ESPE Abstracts

Background: 3-M syndrome is an autosomal recessive primordial growth disorder characterized by severe prenatal and postnatal growth retardation, normal mental development, unusual facial features and skeletal abnormalities. Mutations in the CUL7, OBSL1 and CCDC8 genes are responsible for this syndrome. In literature a modest response to GH treatment in 3M children is reported without a significant improvement in the final height, suggesting a picture...

Background: Pubertal growth, age of puberty onset and pubertal spurt duration are correlated to final height (FH). Few data are available in subjects with rare genetic syndromes.Objective and hypotheses: To evaluate pubertal pattern and its influence on FH in subjects with different genetic syndromes including the effect of GH-therapy for GH deficiency (GHD) and GnRH analogs for precocious puberty (PP).Method: We studied for growth...

Objective and hypotheses: We analysed the prevalence of transient hypothyroidism in a cohort of children affected by CH with eutopic thyroid after Levothyroxine discontinuation.Method: 77 newborns (36 females, 41 males) affected by CH with eutopic thyroid from 1999 to 2011 were enrolled. The confirmation diagnosis of CH after screening was made within the first 15 days of life by assessing TSH value (mean 74.4±82.2 μU/ml n.v 0.5–4.2) and f...

Background: The ‘catch-up growth’ phenomenon in children born small for gestational age (SGA) has been linked to early onset obesity with the subsequent emergence of metabolic syndrome (MetS). The intima media thickness of the common carotid artery (CIMT) is a well-known marker of subclinical atherosclerosis.Objective and hypotheses: To determine the association between being born SGA and CIMT, a measure of atherogenesis and to investigate meta...

Background: Aortic dilation (AD) occurs in Turner syndrome (TS) increasing the risk of aortic dissection at all ages. There are no current guidelines on what specific aortic diameter measurement should provoke concern in pediatric TS. Because of their small stature, an aortic size index (ASI) has been proposed to normalize the ascending aorta (AA) to body size in young adults’ with TS. However, a more reliable index has been also proposed: the ratio of vascular diameter t...

Background: 17α-Hydroxylase/17,20-lyase deficiency is a rare form of congenital adrenal hyperplasia caused by mutations in CYP17A1, characterized by reduction of androgens, estrogens and cortisol production and mineralocorticoid excess.Objective and hypotheses: To describe the clinical and molecular characteristics of two sisters with 17α-hydroxylase/17, 20-lyase deficiency.Method: Two sisters, phenotypic females...

Background: Synchronous, multiple central nervous system (CNS) tumors are usually rare in pediatric patients. Pilocytic astrocytomas are the major type of CNS tumors in neurofibromatosis type 1 (NF1).Case presentation: A 6.5-year-old boy was admitted to our hospital for severe emaciation. Profound fat and muscle wasting were the only prominent clinical features. His growth rate was preserved despite his rapid dramatic weight loss (HT: 118 cm, P....

Background: The progress made in the treatment of childhood cancer has resulted in better long-term survival rates. Therefore sequelae of treatment have become more important.Objective and hypotheses: To investigate the prevalence of early endocrine disorders in survivors of a childhood tumour within the 1st years after diagnosis.Method: We performed a retrospective medical record review of survivors followed at the endocrine clini...

Background: Graves’ disease (GD) is the most common cause of hyperthyroidism in fertile woman and can cause fetal and neonatal hyper or hypothyroidism. It is associated with transplacental transfer of maternal thyrotropin receptor antibodies (TRAb).Objective and hypotheses: The main objective of this study was to characterize the neonates born to women with GD followed in a pediatric endocrinology reference unit.Method: A retr...

Introduction: Paediatric growth hormone deficiency (pGHD) is a rare disorder characterised by inadequate secretion of growth hormone (GH). Daily injections of somatropin, a recombinant human GH, is the standard of care. Once-weekly GH treatments have been recently developed, but no direct comparisons have been published. This study examined the clinical efficacy of the available once-weekly treatments vs. daily treatment for pGHD via a systematic literature re...