ESPE Abstracts

Background: Hypospadias is one of the most common congenital abnormalities in male. Nowadays, hypospadias surgical repair has become highly demanding and deeply investigated with more than 300 corrective procedures. Its success is assessed by the "reoperation rate" that occurs short after the surgery within a brief follow-up (6-12 months). However, short-term outcomes may not reflect the long-term ones, as hypospadias repair may influence adolescence a...

LHX3, a member of the LIM-homeodomain transcription factors family, regulates pituitary development in vertebrates and the maintenance of mature anterior pituitary cells. Nineteen mutations in LHX3 gene have been reported in HGMD database, in homozygous and compound heterozygous patients. The phenotype may present with pituitary dysfunction only or with syndromes involving also nervous and skeletal systems. The MRI images include aplasia or hypoplasia of pitui...

Turner syndrome (TS) patients are at risk for a constellation of neurocognitive and psychosocial diseases. TS is associated with an increased risk for difficulties with visual–spatial reasoning, visual–spatial memory, attention, executive functioning, motor, and math skills. Additionally, increased rates of social difficulties, anxiety, and depression are observed.Here we report the case of a 16-years-old Caucasian girl who came to our attentio...

KBG syndrome (OMIM 148050) is a an emerging autosomal dominant disorder caused by heterozygous mutations in the ANKRD11 gene or deletions of 16q24.3, characterized by developmental delay, short stature, dysmorphic facial features and skeletal anomalies. Patients and methods: We report 22 patients with dysmorphic features, learning disabilities, behavior problems and macrodontia, where a clinical diagnosis of KBG was suspected. An ANKRD11 defect was confirmed in 12 patients. In...

Background: Different formulations of gonadotropin-releasing hormone agonist (GnRHa) are available for the treatment of central precocious puberty (CPP). Currently there are few data on quarterly formulation depot (11.25 mg) during treatment.Aim: The purpose of this study is to analyse the effect of Triptorelin 11.25 mg 3-months depot in comparison with the monthly 3.75 mg formulation at the beginning and during the treatment of CPP.<p class="abstext...

Background: Central precocious puberty (CPP) may affect quality of life (QOL) due to premature body and psychological changes that characterize this pathology. Few data are available on health-related quality of life (HRQOL) and social, emotive and behavioral competences in CPP children treated with gonadotropin-releasing hormone agonists (GnRHa). This study aimed to investigate these aspects in a group of CPP girls during therapy.Methods: Fifty-four CPP...

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: Apparent mineralocorticoid excess (AME) is a rare congenital autosomal recessive disorder resulting from mutations in the HSD11B2 gene, which encodes the kidney isozyme of 11-β-hydroxysteroid dehydrogenase type 2, inactivating circulating cortisol to the less-active metabolite cortisone. Less than 100 cases of AME have been reported in the literature so far. Affected individuals have elevated renal concentrations of cortisol, which can cross-react and activate...

Background: GnRH analogs (GnRHa) have been used in treatment of idiopathic central precocious puberty (ICPP) for several decades. Their effectiveness on adult height (AH) improvement has been widely studied and is still debated.Objective and hypotheses: To assess whether BMI changes in ICPP girls during GnRHa treatment can influence AH.Method: A retrospective study of 131 ICPP girls (mean age at diagnosis: 7.6±0.7, range 4.3&#...

Background: Screening for congenital hypothyroidism (CH) with the possibility of an early treatment has transformed the outlook for children with CH. Despite the unquestioned public health success of newborn screening programs, the management of CH is still controversial. Most patients with positive screening have permanent hypothyroidism but some of them may have transient hyperthyreotropinemia, so it is important to identify these patients in order to avoid lifelong unnecess...