ESPE Abstracts

Background: SHORT syndrome is an autosomal dominant genetic multisystem disorder determined by PIK3R1 gene mutations, which normally plays a role in cell signalling. SHORT is an acronym for short stature, hyperextensibility of joints and/or hernia, ocular depression, Rieger anomaly and teething delay. It is a rare condition; its prevalence is unknown with only few affected individuals and families reported worldwide.Case report: We report a case of 4 yea...

Background: Adrenoleukodystrophy (ALD) is an X-linked disease characterized by impaired β-oxidation of very long-chain fatty acids (VLCFA) and in the most severe cases by inflammatory demyelination in the brain, adrenocortical insufficiency (AI), and death. Seven phenotypes were described, with a higher prevalence of the cerebral forms.Case report: We report two cases of ALD with different evolution, in February 2014. First case, an 11 years old boy...

Background: Turner syndrome is the most common sex chromosome disorder in females and occurs in about 1/2500 newborn girls worldwide. On chromosomal analysis, the various karyotypes observed are: 45,X (50%); 45,X/46,XX (20%); 46,X, i(Xq) (15%); 46,X, r(X) or 46,X, del(X) (10%); and others (5%).Objective and hypotheses: We present the case of a 17-year-old girl referred to our service for primary amenorrhea. Clinical examination: height=163 cm (62nd perce...

Background: There are many aspects of the child thyrotoxicosis similar as in adult but there are also particular characteristics. Thyrotoxicosis is rare in childhood and in majority is about Grave’s Disease.Study Group: 61 patients with ages between 9 and 19 years that were admitted for hyperthyroidism in our department for 19 years. The diagnosis was sustained by clinical signs, hormonal profile, and ultrasound and scintigraphy exam.<p class="a...

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterised by impaired cortisol synthesis. An enzymatic defect in 11-beta-hydroxylase is the second most common variant of CAH and accounts for approximately 5–8% of cases. Patients present with features of androgen excess and approximately two thirds of patients also have high blood pressure (HBP), which is initially responsive to glucocorticoid replacement, but may become a c...

Background: Skeletal dysplasias are a heterogeneous group of more than 200 disorders characterised by abnormalities of cartilage and bone growth, resulting in abnormal shape and size of the skeleton.Case presentation: We present two children (brother 7 years and sister 11 years), investigated for growth retardation, part of five children brotherhood from apparently healthy non-consanguineous couple (mother’s height=158 cm and father’s height=16...

Background: Mucolipidoses II/III (ML) are rare autosomal recessive lysosomal storage disorders (incidence: 1/325 000 live births). They have overlapping clinical phenotypes with mucopolysaccharidosis disorders and include growth retardation, facial dysmorphism, skeletal abnormalities, respiratory and heart diseases, hepatosplenomegaly and abdominal hernias. There is no specific treatment and the management has been limited to supportive care.Case present...

Introduction: Distal chromosome 15 duplication is a very rare genetic disease, first described in 1974 by Fujimoto et al. The symptoms and physical findings include prenatal and/or postnatal growth retardation, mental retardation, poor speaking abilities, asymmetrical dysmorphic facial features, malformations of the fingers and/or toes and sometimes heart conditions.Case report: We report a case of a 2 years 5 months old girl, born with SGA (uterine grow...

Introduction: Prader-Willi syndrome (PWS) is a rare paternally inherited genetic disorder caused by alteration of chromosome 15q11-q13. Associated hypothalamic impairment leads to hyperphagia which therefore increases the risk for morbid obesity, dyslipidaemia, insulin resistance and arterial hypertension and in the end increases mortality. Patients with PWS benefit of recombinant growth hormone (rGH) treatment despite the GH reservoir to improve their impaire...

Introduction and Aims: Autosomal dominant hypocalcemia or type V Bartter syndrome is characterized by hypocalcemia, low parathyroid hormone (PTH), and calciuria, which marks its prognosis due to the risk of nephrocalcinosis. It is caused by activating mutations in the calcium-sensing receptor (CASR) gene (3q21.1), which is expressed in the parathyroid and renal tubules, causing salt and potassium loss, due to the inhibition of the ROMK and NKCC2 channels. We s...