hrp0086p1-p111 | Bone & Mineral Metabolism P1 | ESPE2016

Impact of Conventional Medical Treatment on Bone Mineral Density and Bone Turnover in Adult XLH Patients: A 6 Year Cohort Study

Shanbhogue Vikram Vinod , Beck-Nielsen Signe Sparre

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 ...

hrp0089rfc11.3 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Increased Levels of Bone Formation and Resorption Markers in Patients with Hypophosphatemic Rickets

Hansen Stinus , Shanbhogue Vikram Vinod , Jorgensen Niklas Rye , Beck-Nielsen Signe Sparre

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...

hrp0082p1-d3-51 | Bone (1) | ESPE2014

Bone Geometry, Volumetric Density, Microarchitecture and Estimated Bone Strength Assessed by HR-pQCT in Adult Patients with Hypophosphatemic Rickets

Shanbhogue Vikram v. , Hansen Stinus , Folkestad Lars , Brixen Kim , Beck-Nielsen Signe Sparre

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...

hrp0086rfc10.3 | Perinatal Endocrinology | ESPE2016

Vitamin D Depletion in Pregnancy Decreases Survival Time, Oxygen Saturation, Lung Weight and Body Weight in Preterm Rat Offspring

Lykkedegn Sine , Sorensen Grith Lykke , Beck-Nielsen Signe Sparre , Pilecki Bartosz , Duelund Lars , Marcussen Niels , Christesen Henrik Thybo

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...

hrp0082p1-d3-93 | Sex Development | ESPE2014

Ex vivo Culture of Human Fetal Gonads: Manipulation of Meiosis Regulation Affects Testis Development

Jorgensen Anne , Nielsen John E , Perlman Signe , Lundvall Lene , Juul Anders , Rajpert-De Meyts Ewa

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...

hrp0086rfc2.2 | Bone & Mineral Metabolism | ESPE2016

Duration of Exclusive Breastfeeding: ‘Game Changer’ in a Sex-Specific Association Between Cord Vitamin D Status and Infant Linear Growth

Christensen Anna Mathilde Egelund , Beck-Nielsen Signe , Dalgard Christine , Larsen Sos Dragsbaek , Lykkedegn Sine , Christesen Henrik Thybo

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...

hrp0089p2-p040 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

X-linked Hypophosphatemia Registry – An International Prospective Patient Registry

Padidela Raja , Nilsson Ola , Linglart Agnes , Makitie Outi , Beck-Nielsen Signe , Ariceta Gema , Schnabel Dirk , Brandi Maria Luisa , Boot Annemieke , Jandhyala Ravi , Moeller Gerd , Levtchenko Elena , Mughal Zulf

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 ...

hrp0092p1-225 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

The Phenotypic Spectrum of Kabuki Syndrome in Patients of Chinese Descent

Wang Yirou , Li Niu , Su Zhe , Xu Yufei , Liu Shijian , Chen Yao , Li Xin , Shen Yiping , Wang Jian , Wang Xiumin , Bodamer Olaf

Background: Kabuki syndrome (KS) is a rare dominant disorder of transcriptional regulation with a complex phenotype including cranio-facial dysmorphism, intellectual disability, developmental delay, hypotonia, failure to thrive, short stature and variable cardiac and renal anomalies. Mutations in either KMT2D or KDM6A cause KS. While the phenotype of KS has been reported in many ethnicities, little is known about the phenotypic spectrum of KS...

hrp0086p2-p668 | Growth P2 | ESPE2016

A Rare Cause of Growth Delay: Jacobsen Syndrome

Constantinescu Georgiana , Belceanu Alina , Bursuc Anamaria , Armasu Ioana , Braha Elena , Rusu Cristina , Mogos Voichita , Vulpoi Carmen

Background: Jacobsen syndrome is a rare genetic condition caused by partial deletion of the long arm of chromosome 11 associated with delayed development, distinctive facial features, bleeding disorder, skeletal abnormalities and endocrine disorders.Case report: We report a rare case of Jacobsen syndrome in 4 year old boy addressed for short stature. Born at term (36 W) with low birth weight (1780 g) and delayed development, his height at presentation wa...

hrp0086p2-p680 | Growth P2 | ESPE2016

A Case of Growth Hormone Deficiency with Combined Encephalocraniocutaneous Lipomatosis and Jaffe–Campanacci Syndrome

Choi Eun Mi , Shim Ye Jee , Kim Jun Sik , Kim Heung Sik

Introduction: Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by unilateral lipomatosis and ipsilateral neurologic/ophthalmic malformation. Jaffe–Campanacci syndrome (JCS) is characterized by the association of café-au-lait spots, axillary freckles, multiple non-ossifying fibromas of the long bones and jaw. Both of ECCL and JCS was associated neurofibromatatosis type 1. We had a case of GH deficiency with combined ECCL and ...