hrp0095p2-47 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Severe hypophosphatemia in a girl with vitamin D-dependent rickets type I: a case report

Menichetti Sofia , Ferrari Marta , Stagi Stefano

Introduction: Vitamin D-dependent rickets type I (OMIM # 264700) is a rare autosomical recessive disorder that affects vitamin-D metabolism characterized by severe hypocalcaemia with moderate hypophosphatemia. The most common form is type IA, caused by the mutation of gene coding for 1-alpha-hydroxylase (CYP27B1OMIM * 609506. 12q14) that converts the 25-OH-vitaminD in 1,25-OH-vitaminD.Case report: A 2.3 years female with...

hrp0095p1-196 | Thyroid | ESPE2022

Diffuse Sclerosing Variant of Papillary Thyroid Cancer in a boy with Goldenhar Syndrome

Ferrari Marta , Cerutti Matteo , Ricci Franco , Stagi Stefano

A 16-year-old boy was admitted to the Emergency Department for a painless laterocervical swelling, dysphagia and an ultrasound suspect of thyroiditis. On examination he presented facial asymmetry due to maxillary bones hypoplasia and facial nerve palsy of recent onset. There was also a history of hearing loss, hypospadias, Arnold-Chiari malformation and vertebral defects according to a clinical phenotype of Goldenhar Syndrome (GHS). Blood exams showed TSH 7.46 μU/ml (0.68-4...