hrp0092p2-59 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Spondyloocular Syndrome: Presentation of Two Siblings Diagnosed with The Rare Disease and The Results of Pamidronate Therapy

Vuralli Dogus , Simsek Kiper Pelin Ozlem , Utine Eda , Unsal Yagmur , Alikasifoglu Ayfer , Kandemir Nurgun

Spondyloocular syndrome (OMIM 605822) is an autosomal recessive disorder characterized by skeletal complaints (osteoporosis, platyspondyly, multiple bone fractures), hearing loss and ocular symptoms (cataracts, retinal detachment). XYLT2 gene (OMIM 608125) mutation encoding xylosyltransferase II enzyme which is responsible from the first step of proteoglycan assembly is responsible for the pathogenesis. Phenotypical variability is associated with varying genetic expre...

hrp0094p2-65 | Bone, growth plate and mineral metabolism | ESPE2021

Is conventional treatment still the first choice in pediatric patients with PHEX mutations in an era of monoclonal FGF-23 antibody?

Alikasifoglu Ayfer , Unsal Yagmur , Gonc Nazlı , Ozon Alev , Kandemir Nurgun , Alikasifoglu Mehmet ,

Objective: Hereditary hypophosphatemic rickets is a rare renal phosphate wasting disorder causing burden on pediatric patients despite conventional treatment of phosphate and calcitriol. The aim of this study is to analyze genetic and clinical variability of children with X-linked hypophosphatemic rickets (XLHR), focusing on short term, long term and pubertal impact of conventional treatment. Design: Retrospective cohort studyMet...

hrp0092p1-239 | Multisystem Endocrine Disorders | ESPE2019

Unusual Presentation of Autoimmune Polyglandular Syndrome Type 1 (aps1)

Vuralli Dogus , Tan Cagman , Gulsen Hayriye , Unsal Yagmur , Ayvaz Deniz Cagdas , Demir Hulya , Ozon Alev , Alikasifoglu Ayfer , Tezcan Ilhan

Introduction: Autoimmune polyendocrinopathy type 1 (APECED) is an autosomal recessive disease caused by loss of function mutations of autoimmune regulatory (AIRE) gene. Characteristically, early onset ectodermal dysplasia, mucocutaneus candidiasis is followed by hypoparathyroidism and primary adrenal insufficiency usually within the first two decades. Although clinical features may be variable, recently, it is suggested that population characteristics and natu...

hrp0094p2-29 | Adrenals and HPA Axis | ESPE2021

Fludrocortisone is the salvage treatment in cases with calcineurin inhibitor related hyperkalemia

Unsal Yagmur , Baltu Demet , Gulhan Bora , Visal Okur Fatma , Duzova Ali , Ozon Alev , Topaloğlu Rezan , Gonc Nazlı ,

Calcineurin inhibitors (CNIs) are widely used in pediatric transplantation for prevention of graft rejection, prophylaxis and treatment of graft versus host disease. Though hyperkalemia is a common adverse effect (10-45%), alterations in renin-angiotensin-aldosterone system in CNI-induced hyperkalemia are not well elucidated. Consequently, CNIs vital to transplantation are usually switched. Here, we describe two cases with CNI-induced hyperkalemia due to hyporeninemic hypoaldo...

hrp0094p2-40 | Adrenals and HPA Axis | ESPE2021

Retrospective Evaluation of Cases Diagnosed with Classical Congenital Adrenal Hyperplasia Due to 21 Hydroxylase Deficiency

Unsal Nafiye , Elmaoğulları Selin , Savaş Erdeve Şenay , Cetinkaya Semra ,

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder. Diagnosis, monitoring of treatment, adjustment of drug doses are important for height, puberty and psychologic status of patients and their families.Materials & Methods: Patients with classical CAH due to 21-hydroxylase deficiency who were followed regularly in pediatric endocrinology clinic between 1994 and 2019 were included in this study. Inform...

hrp0094p2-341 | Multisystem endocrine disorders | ESPE2021

Neonatal McCune Albright Syndrome Presenting with Diabetes Mellitus

Unsal Yağmur , Gonc Nazlı , Rana User Idil , Hızarcıoglu Gulsen Hayriye , Gulhan Bora , Ekinci Saniye , Karagoz Tevfik , Ozon Alev ,

Cafe au-lait skin macules, Cushing syndrome (CS), hyperthyroidism, liver and cardiac dysfunction have been described as presenting features of neonatal McCune Albright Syndrome (MAS). Despite being defined, neonatal diabetes mellitus due to hypercortisolism is a rare presenting feature. Outcome of patients presenting in neonatal period is usually unfavorable, tthough spontaneous resolution of hypercortisolism have been reported. Newborn girl was born at 38 weeks of gestation v...