ESPE Abstracts

Introduction and Aim: FGF-23 is a hormone that works by inhibiting phosphorus reabsorption in kidneys, and systematic regulation of phosphate homeostasis by FGF23 depends on the activity of the membrane protein Klotho. It affects the active vitamin level according to the bioactive free vitamin hypothesis, which binds DVBP to vitamin D and prolongs its half-life. In this study, it was aimed to investigate 1.25 (OH) Vitamin D, Vitamin D Binding Protein, FGF-23 a...

XY, 14 years old, was born at term, birth weight 4900 g, length 54 cm. No problems reported in the early years of life. Due to recurrent abdominal pain for several years associated with dyspepsia, at 13 years he performed blood tests, with evidence of hypocalcemia (6.1 mg/dl) and hyperphosphatemia (8.6 mg/dl). For this reason, he was admitted to our ward: the weight was Kg 67.1 (1.8 SDS), height 168 cm (1.5 SDS), pubertal stage 4, objective examination in the norm. The exams p...

Childhood obesity (CO) is an important risk factor for the development of many chronic metabolic diseases in adulthood. Understanding the mechanisms that promote childhood obesity and eliminating these causes in childhood are critical for later life. One of the major complications of obesity is insulin resistance. The purpose of this study is to investigate the relationship between sunlight exposure and insulin resistance in childhood. Specifically, it examines how the duratio...

X-linked hypophosphatemia (XLH, MIM 307800) is a rare hereditary disorder of bone metabolism characterized by growth impairment, leading to bone deformities and short stature and beside others to muscle function deficits. XLH is caused by defect of endopeptidase PHEX leading to high levels of FGF-23 and thereby renal phosphate wasting. While conventional treatment includes substitution of phosphate and 1-25 OH-Vitamin D, now a treatment with a FGF-23 antibody (burosumab) is av...

Background: Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a are autosomal recessive disorder which presents in early infancy with generalized convulsions, or other symptoms related to increased neuromuscular excitability. Several mutations in the TRPM6 gene have been described. Early diagnosis is an effective means of preventing the inevitable neurocognitive sequelae which occur in the absence of appropriate treatment.<s...

Background: Hepatoblastoma is the most common malignant pediatric hepatic tumor virtually confined to infants and young children. Accompanied by raised levels of alpha fetoprotein (AFP)，rarely, the beta human chorionic gonadotropin (β hCG) levels may also be elevated, which can cause male peripheral precocious puberty (PPP).Objective: To report a case of HB presented with PPP with elevated serum AFP, β h...

Introduction: Magnesium is the second most abundant intracellular cation, and its low level causes several side effects related to hypoparathyroidism, hypocalcaemia, and vitamin D deficiency. Furthermore, some of the cases of hypomagnesemia are linked to platinum-based chemotherapy, resulting in neurotoxicity and nephrotoxicity. Dorsal root ganglion is the main target of platinum drugs, whereby its signs and symptoms can be detected months after chemotherapy. ...

Background: Rickets is a disease due to a reduced mineralization of the rapidly growing bones (skull, ribs, wrists, knees, ankles) with consequent accumulation of non-mineralized bone matrix, called osteoid tissue. The most frequent cause of rickets is vitamin D and/or calcium deficiency caused by reduced sun exposure, inadequate dietary intake or malabsorption (nutritional rickets).Clinical history: R., a 1 year and 6 m...

Background: Clinical spectrum of 46 XY DSD is characterized by a greatest diversity. Atypical sex development can occur through different steps of testicular differentiation. Etiologies of 46 XY DSD are termed gonadal dysgenesis, hormonal dysfunction and action. Its global incidence is unknown but the most common presentation, hypospadias, is understood to occur in 1 in 125 male births, and complete androgen insensitivity has an incidence of 1:20,000 people.</...

Normocalcemic primary hyperparathyroidism (NPHPT) has been recognized as a variant of primary hyperparathyroidism (PHPT) and it is characterized by elevated PTH with persistently normal concentrations of albumin-adjusted total and ionized calcium. It is related to increased risk in development of osteopenia/osteoporosis as well of parathyroid adenoma and hypercalcemia/hypercalciuria. In order to identify biochemical disorders of PTH in normocalcemic children we performed in al...