ESPE Abstracts

Background: X-linked hypophosphatemia (XLH) are rare, inheritable disorders caused by excessive renal phosphate wasting manifesting as rickets in children and osteomalacia in adults. While conventional medical treatment with oral phosphate and alfacalcidol is recommended in childhood, where it heals rickets and rescues some of the growth potential prior to fusion of the growth plates, it is controversial whether adults should continue therapy. There is little evidence for the ...

Background: X-linked hypophosphatemia (XLH) are rare inheritable disorders caused by excessive renal phosphate wasting manifesting as rickets in children and osteomalacia in adults. Osteoid accumulates due to the reduced mineralization rate. Based on previous histomorphometric bone biopsy studies it the impression that XLH is a low bone turnover disease. Very little is known about the level of bone markers in XLH and the effects of conventional medical treatment with oral phos...

Background: Hypophosphatemic rickets (HR) are rare, inheritable disorders caused by excessive renal phosphate wasting. Despite a generalized mineralization defect, patients with HR are reported with a lower risk of fracture.Objective and hypotheses: The aim of this study was to evaluate the effect of bone -geometry, -microarchitecture and volumetric BMD (vBMD) on the estimated bone strength in adult patients with HR using high-resolution peripheral quant...

Background: Hereditary hypophosphatemia (HH) are rare diseases, characterized by excessive renal phosphate wasting.Aim: The study aims to describe the burden of disease across age groups in individuals with HH.Methods: The case population was identified in the Danish National Patient Register (DNPR) from 1977 to 2019 based on relevant diagnosis codes. A journal audit was performed ...

Background: Animal studies suggest a role of vitamin D in fetal lung development although not studied in preterm animals.Objective and hypotheses: We tested the hypothesis that vitamin D depletion does not aggravate respiratory insufficiency in preterm rat offspring. Furthermore, the effects of vitamin D depletion on growth and lung surfactant were investigated.Method: Female Sprague-Dawley rats were randomly assigned low vitamin D...

Background: Alterations in the timing or expression level of players involved in sex determination and differentiation can cause disorders of sex development, gonadal dysgenesis and germ cell neoplasms later in life. The mitosis–meiosis switch is one of the first manifestations of female sex differentiation and we hypothesise that a conflict between meiosis-inhibiting (male pathway) and meiosis-inducing signals (female pathway) is one of the possible mechanisms for disrup...

Background: Vitamin D deficiency in children clinically manifests as rickets causing growth impairment and bowing of the long bones, potentially increasing the ratio between crown-rump length and length (CRL:L) or sitting height and height (SH:H).Objective and hypotheses: We investigated whether CRL:L in 19-months-olds and SH:H in 36-months-olds were lower with higher cord 25hydroxyvitamin D (25OHD).Method: Participants were includ...

Introduction: X-linked hypophosphatemia (XLH) is a rare, inherited disease that affects approximately 1 in 20,000 individuals. XLH is a disorder of renal phosphate wasting caused by high circulating levels of fibroblast growth factor 23 (FGF23) that impairs normal phosphate reabsorption in the kidney and production of the active form of vitamin D. Children with XLH experience abnormal bone development, rickets, osteomalacia, impaired growth, dental abscesses, craniosynostosis ...

Introduction: Noonan syndrome-like disorder with loose anagen hair (NSLH1), also known as Mazzanti syndrome (OMIM#607721) is a RASopathy due to missense mutation (c.4A>G, p.Ser2Gly) in SHOCK2 gene. The NSHL1 is characterized by Noonan syndrome-like facial dysmorphisms, easily pluckable, slow growing, sparse and thin hair, growth retardation, variable neurocognitive impairment and cardiac anomalies.Aim: To present an a...

Introduction: Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder defined by craniofacial, ectodermal and skeletal involvement.Materials and Methods: She is a girl aged 07 years, the second in a sibling of 4 from a non-consanguineous couple. Physiological antecedents, full term birth with a low birth weight of 02 Kg, artificial breastfeeding from birth, good pshycomotor development with a ...