ji, barrio e, audí l, Fernández-cancio M, andaluz P, de arriba a, PuGa b, calVo Mt, Mayayo e,
carrascosa a, Ferrández-lonGás a. Familial short stature and intrauterine growth retardation as-
scientific sociated with a novel mutation in the IGF-I receptor (IGF1R) gene. Clin Endocrinol (Oxf). 2013

articles
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• audí l, carrascosa a. Clinical usefulness of growth hormone secretion elicited by acute stimula-
tion tests. Clin Endocrinol (Oxf). 2013 Aug;79(2):168-9. doi: 10.1111/cen.12173. Epub 2013
May 20. Erratum in: Clin Endocrinol (Oxf). 2013 Dec;79(6):904. Laura, Audí [corrected to Audí,

Laura]; Antonio, Carrascosa [corrected to Carrascosa, Antonio]. PubMed PMID: 23442210.

• carrascosa a, audí l, Fernández-cancio M, yeste d, Gussinye M, caMPos a, albisu Ma, cleMente M, bel
J, nosás r, rabanal M, del Pozo c, GóMez JM, Mesa J; GrouP For short stature study. Height gain

at adult-height age in 184 short patients treated with growth hormone from prepubertal age to
near adult-height age is not related to GH secretory status at GH therapy onset. Horm Res Pae-
diatr. 2013;79:145-56. doi: 10.1159/000348540. Epub 2013 Mar 28. PubMed PMID: 23548791.

• Wit JM, ranke Mb, albertsson-Wikland k, carrascosa a, rosenFeld rG, Van buuren s, kristroM b,

schoenau e, audi l, hokken-koeleGa ac, banG P, JunG h, bluM WF, silVerMan la, cohen P, cianFarani
s, deal c, clayton Pe, de GraaFF l, dahlGren J, kleintJens J, roelants M. Personalized approach á
to growth hormone treatment: clinical use of growth prediction models. Horm Res Paediatr.

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MAIN ACHIEVEMENTS
Highlights
• Update the skeletal growth charts for premature and term infants and normal children

to final height in the Spanish population. Obtain the different growth charts for the 5
sex-specific growth spurt onset groups in the normal population. Design and distribute

a free-use programme for anthropometric evaluation (AuxoLog®: http://www.estudi-
osdecrecimiento.es). Collaboration with other paediatric endocrinology groups in Spain.

• Characterise the molecular basis of chronic harmonic growth retardation in a paediatric

population (to date: GH1, GHRH, GHRHR, GHR, IGF1R). Collaboration with other national
and international paediatric endocrinology groups.

• Analyse the relevance of clinical, biochemical and molecular diagnostic criteria to the

classification of children with harmonic growth retardation and their reponse to GH ther-
apy at the end of the 1st and 2nd years, at age of onset of the pubertal growth spurt and

at final height. Collaboration with the Advisory Board of Catalan Government.

• Characterise the molecular basis for early-onset adrenal insufficiency in children through
candidate gene sequencing (to date: MC2R, MRAP, StAR, CYP11A1). Collaboration with

one international paediatric endocrinology group.

• Characterise the molecular basis for 46,XY DSD (to date: NR5A1, MAMLD1, LHCGR, StAR,
CYP11A1, CYP17A1, HSD17B3, SRD5A2, AR). Collaboration with national and interna-
13
tional paediatric endocrinology groups.
20
T
FUNDING
OR
• Catalan Government funding: Consolidated Group of the Catalan Research Agency P
RE
(2009SGR31).
L
A
• BMBS COST Action BM1303 - A systematic Elucidation of Differences of Sex Develop- NU
ment (DSDnet). MoU 003/13. CSO Approval 16/05/2013. Start of Action 07/11/2013. N
A
End of Action 06/11/2017.
R /
E
• Pharmaceutical industry funding:
ER
B
Ipsen: Increlex® (IGF-1) therapy database (NextOne Project) / Lilly: SHOX gene anal- CI
ysis / Pfizer: international collaborative pharmacogenetic study on responsiveness to

GH therapy anthropometric growth studies obesity programme
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