hrp0082p2-d1-420 | Growth Hormone | ESPE2014

S.c. Injections of a Reversible Albumin-Binding GH Derivative (NNC0195-0092) in Adult Subjects with GH Deficiency is Well Tolerated

Rasmussen Michael Hojby , Janukonyte Jurgita , Klose Marianne , Marina Djordje , Tanvig Mette , Nielsen Lene , Hoybye Charlotte , Andersen Marianne , Feldt-Rasmussen Ulla , Christiansen Jens

Background: Recombinant human GH (rhGH) is normally administered as a daily s.c. injection. NNC0195-0092 is a reversible albumin-binding GH derivative developed with the aim of reducing clearance and thereby extending the exposure. It has previously been demonstrated that NNC0195-0092 is well tolerated in healthy subjects with the potential for once weekly administration.Objective and hypotheses: In this trial NNC0195-0092 was administrated subcutaneousl...

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...

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 ...

hrp0092p2-215 | Multisystem Endocrine Disorders | ESPE2019

Intestinal Ganglioneuromatosis as First Manifestation of Multiple Endocrine Neoplasia 2B in a Premature Girl

Leunbach Tina Lund , Madsen Mette , Nielsen Rasmus G , Hansen Dorthe , Mathiesen Jes S

Introduction: Multiple endocrine neoplasia 2B (MEN2B) is a rare cancer syndrome primarily caused by the M918T (95%) and A883F (<5%) germline mutations in the REarranged during Transfection (RET) proto-oncogene. Aggressive and early onset thyroid medullary carcinoma is the hallmark of the disease. Cure rates in M918T carriers who had thyroidectomy before and after 1 year of age were 83% and 15% respectively. More t...

hrp0092p3-29 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Extreme Hypercalcaemia: Watch for Glycogen Storage Disease Type 1a with Hyperinsulinism

christesen henrik , Nielsen Rasmus G , Lund Allan M , Cananguez Arlen A , Schou Anders J

Background: Hypercalcaemia in infants may reach extreme levels due to hyperparathyroidism, subcutaneous fat necrosis, or vitamin D intoxication. Normal values for p-parathyroid hormone and p-calcitriol prompt search for other causes.Methods: Hospital file evaluation, case report.Results: A 5½-months-old Caucasian girl of non-consanguineous healthy parents was referred due to w...

hrp0089rfc11.3 | Bone, Growth Plate &amp; 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...

hrp0082p2-d3-403 | Fat Metabolism &amp; Obesity (2) | ESPE2014

Concomitant Changes in Full Body DXA Values and BMI–SDS During Multidisciplinary Treatment of Childhood Obesity

Nielsen Tenna R H , Fonvig Cilius E , Gerds Thomas A , Lausten-Thomsen Ulrik , Holm Jens-Christian

Background: Childhood obesity and related co-morbidities are increasing world wide and consequently effective treatment interventions are much needed.Objective and hypotheses: The aim was to investigate concomitant changes in body composition in relation to changes in BMI–SDS during The Children’s Obesity Clinics Treatment (TCOCT) program. Hypothesis: reductions in body fat percentage may not be revealed by reductions in BMI–SDS.<p cla...

hrp0086rfc2.2 | Bone &amp; 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...

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...