ESPE Abstracts

Introduction: Diet plays a key role in the management of type 1 diabetes (T1D), thus nutritional education is a cornerstone in T1D therapy. The integration of nutrition knowledge into nutritional behavior may help parents inculcate a healthy lifestyle to their children. However, parents' diet and its potential impact on metabolic control of the disease of their children have been scarcely analyzed. This study was aimed to examine whether parents' foo...

Introduction: Short stature is frequently caused by SHOX variants causing functional deficiency. SHOX resides in the pseudoautosomal region (PAR1) of the sex chromosomes and SHOX/enhancer alterations result in a broad phenotypic range: from Langer mesomelic dysplasia, Léri-Weill dyschondrosteosis to idiopathic short stature (ISS). Growth hormone (GH) therapy is indicated for those individuals with short stature due to SHOXdeficiency. A frequent limitati...

Introduction: Short stature is a frequent reason for consultation in the paediatric age group. After appropriate clinical, radiological and laboratory evaluation, up to 60-80% of children are classified as idiopathic short stature (ISS) because no underlying cause can be found. Nowadays, the spreading of molecular is revealing that many of the patients initially classified as TBI, have variants in genes involved in the growth plate development. IHH gene is inv...

Background: An activation cascade of specific genes sets up the initiation of sex determination leading in males to testes formation and synthesis of testicular hormones. Disruption of this gene cascade may cause a spectrum of disorders/differences of sex development (DSD) phenotypes. Here we describe for the first time two sisters suffering from 46,XY DSD, who by whole exome sequencing were shown to carry a mutation in the X-linked StAR-related lipid transfer...

Introduction: A transgender individual’s voice may contribute to the negative psychosocial outcomes. Some studies have shown that an incongruence between one’s voice and internal gender identity can be a potential source of ongoing psychological distress and could impact on their social interactions, employment outcomes, and invite verbal or physical harassment. This study was aimed to examine whether early puberal blockage (PB) impacts on self per...

Background-Aim: Gene rearrangements between CYP21A2, TNXB and their homologous pseudogenes (CYP21A1P,TNXA) result in chimeric genes, responsible for the CAHX syndrome. CAHX patients show CAH and Ehlers-Danlos syndrome (EDS) symptoms. Three CAHX chimeras with different clinical severity are described: CH1 (including 120bp deletion in exon 35), CH2 and CH3. The small size and few series reported so far warrant further studies ...

Background-Aim: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in the steroidogenic pathway of the adrenal cortex. In their most severe forms, they produce adrenal insufficiency and virilization of external genitalia when involving the terminal enzymes of the cortisol and aldosterone synthesis pathway (21-hydroxylase (21-OHD, OMIM#201910) and 11-hydroxylase (11-OHD, OMIM#202010) deficiencies). Mutations of <e...

Introduction: Bone fragility or predisposition to fractures with low-impact energy is a rare but potentially limiting condition. Variations in PLS3 gene are a cause of monogenic osteoporosis due to the alteration of osteoclast and osteocyte function and bone mineralization. It is characterized by early-onset osteoporosis, peripheral fractures, vertebral compression fractures and thoracic kyphosis. Due to its X-linked inheritance, the phenotype is more severe i...