ESPE Abstracts

GR and GT are diamniotic monochorial preterm twins (32 GA), both AGA (GR: W -1 SDS, L -1.5 SDS; GT: W and L 0 SDS), with normal karyotype and array-CGH on amniotic fluid, with no major complications associated to prematurity. At birth GT presented bilaterally cryptorchidism associated with micropenis, GR presented normal male genitalia. In the first year of life a severe growth deceleration in length (from -3SDS to -5 SDS) was observed, mainly after six months of life in both ...

Background: Pancreatic epithelial cells represent an attractive cell source for replacement therapy of type 1 diabetes. Previously, we designed a protocol for expansion of human pancreatic duct-derived cells (HDDCs) and showed their β-cell engineering potential.Objective and hypotheses: In this study, we reprogrammed HDDCs into β-cell-like lineage by over-expressing mRNAs of key pancreatic transcription factors (TFs).Meth...

Background: The persistent Müllerian duct syndrome (PMDS) is a rare 46-XY disorder of sex development, characterized by the persistence of Müllerian derivatives (uterus, Fallopian tubes) in otherwise normally virilised males. The condition is transmitted as a recessive autosomal trait and is caused in most cases by a defect in either the anti-Müllerian hormone (AMH) or the AMH type-II receptor (AMHR-II) genes.Case report: We present a 9 ye...

Background: Hoffmann syndrome is a specific and rare form of hypothyroid myopathy in adults characterized by presence of muscle stiffness, proximal weakness and pseudohypertrophy. When this occurs in a cretin child it is known as Kocher–Debré–Sémélaigne syndrome. Patients with more severe or longstanding untreated hypothyroidism are more likely to develop clinically significant muscle disease. Serum muscle enzyme levels as CK, myoglobin and lactate deh...

Background: Short stature is defined as a height more than two standard deviations below the mean for age and sex. Pathologic causes of short stature include growth hormone deficiency, hypothyroidism, celiac disease, inflammatory bowel disease or other chronic diseases, hormonal abnormalities, and genetic disorders, such as Turner syndrome. Moreover, among other variants of short stature, scholarship also described familial short stature, constitutional delay ...

Introduction: Short stature is defined as stature less than −2 standars deviations (SD) for a person’s age and sex of the reference population. Short for gestational age children (SGA) represent 20% of all children with short stature. 10% of these can not catch-up and remains their height below −2 SD. Growth hormone (GH) treatment is a recognized therapy for SGA children authorized in Europe at 4 years old. There are studies that support that younger children ...

Introduction: Adrenoleukodystrophy (ALD) is a genetic diseases classified in the group of peroxisomal disorders caused by mutations in ABCD1, a gene located on the X chromosome. It is the most common monogenetically inherited neurodegenerative diseases. X-ALD is an inborn error of metabolism characterized by impaired peroxisomal beta-oxidation of very long-chain fatty acids (VLCFA) with a heterogeneous clinical spectrum. VLCFA accumulate principally in the CNS...

Background: ‘Thelarche variant’ (TV), also known as ‘unsustained/slowly progressive puberty’ or ‘exaggerated thelarche’, is a term used to describe girls with premature thelarche and intermediate features between isolated premature thelarche (PT) and central precocious puberty (CPP). Despite being characterized by a FSH predominant response and by a peak LH response <5 IU/L to GnRH test, a univocal definition is lacking.<...

Background: Severe congenital growth hormone deficiency (cGHD) is a rare but potentially life-threatening condition. Even though random growth hormone (GH) can confirm cGHD during the first week of life, the diagnosis remains extremely challenging in the absence of reliable reference values in healthy neonates and thus of a best diagnostic cut-off.Aims: First, to provide solid reference values for GH concentrations in te...

Background: The short stature homeobox-containing (SHOX) gene, located in the telomeric pseudoautosomal region 1 (PAR1) on the short arm of both sex chromosomes, is important for linear growth.Objective and hypotheses: The aim of our study was to evaluate the presence of SHOX gene deletions/point mutations in children with short stature in order to understand the role of SHOX gene in idiopathic short stature (ISS) and estimate its frequency.<p class=...