ESPE Abstracts

Background: Both CYP24A1 and SLC34A1 gene mutations are responsible for idiopathic infantile hypercalcemia (IIH). Whereas loss-of-function mutations in CYP24A1 (25-OH-vitamin D-24-hydroxylase) lead to a defect in the inactivation of active 1,25(OH)2-vitamin D3, mutations in SLC34A1 encoding renal sodium-phosphate co-transporter NaPi-IIa lead to primary renal phosphate wasting combined with an inappropri...

Introduction: X-linked hypophosphatemic rickets (XHR) is the most common form of hereditary rickets, with an estimated incidence of 1: 20.000 individuals. The main characteristic of the disease is excessive renal phosphate loss, which leads to hypophosphatemia with high phosphaturia and defective bone mineralization.XHR results from mutations in the in the PHEX gene (Phosphate Regulatory Gene with Homology for Endopeptidases located on t...

Background: Neonatal hypocalcemia is a common disorder, occurring more often in premature, low birth weight and asphyxiated infants, as in infants born to mothers with diabetes. Nevertheless its aetiology is heterogeneous ranging from iatrogenic, idiopathic and inherited metabolic abnormalities. Among these, Autosomal Dominant Hypocalcemia (ADH) is a rare syndrome characterized by the presence of inappropriately low concentration of circulating parathyroid hor...

Introduction: 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) enzyme deficiency is a rare cause of 46 XY disorder of sexual development. It is inherited autosomal recessively and clinical phenotype is highly heterogeneous and depends on the mutation severity. Conversion of androstenedione to testosterone deteriorates due to lack of enzyme.Objective: In this case report, we present a case who was born en...

Background: In young adults patients (pts) with CAH due to 21OHD few and conflicting data have been reported on bone mineral quality (BMQ) evaluated by quantitative ultrasound (QUS).Objective and hypotheses: To evaluate the bone mineral status by QUS variables assessed at proximal phalanges of the hand in a cohort of young adults with classical CAH due to 21OHD and the possible associations with their clinical and metabolic features.<p class="abstext...

Introduction: Topical corticosteroids are often used for the treatment of dermatological diseases. However, systemic adrenal insufficiency may result from their overuse. Patients at risk for development of adrenal insufficiency include especially young children and patients with damaged skin barriers.Case presentation: We report the case of a 11-year-old boy who was seen in our clinic for suspicion of Cushing syndrome. He was adressed by a dermatologist ...

Background: Osteoporosis-pseudoglioma syndrome (OPPG), rare autosomal recessive entity, is characterized by juvenile osteoporosis, bone deformities, neuromotor retardation, and congenital blindness. This syndrome is due to the loss-of-function mutation in LRP5 (Low-density lipoprotein receptor-related protein 5). Here report four cases from three families, with confirmed molecular diagnosis who showed improvement of osteoporosis improved with biphosphonate therapy.<p class...

Background: GNAS 1 gene (guanine nucleotide binding protein, alpha stimulating) encodes the alpha subunit of the stimulatory guanine nucleotide-binding protein (G-protein). Variations in the GNAS 1 can cause several disorders including Pseudohypoparathyroisism Type 1A (PHP1A), Type 1B (PHP1B), Type 1C (PPHP1C), Progressive Osseous Heteroplasia (POH), Pseudopseudohypoparathyroidism (PPHP) and McCune-Albright syndrome (MAS).Objectives: To report 2 patients...

Osteogenesis imperfecta is a hereditary connective tissue disease developing based on the structure or synthesis impairment of type 1 collagen and proceeding with diffuse osteoporosis, fragility, fractures and deformities in bones. Bone mineral density can be at normal or even high levels particularly especially in type I and XIII. Here, a 13 year-old boy diagnosed as osteogenesis imperfecta with normal bone mineral density was presented and treatment results were shared. A 13...

Introduction: Vitamin D resistant rickets type II (VDDR-II) is a disease with a difficult treatment developed as a result of mutations in VDR gene. Despite high dose active vitamin D and oral calcium treatments, sufficient recovery cannot be achieved mostly. Successful results with intravenous calcium infusion that is an alternative treatment have been reported; however, serious restrictions and complications such as hospitalization, catheter infection, thrombosis, skin necros...