ESPE Abstracts

Introduction: Brachydactyly mental retardation syndrome (BDMR, #MIM600430) is a rare genetic disorder caused by deletions in 2q37 region, characterised by intellectual disability, facial features, and skeletal abnormalities. This case delineates the clinical progression and growth hormone (GH) therapy response of a patient with a unique phenotype resulting from an unbalanced derivative of a paternal balanced translocation, leading to a 2q37 deletion and 14q32 ...

Background: Cardiovascular complications are the leading cause of mortality and morbidity in patients with type 1 diabetes (T1D), and early assessment is crucial. Our study aimed to determine the impact of diabetes on vascular health by monitoring 24-hour ambulatory blood pressure (ABPM) and measuring arterial stiffness (AS) in children with T1D.Methods: Seventy-four consecutive children with T1D and 68 age and sex-match...

Introduction: Hypothalamus is an important regulator of sleep onset, sleep maintenance and wakefulness as well as appetite control. Thus, hypothalamic damage can lead to both sleep dysregulation and severe morbid obesity. So, sleep apnea may be more prevalent and severe in obesity due to hypothalamic damage in comparison to exogenous obesity.Aim: We aim to compare frequency and severity of obstructive sleep apnea (OSA) in children with hypothalamic and e...

McCune-Albright Syndrome is a rare genetic disorder characterized by triad of polyostotic fibrous dysplasia of bone, precocious puberty and café au lait skin pigmentation. It is resulted from an activating mutation in the GNAS gene encoding the alpha subunitof stimulatory G protein. Here we present two cases with McCune Albright syndrome presenting with different clinical findings.Case 1: A 7-year and 6 month-old girl presented with breast ...

Background: Follicle-stimulating hormone (FSH) plays a key role in reproduction. The G-protein coupled FSH receptor (FSHR), is expressed primarily in gonads, and specifically binds FSH. FSHR is also expressed in vascular endothelium, osteoclasts, adipose tissue, monocytes and rodent pancreatic islets. Elevated FSH levels are associated with development of obesity, insulin resistance, osteoporosis, and cardiovascular disease. In a recent study, we showed that h...

Background: Short stature and gonadal dysgenesis are the main characteristics in Turner syndrome (TS). There are conflicting reports about the body proportions in TS. Some studies described a proportionate short stature, whereas others reported disproportionately short legs. It is known that body proportions are genetically controlled and are different in different populations or ethnic groups.Objective and hypotheses: To evaluate body proportions assess...

Introduction: The most common extra-thyroidal manifestation of Graves' disease is ophthalmic involvement. Pediatric Graves' ophthalmopathy (GO) occurs in approximately one-third of cases with pediatric Graves' disease. However, the frequency of severe GO is quite rare compared to adults, and in this case series, two different GO cases, one severe and one unilateral/asymmetric, are presented.Case 1: A 14-ye...

Introduction: In children receiving growth hormone (GH) therapy during puberty, epiphyseal fusion due to sex steroids often limits the height gain. Aromatase inhibitors may seem to help at this point despite the lack of evidence. Herein, it was aimed to investigate the efficacy of anastrozole for add-on treatment in pubertal male patients receiving GH therapy.Methods: This is a retrospective study comparing two groups of...

Background: Hereditary hypophosphatemia (HH), is a rare condition related to decreased renal tubular phosphate reabsorption. Although X-linked hypophosphatemia (PHEX mutation) is the most frequent cause of HH, recent advances in the next-generation sequencing (NGS) techniques enable the identification of various genetic etiologies. Our study aims to determine the molecular etiology of patients with hypophosphatemia and to identify new candidate genes....

Background: Primary hypoparathyroidism (HP) is a rare disease characterized by hypocalcemia, hyperphosphatemia and low/inappropriately normal parathyroid hormone (PTH) levels. We aim to characterize the clinical findings and molecular aetiology of childhood HP in our cohort.Method: DiGeorge-VCFS FISH analysis was performed on all patients (n=28) as the initial step after the diagnosis. In whom, FISH analysis was...