ESPE Abstracts

Background: Childhood cancer survivors (CCS) are at increased risk of developing secondary malignant neoplasms (SMN). Radiotherapy is one of the main risk factors, and secondary thyroid cancers (STC) are likely to occur among irradiated CCS.Objective and hypotheses: To evaluate frequency, characteristics, and of STC in the cohort of CCS treated and in follow-up at the Istituto Giannina Gaslini.Method: Survivors treated between 1975...

Background: Pseudohypoparathyroidism type Ib (PHP-Ib) is due to a maternal loss of GNAS exon A/B methylation and leads to decreased expression of the stimulatory G protein (Gsα) in specific tissues. Evidence suggests an increased incidence of imprinting disorders in children conceived by Assisted Reproductive Technologies (ART). Nevertheless, no associations between ART and PHP – Ib have been found to date.Clinical case: 7.4-years-old male with...

Vanishing testis syndrome leads to hypergonadotropic hypogonadism. We report the case of a 28-years-old patient, who was diagnosed with bilateral cryptorchidism and phymosis at birth. At one, three and seven years-of-age orchidopexy was unsuccessfull to find testicular tissue. Meanwhile one cure of human chorionic gonadotropin (hCG) therapy was applied, without success. Endocrine investigation was continued just in 2011, at 24 years-of-age, when infantile external male genital...

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....