hrp0092p2-205 | Multisystem Endocrine Disorders | ESPE2019

Subcutaneous Ossifications in Children - Think About AHO!

Flury Monika , Quitter Friederike , Hiort Olaf , Huebner Angela

Background: Pseudohypoparathyroidism (Albright hereditary osteodystrophy (AHO)) is a rare congenital disorder mainly affecting bone and thyroid metabolism as a result of resistance of parathyroid hormone (PTH) and thyrotropin (TSH), gonadotropins, growth hormone-releasing hormone (GHRH) and calcitonin in the target tissues. According to the consensus statement "Diagnosis and management of pseudohypoparathyroidism and related disorders" published in 201...

hrp0095p1-225 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Nephrolithiasis and hypoparathyroidism with normocalcemia – detecting a new mutation solves the mystery

Reichardt Susen , Mayer Brigitte , Quitter Friederike , Huebner Angela

We report on a 17-year-old patient with hypoparathyroidism which was noticed during the diagnosis of a first renal colic a year and a half ago. At that time, a prevesical ureter stone on the right could be depicted sonographically, which disappeared spontaneously. Initially calcium levels in serum and urine were reported to be normal. However, a slight hypercalcemia and hypercalciuria as well as high normal vitamin D levels without vitamin D substitution were detected intermit...

hrp0095p1-223 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Real-world data in children with achondroplasia after licensing of Vosoritide

Palm Katja , Bechthold-Dalla Pozza Susanne , Gausche Ruth , Högler Wolfgang , Hoyer- Kuhn Heike , Hübner Angela , Keller Alexandra , Mirante Alice , Mohnike Klaus , Muschol Nicole , Nader Sean , Pfäffle Roland , Quitter Friederike , Rohrer Tilmann , Rutsch Frank , Schnabel Dirk , Semler Oliver , Silva Isabel , B. Sousa Sérgio , M.K. Voelkl Thomas , Wechsung Katja , Weigel Johannes , Woelffle Joachim , Lausch Ekkehart

Background: Achondroplasia (ACH), caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3), is characterized by severe growth failure and may be associated with multisystemic complications. The clinical phenotype is variable and relates to deformity of rhizomelic shortened legs, and myelon compression at cranial base and spine. Recent guidelines are published for diagnostic workflow, neurosurgical, orthopaedic and otorhinolaryngol...