CEDIE   05498
CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
Terminal 15q26.1 deletion involving monosomy of the IGF receptor 1 (IGF1-R) in two boys with severe growth retardation and dysmorphic features.
Autor/es:
G.DEL REY; V. FIGUEROA; M. GUTIERREZ; I. FERNANDEZ; A. BOYWITT; R. DE BELLIS; O. BRUNETTO; R. COCO
Lugar:
Lima, Perú
Reunión:
Congreso; XX Annual Meeting of the Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP); 2008
Institución organizadora:
Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP)
Resumen:
Introduction:The IGF-1R(15q26.3) mediates IGFs.Distal 15q deletions encompassing IGF-1R gene are associated with intrauterine growth retardation,short stature,microcephaly and mental retardation. Methods:High resolution and FISH were performed to analyse del(15qter) on two patients with severe short stature.The effect of rhGH treatment  was evaluated in one of them. P1:9.6 y-old boy was referred.Height:115cm,-5SDS.Physical exam: microcephaly,frontal bossing,cryptorquidia,clinodactylia. Mental retardation. P2:5 month old boy with intrauterine and potsnatal growth retardationt. Weigh: 4750g,-3.46SDS;Heigh:53 cm,-5.56SDS;OFC:38.5 cm,<Pc3.At birthW:2500g,-1.8SDS;H:41cm,-5.3SDS.Al physical exam:triangular facies,low-set ears,small hands, clinodactyly,shorth toes.Cryptorquidia, hypoplastic kidneys.Developmental delay.IGF-1:59ng/ml,Pc50;IGFBP3:2.30mcg/dl,Pc50.At 11 months an arginine test was performed with a peak GH of 5.3ng/ml and rhGH  treatment was started.At 6 y showed SDS gain of H:96.4cm,-2.61SDS;IGF-1: 240 ng/dl,+2.0SDS; IGFBP3:3.88mc0g/dl,+2.0SDS.Family members showed short stature and RM. Results:P1´s karyotype showed mosaicism of ring 15 chromosome: 46,XY,r(15)(p11q26)/ 46,XY,dic r(15)(p11q26p11q26)/ 47,XY,r(15)(p11q26)x2. Paternal´s karyotypes were normal. P2´s k:46,XY,der(15)t(4;15)(q32;q26.1).His father had t(4;15) balanced. Conclusions:Deletion of distal 15q as well as ring 15 chromosome resulted in monosomy 15q26.1-qter with lost of one copy of IGF-1R and short stature.The rhGH was effective in improving SDS resulting in a better growth response and treatment was continued.