ESPE Abstracts

Background: Limited research exists on how having a child with achondroplasia impacts parents' daily lives and well-being. The purpose of the study was to gather qualitative evidence to support the development of a parent experience measure that assess the impacts of having a child aged 2 to <12 years with achondroplasia.Methods: Concept elicitation interviews via individual telephone calls and an in-person focus...

Introduction: Turner's syndrome (TS) is associated with several manifestations the most frequent being short stature and hypogonadism. Some authors (Nadeem, 2012; Bakalov, 2008) reported that individuals with TS have increased risk of fractures, but the etiology and mechanism of bone fragility have not been yet fully elucidated and may be exacerbated by hormonal factors (Cintron, 2017; Soucek, 2015). Bone densitometry (BD) through the emission of double en...

Introduction: Very short stature is a common presenting complain that gives rise to numerous investigations. FBN1 heterozygous mutations cause acromelic dysplasia syndromes. The phenotypic spectrum of these growth disorders is broad, ranging from short stature with short extremities, stiff joints, skin thickening with tracheal stenosis and cardiac valvulopathy to nearly isolated short stature. Here, we report on a girl with disproportionate short stat...

Background: The benefit of recombinant human growth hormone (rhGH) in improving height is widely recognised; however, rhGH therapy can affect carbohydrate metabolism and lead to impaired glucose tolerance during treatment. In addition, short children born SGA are predisposed to metabolic abnormalities. This study assessed the long-term safety of growth hormone (Omnitrope®) use in short children born SGA for up to 10 years after the end of treat...

Background: Based on growth screening rules, severe short stature (i.e. height SDS less than -3), at the age of more than 3 years, warrants diagnostic evaluation in specialized health care. In the absence of apparent underlying cause, targeted and eventually untargeted genetic studies have been proposed. However, the etiology of short stature at the severe end of the spectrum is poorly characterized.Methods: We ...

Background: The incidence of ES in children varies greatly depending on the population surveyed, ranging from 1.2%-9% to 68% (children without and with known endocrinopathies, respectively). MRI is the main diagnostic tool for screening pituitary and in a previous KIGS study, 3.0% of patients with GHD were identified with ES and 7.8% with pituitary hypoplasia (Maghnie et al, EJE (2013).Aim: T...

Objective: This study was to measure quality of life (QOL) of the primary caregivers for young children with Prader-Willi syndrome (PWS).Methods: The children with PWS consisted of 32 children. The QOL of the caregiver for each patient was assessed using the Chinese version of the WHOQOL-BREF, and the Infants-Junior Middle School Students' Social-Life Abilities Scale was used to evaluate the social adaption capacity ...

Objective: Glioblastoma 2 (encoded by GLI 2 gene), is an activating zinc-finger transcription factor, involved in the Sonic Hedgehog pathway and embryogenesis of diencephalon and distal extremities Heterozygous mutations of GLI2 gene cause a wide range of clinical phenotype known as holoprosencephaly and holoprosencephaly-like syndrome, pituitary insufficiency, mid-facial hypoplasia, and polydactyly. We, herein, report a novel heterozygous IV...

Background: Pseudoisodicentric X chromosomes with an Xq deletion (46,X,idic(Xq)) are rare. Most cases are mosaic, the other cell line being 45,X. Nonmosaicism is rare. Phenotype is characterized by the resultant of the X deletion. Variations from short to tall stature can occur and premature ovarian failure is a common feature.Case presentation: A 16 year old girl was referred to our clinic with primary amenorrhoea. She ...

A 5-year old boy was referred to our clinic for short stature reported since first years of life. At birth weight and length were normal, psychomotor development was regular, target height was 165.9 cm. At 7 months of life he was subjected to correction of cleft lip-palate. Since 3 years of life he suffered from headache, for which a fundoscopy was performed and revealed a Morning Glory Disc Anomaly (MGDA) of the right eye. At our first visit height was 98.2 cm (-2.5DS), body ...

Background: Turner syndrome (TS) is a common genetic disorder with an incidence of 1 in 2500 live births due to chromosomal errors resulting in monosomy for the X chromosome with or without mosaicism. Familial TS has been rarely reported. We report two families having TS.Methods: We report 6 patients with TS who had been referred to the Endocrinology department and Pediatric department at Hedi Chaker hospital, Sfax, Tuni...

Purpose: Patients with growth hormone deficiency (GHD) show low fitness levels before GH treatment is started. Muscular strength, flexibility and postural stability are related to health and quality of life. Since it is widely recognized that physical activity increases GH secretion and GH could ameliorate fitness, if a high adherence to treatment is documented (1), the purpose of this study is to investigate any difference on posturographic parameters and mus...

Introduction: The success of rhGH therapy is thought to be dependent on the patient's ability to maximally adhere to their treatment regimen.Aim: To compare the reported (subjective) compliance as it was documented via a questionnaire fulfilled by the parents and/or patients, with actual (objective) compliance as recorded by a delivery device, to rhGH therapy.Material and Methods</stron...