ESPE Abstracts

Background: Individuals with the ultra-rare genetic disorder FOP experience progressive heterotopic ossification. Median age at diagnosis is 5 years; patients are supported by multiple specialties. Most patients become immobilised by the third decade of life, requiring lifelong assistance. We characterise AADA use as an indicator of disease severity in younger individuals with FOP enrolled in a 36-month, prospective, global NHS (NCT02322255).<p class="abst...

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by progressive heterotopic ossification. The median age at diagnosis is 5 years and patients are supported by multiple specialties. We describe normal long bone growth changes and incidence of bone abnormalities in participants with FOP aged <18 years in a 3-year, prospective, global NHS (NCT02322255).Methods: Individuals with FOP age...

Introduction: Growth hormone (GH) treatment is used to accelerate growth in patients with Turner syndrome (TS). During treatment, evaluation of IGF-1 is strongly recommended for efficacy and safety. Some patients, despite optimum GH doses, have persistent high IGF-1 levels. In this study, we aimed to evaluate the relationship between IGF-1 levels, IGF1R and growth responses of TS patients on GH treatment.Method: 54 patie...

Introduction: The frequency of solid and hematological malignancies has been reported to be higher in children with Turner syndrome than in the general population. Mycosis fungoides (MF) represent the most common type of cutaneous T-cell lymphoma, which is a low-grade lymphoproliferative disease. To the best of our knowledge, the coexistence of Turner syndrome and MF has not yet been reported. Here, we report a girl with Turner syndrome and MF.<p class="ab...

Introduction: Congenital Adrenal Hyperplasia (CAH) is a chronic disease that requires life-long hormonal replacement therapy. Growth of patients with CAH can be affected by this therapy or the hyperandrogenic effect of the disease. In this study, we aimed to assess the potential effect of CAH and its therapy on final height in Saudi affected patients.Methodology: This is a retrospective cohort study from two tertiary end...

The synthesis of many peptides involves several post-translational steps which converts precursors into bioactive peptide. One of these steps results in the α-amidation of the C-terminal from a glycine through a bifunctional enzyme called the peptidylglycine α-amidating monooxygenase (PAM). Although the physiological role of Kisspeptin (KP) in the control of GnRH secretion is well known, the exact molecular form of the bioactive hypothalamic KP remains elusive. By ...

Introduction/Background: Non-invasive prenatal testing (NIPT) represents a major development for families affected by rare monogenic conditions by facilitating early prenatal diagnosis without the risks associated with traditional more invasive methods. For most rare diseases NIPT is only available clinically for paternally-inherited variants. One exception is in GCK and HNF4A diabetes, where the detection of a maternally or paternally inheri...

Background: Familial Mediterranean Fever (FMF) is the most common hereditary periodic fever syndrome in Turkey. The effects of FMF on growth and puberty characteristics have yet to be investigated. This study aims to describe the features of children with FMF in terms of growth and puberty and compare them with healthy children.Methods: This retrospective study analyzed the clinical and laboratory records of 140 FMF-diag...

Background: Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive genetic disorder with variable clinical manifestations mainly affecting the endocrine and nervous systems. Diabetes mellitus is one endocrine manifestation but there are no comprehensive data on the epidemiology, clinical features, underlying mechanisms, and management, particularly within the Qatari population.Methods: This retrospective study wa...

Background: In early-onset obesity, metabolic and cardiovascular problems like insulin resistance, hypertension, dyslipidemia, and metabolic syndrome start early in life. Our study aimed to investigate the relationship between metabolic and microvascular abnormalities in children with early-onset severe obesity using a non-invasive method, nailfold video capillaroscopy (NVC).Methods: In this cross-sectional study, 27 pat...