hrp0089fc2.3 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

Clinical Course of Hypoparathyroidism in Patients with APECED (APS1)

Laakso Saila , Tillander Daniela , Makitie Outi

Background: Hypoparathyroidism (HP) is the most common first endocrinopathy in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED or APS1), an autosomal recessive condition caused by mutations in the AIRE gene. Treatment of HP has not changed over the decades and parathyroid hormone is used only rarely.Aim: To describe clinical characteristics and course of HP in a cohort of patients with APECED and eva...

hrp0094p1-158 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Low adrenal androgen levels in patients with and without primary adrenal insufficiency in APECED (APS1)

Borchers Joonatan , Jaaskelainen Jarmo , Makitie Outi , Laakso Saila ,

Objective: Treatment of primary adrenal insufficiency (PAI) is often challenging in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED or APS1). In addition, electrolyte levels often fluctuate in APECED patients. This study aimed to describe adrenal steroid and electrolyte levels in patients with APECED.Design: This cross-sectional study included 43 Finnish patients with APECED (27 females, 7 under 18 ye...

hrp0089p3-p040 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

A Novel p.Gly775Glu Missense COL1A2 Mutation Causes Severe Osteogenesis Imperfecta in a Prepubertal Girl

Kotanidou Eleni P , Doulgeraki Artemis , Costantini Alice , Makitie Outi , Athanasopoulou Helen , Laliotis Nikolaos , Galli-Tsinopoulou Assimina

Background: Osteogenesis imperfecta (OI) due to COL1A1 and COL1A2 mutations is the most common cause of primary osteoporosis.Case presentation: We present a 10-year-old girl with a history of skeletal fragility, starting in the perinatal period. Her parents are not consanguineous and there is no family history of early osteoporosis. To date, she has sustained nineteen low-energy, long bone fractures and she has skeletal deformities (leg length discrepanc...

hrp0086p1-p123 | Bone & Mineral Metabolism P1 | ESPE2016

Skeletal Manifestations in APECED

Laakso Saila , Toiviainen-Salo Sanna , Viljakainen Heli , Perheentupa Jaakko , Makitie Outi

Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED or APS1) is an autosomal recessive disorder characterized by chronic candidiasis and autoimmune destruction of endocrine organs. Hypoparathyroidism (HP), adrenocortical failure (AF) and hypogonadism are the most common endocrinopathies, which together with their treatment may impact bone health. However, very little is known about the long-term skeletal health in patients with APECED.<p clas...

hrp0082p2-d2-379 | Fat Metabolism &amp; Obesity (1) | ESPE2014

Severe Childhood-Onset Obesity and Testicular Function After Puberty

Laakso Saila , Viljakainen Heli , Lipsanen-Nyman Marita , Turpeinen Ursula , Saukkonen Tero , Makitie Outi

Background: Obesity has in males been associated with reduced testosterone levels during and after puberty. However, the onset and progress of puberty into fertility in obese boys remain inadequately evaluated.Objective and hypotheses: We aimed to study testicular function at the end of pubertal development (15–24 years) in males with severe childhood-onset obesity (height-adjusted relative weight exceeding 160% before the age of 7 years).<p cla...

hrp0086p1-p117 | Bone &amp; Mineral Metabolism P1 | ESPE2016

No Severe Hypercalcemia During a 12-Month High-Dose Vitamin D Intervention in Infants

Enlund-Cerullo Maria , Valkama Saara , Holmlund-Suila Elisa , Rosendahl Jenni , Hauta-alus Helena , Viljakainen Heli , Andersson Sture , Makitie Outi

Background: Vitamin D supplementation is widely recommended to infants, but the optimal dose remains unclear. Vitamin D regulates calcium metabolism, and overdosing and high intake may result in hypercalcemia.Objective and hypotheses: We measured serum pH-adjusted ionized calcium (Ca-ion/pH 7.40) concentrations at 6 and 12 months and 25-hydroxyvitamin D (S-25-OHD) at 12 months in order to evaluate the risk of hypercalcemia during vitamin D3 su...

hrp0092rfc6.3 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Increased Burden of Common Risk Alleles in Children with a Significant Fracture History

Manousaki Despoina , Kämpe Anders , Forgetta Vince , Makitie Riikka , Bardai Ghalib , Belisle Alexandre , Li Rui , Makitie Outi , Rauch Frank , Richards Brent

Background: Fractures are common in children, but a significant fracture history, defined as low-trauma vertebral fractures or multiple long bone fractures, is rare. Children with such history and no osteogenesis imperfecta (OI) are often presumed to have another Mendelian disease. However, in adults, multiple common risk alleles of small effect influence risk of fracture. We tested if subjects with a significant childhood fracture history have an increased bu...

hrp0089p2-p040 | Bone, Growth Plate &amp; 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 ...

hrp0086p1-p115 | Bone &amp; Mineral Metabolism P1 | ESPE2016

A European Survey to Identify New Roads for Care, Training and Research Around Rare Metabolic Bone Diseases

Fernandez Isabelle , Ahmed Syed Faisal , Bishop Nick , Brandi Maria Luisa , Doulgeraki Artemis , Haeusler Gabriele , Hogler Wolfgang , Kostik Mikhail , Makitie Outi , Moreno Gabriel Martos , Nilsson Ola , Schnabel Dirk , Šumnik Zdenek , Tillmann Vallo , Turan Serap , Zillikens Carola , Linglart Agnes , on behalf of the European Metabolic Bone Network

Background: Rare metabolic bone diseases (RMBD) are at the crossways of Endocrinology, Nephrology, Orthopaedic surgery and Rheumatology. Most of RMBD lead to short stature, bone pain, tooth anomalies, leg deformities, bone fragility and disability of variable importance. The organization of care varies immensely amongst European countries. Several European networks dedicated to RMBD already exist, supported by societies such as ESPE, ECTS or research grants, albeit their focus...