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ea0029p1297 | Paediatric endocrinology | ICEECE2012

Two novel IGF1R gene heterozygous mutations in two unrelated children with pre and postnatal growth retardation, and microcephaly

Guercio G. , Warman D. , Aziz M. , Riu C. , Aguiar M. , Juanes M. , Marino R. , Ciaccio M. , Berensztein E. , Chaler E. , Rivarola M. , Belgorosky A.

Several IGF1R gene mutations have been described as a cause of growth retardation due to IGF1 insensitivity. The IGF1R gene was analyzed in two children suspected to have IGF1 insensitivity. Both were born small for gestational age (SGA) and showed no postnatal catch-up growth. Both patients presented microcephaly and developmental delay. A boy (P1) was born at 37 weeks, birth weight was 1900 g (−2.98 SDS) and body length 42 cm (−4.7 SDS). At 18 months chronologica...

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ea0049gp178 | Pituitary | ECE2017

Sleep patterns in patients with non-functional GHRH receptor

Oliveira Francielle T , Salvatori Roberto , Marcondes Jose , Macena Larissa B , Oliveira-Santos Alecia A , Faro Augusto C N , Campos Viviane C , Oliveira Carla R P , Costa Ursula M M , Aguiar-Oliveira Manuel H

Hypothalamic GH releasing hormone (GHRH) has hypnotic actions by increasing slow wave sleep (SWS) (non-rapid eye movement sleep, non-REM), which account for about 75% of sleep. Conversely, GH may stimulate the rapid eye movement sleep (REM). Patients with GH deficiency (GHD) often exhibit sleep problems leading to daytime fatigue and reduced quality of life (QoL). We have described a cohort of patients with isolated GHD (IGHD) due to GHRH resistance caused by a homozygous null...

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Endocrine Abstracts

Two novel IGF1R gene heterozygous mutations in two unrelated children with pre and postnatal growth retardation, and microcephaly

Sleep patterns in patients with non-functional GHRH receptor

BiosciAbstracts