ESPE Abstracts

Background: Gene SHOX haploinsufficiency due to deletions or mutations in heterozygosis causes a wide spectrum of phenotypes ranging from very severe disharmonic short stature (S. Léri-Weil, S. Turner) to very mild forms with the appearance of idiopathic short stature (IST) of difficult clinical recognition. Auxological study directed at evaluating body disproportions such as the sitting height/height (SH/H) ratio in patients with IST has been postulated as usefu...

Background: Hypochondroplasia is an osteochondrodysplasia inherited in an autosomal dominant pattern that results in a disproportionately short stature, characteristic facial features and skeletal alterations such as lordosis and genu valgum. Haploinsufficiency of the fibroblast growth factor receptor 3 gene (FGFR3) is responsible for 50–70% of the cases, but a negative result doesn’t rule it out.Case presentation: We report a...

Background: For early identification of patients requiring adherence support, objective, real-time adherence data are needed. The easypod™ electromechanical injection device, in combination with the easypod™ connect ecosystem, electronically records and transmits, in real time, accurate records of the date, time and dose injected for patients receiving recombinant human growth hormone (r-hGH) to treat growth disorders. Healthcare professionals can us...

Background: Monitoring adherence to growth hormone (GH) treatment is important, because poor adherence can lead to suboptimal clinical outcomes. The easypod™ electromechanical injection device in combination with the web-based easypod™ connect platform electronically records and transmits accurate, objective records of the date, time and dose injected of patients receiving GH with growth disorders, allowing physicians to accurately monitor patients&#...

The incidence of TIDM varies greatly between different countries and regions. In Navarre, located in the north of Spain, at the western end of the Pyrenees, there has been a clear increase in the incidence of TIDM, from 13,5 cases per 100000 in the decade 1990-2000 to 20,1 cases per 100000 between 2006-2011. We wonder if this upward trend has continued in recent years. Our hospital is a reference center for Pediatric Endocrinology in Navarre.Obje...

Background: Concerns about a child's growth are one of the most common topics parents express during pediatric visits and are a leading cause for referral to a pediatric endocrinologist. For the general pediatric, when short stature is diagnosed, its clinical management remains a challenge.Objective: The aim of the study was to approach and understand the perception from the general pediatrician about short stature,...

Background: Digital health solutions, such as the Growzen™ buddy smartphone application (app), can facilitate adherence to recombinant human growth hormone (r-hGH) treatment for patients with growth disorders. The app alerts patients when it’s time for an injection and allows patients and their caregivers to self-monitor growth, to build a routine and improve adherence. The app also contains educational resources to empower patients to be active in...

Introduction: Central precocious puberty (PPC) is defined by the appearance of sexual characters at a chronological age lower than -2.5DS of the average for the reference population. Diagnostic is clinical but the hormonal assessment is essential. Basal gonadotropin values are not enough for the diagnosis. Gonadotropin-releasing hormone (GnRH) stimulation tests evidence the activation of the hypothalamic-pituitary-gonadal axis, however there is controversy abo...

Background: Achondroplasia (ACH), the most common short-limbed skeletal dysplasia, is characterized by impaired endochondral ossification resulting from gain-of-function pathogenic variants in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone growth. People with ACH are at risk for several significant co-morbidities, including brainstem compression due to foramen magnum stenosis, sleep-disordered breathing, chronic...

Background: Persistent Müllerian Duct Syndrome (PMDS) needs to be considered in boys (46, XY) presenting with bilateral cryptorchidism or unilateral cryptorchidism associated with an inguinal hernia. Anti-Müllerian hormone (AMH) gene as well as Anti-Müllerian hormone Receptor (AMHR 2) gene mutations have been identified in PMDS boys.Aim and methods: To report a novel mutation in the AMHR 2 gene in monochorionic d...