hrp0098ha1 | Biallelic missense FDX1 mutation causes congenital adrenal hyperplasia with 11β‐hydroxylase deficiency and vitamin D‐resistant bone rickets | ESPE2024

Biallelic missense FDX1 mutation causes congenital adrenal hyperplasia with 11β-hydroxylase deficiency and vitamin D-resistant bone rickets

Janot Clément , Lucas Cécily , Mallet Delphine , Demdoum Mohammed , Martinez Antoine , Plotton Ingrid , Reynaud Rachel , Rigaud Chantal , Silve Caroline , Val Pierre , Roucher-Boulez Florence

Backgrounds and Aims: Primary adrenal insufficiency (PAI) is due to impaired production of steroid hormones by the adrenal cortex. Among PAI of genetic origin, most cases have congenital adrenal hyperplasia (CAH), due to 21-hydroxylase or less frequently 11β-hydroxylase deficiency (11OHD), but 5% have no clear genetic support. Adrenal steroidogenesis pathway comprises three P450 cytochrome-based mitochondrial oxidative steps (CYP11A1, CYP11B1 and CYP11B2)...

hrp0084p2-288 | Diabetes | ESPE2015

Functional Condition of the Kidneys (K/DOQI, 2002) by ACE Gene I/D Polymorphism in Children and Adolescents with Type 1 Diabetes Mellitus

Rakhimova Gulnara , Sadikova Akida , Alimova Nasiba

Aim: The work was initiated to assess functional condition of the kidneys and to study interrelation between ACE gene I/D polymorphism and stage of chronic kidney disease in children and adolescents with type 1 diabetes mellitus (DM) in compliance with K/DOQI recommendations (2002).Materials and methods: We examined 120 children and adolescents with type 1 DM, 53 (44.2%) males and 67 (55.8%) females among them (mean age 13.8±0.24 years; 95% CI: 13.3...

hrp0098p2-312 | Late Breaking | ESPE2024

Infantile Hypercalcemia Type 2 due to a novel compound heterozygous association in the SLC34A1 gene in a neonate with hypercalcemia and nephrocalcinosis

T Papadimitriou Dimitrios , Fourikou Maria , Ververi Athina , Kaffe Katerina , Mantsiou Chrysanthi , Goudesidou Maria , N Grivea Ioanna , D Kollios Konstantinos

SLC34A1 gene encodes for the sodium-phosphate cotransporter 2A (NPT2a), highly expressed in the proximal renal tubule. Three different human phenotypes have been linked with NaPi-IIa variation: Hypophosphatemic Nephrolithiasis with Osteoporosis, Renotubular Fanconi Syndrome Type 2 and Infantile Hypercalcemia 2 (HCINF2). Dysfunctional NPT2a can lead to renal phosphate loss, hypophosphatemia, increased CYP27B, decreased CYP24A1 expression with increased 1,25(OH)2D and suppressed...

hrp0095p1-20 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Report of the first paediatric case of hypercalciuric hypocalcaemia managed with simultaneous parathyroid and kidney transplantation

Oprea Alina , Jones Helen , Buck Jackie , Kessaris Nicos , D. Sinha Manish , Ware Nick , Cheung Moira

Background:Calcium-sensing receptors (CaSR) located on parathyroid glands and kidneys act to regulate serum calcium levels. Inherited hypocalciuric hypercalcaemia and autosomal dominant hypercalciuric hypocalcaemia are due to inactivating and activating CaSR mutations respectively. We present the immediate and medium term postoperative clinical course of the first paediatric patient with hypercalciuric hypocalcaemia managed with a simultaneous parathyroid and ...

hrp0082p2-d3-307 | Bone (2) | ESPE2014

Suppression of Bone Turnover and its Determinants in Children Receiving Bisphosphonate Therapy

Kyriakou Andreas , McNeilly Jane D , McMillan Martin , Shaikh Guftar M , Mason Avril , Ahmed Syed Faisal

Background: Bisphosphonate therapy (BPT) reduces osteoclast activity and may be associated with adynamic bone turnover. The extent of suppression of bone turnover and its determinants are unclear.Method: Markers of bone metabolism were evaluated in 15 children (9M/6F) undergoing BPT for osteoporosis. The median age at first biochemical assessment was 10.8 years (0.16, 16.3). Serum type I collagen cross-linked C-telopeptide (CTX), alkaline phosphatase (AL...

hrp0098p2-311 | Late Breaking | ESPE2024

Genotype and phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type II (VDDRII): A nationwide multicenter retrospective cross-sectional study

Cayir Atilla , Turan Serap , Selver Eklioğlu Beray , Bayramoğlu Elvan , Unal Edip , Yildiz Melek , Acar Sezer , Eviz Elif , Dursun Fatma , Türkyılmaz Ayberk , Köprülü Özge , Özkaya Beyhan , Betül Kaygusuz Sare , Cantürk Merve , Sena Dönmez Ayşe , Turan Ihsan , Derya Kardelen Al Aslı , Buyukinan Muammer , Aydın Can , Dündar İsmail , Kırmızıbekmez Heves , Çamtosun Emine , Eroğlu Filibeli Berna , Akyürek Nesibe , Keskin Melikşah , Bilge Koca Serkan , Özkan Behzat , Bereket Abdullah , Demirbilek Huseyin

Background: Vitamin D Dependent Rickets Type-II (VDDRII) is a rare autosomal recessive disorder characterized by defects in its effect on the target organ due to mutations in the vitamin receptor (VDR) gene (Type 2) encoding for the active form 1,25 dihydroxyvitamin D.Objective and hypotheses: To evaluate the clinical characteristics, molecular genetics analysis results and long-term follow-up of a large nationwide cohor...

hrp0095rfc11.6 | Late Breaking | ESPE2022

Genotype, phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type IA (VDDR1a): A nationwide multicentre retrospective cross-sectional study

Cayir Atilla , Demirbilek Huseyin , Turkyılmaz Ayberk , Turan Serap , Bereket Abdullah , Darendeliler Feyza , Nuri Özbek Mehmet , Ünal Edip , Okdemir Deniz , Esen Ihsan , Eren Erdal , Yıldırım Ruken , Çetinkaya Semra , Cansu Sahin Kadriye , Anık Ahmet , Sena Dönmez Ayşe , Pınar Öztürk Ayşe , Bayramoğlu Elvan , Buyukinan Muammer , Gurbuz Fatih , Demir Korcan , Kılınç Suna , Betul Kaygusuz Sare , Çelmeli Gamze , Selvi Eklioglu Beray , Acar Sezer , Dursun Fatma , Turan Ihsan , Özkaya Beyhan , Kurnaz Erdal , Taner Baran Rıza , Özkan Behzat

Background: Vitamin D Dependent Rickets Type IA(VDDR1a) is an autosomal recessive disorder characterized by defects in the biosynthesis of its active form 1,25 dihydroxyvitamin D due to the mutations in the CYP27B1 gene encoding for the enzyme 1α-hydroxylase.Objective and hypotheses: To evaluatethe clinical characteristics, molecular genetics aetiology and long-term outcome of a large nationwide cohort of VDDR-Ia f...

hrp0095lb3 | Late Breaking | ESPE2022

High Glycated Hemoglobin instead of High Body Mass Index Might Increase the Urine N-acetyl-β-D-glucosaminidase Concentration in Children and Adolescents with Diabetes Mellitus

Jin Park Su , Bae Ahn Moon , Suh Jin-Soon , Soon Cho Kyoung , Ho Jung Min , Suh Byung-Kyu

Children with diabetes, and particularly those with obesity, have poor glycemic control. They are thus at higher risk of early microvascular complications. Renal tubulointerstitial markers are integral to evaluating diabetic nephropathy. Various biomarkers have been proposed, but their role in the obese pediatric population is uncertain. We investigated renal injury markers in children with diabetes, according to obesity, and determined their role as early predictors of diabet...

hrp0086p2-p160 | Bone & Mineral Metabolism P2 | ESPE2016

Fractures in Children with Type 1 Diabetes are Associated with Poorer Bone Mineral Status and Glycaemic Control

Chen Suet Ching , Shepherd Sheila , McMillan Martin , McNeilly Jane D , Robertson Kenneth J , Wong Sze Choong , Ahmed S Faisal

Background: Type 1 Diabetes (T1D) is associated with increased fracture risk.Aim: Understand the association between glycaemic control and bone health in children with T1D.Method: Children (n, 32) with T1D and a median (range) age of 13.7 years (10.4,16.4), were recruited to study bone mineral content (TB & LS) and body composition by DXA. All data were corrected for size. Vitamin D, Bone alkaline phosphatase (BAP) and...

hrp0092p2-46 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Seasonal 25-hydroxy Vitamin D3 Variations in School-aged Children from Santiago de Chile

Poggi Helena , Dominguez Gonzalo , Monica Arancibia , Moore Rosario , D'Apremont Ivonne , Solari Sandra , Allende Fidel , Sifaqui Sofia , Garcia Hernan , Martinez-Aguayo Alejandro

Introduction: The main role of Vitamin D (VitD) is the regulation of calcium, which is also regulated by the parathyroid hormone (PTH), and phosphate metabolism. The main source of the more biologically active 25-hydroxy-Vitamin D3 (25OHVitD3) comes from the action of ultraviolet light on the skin.Aim: To determine if there are differences in concentrations of 25OHVitD3, calcium and PTH in school-aged children throughout...