ESPE Abstracts

SLC34A1 encodes renal sodium-phosphate cotransporter 2A. It has been identified as being a part of the etiology of idiopathic infantile hypercalcemia. We report a case of a 1-month old girl, initially hospitalized due to perinatal detection of nephrocalcinosis. Blood tests showed hypercalcemia, hypophosphatemia, hypercalciuria and increased 1,25-(OH)2D3. Renal ultrasound revealed medullary nephrocalcinosis. An abnormality in vitamin-D metabolism was suspected and genetic testi...

Background: Hypomagnesemia is a frequent condition in patients with diabetes mellitus (DM). It could influence metabolic control in patients with DM. Relevant studies concern mainly adults and there are few data from the pediatric population. The aim of the present study was to evaluate magnesium levels and examine their possible association with glycemic control in pediatric patients with diabetes mellitus.Methods: In all, 36 patients with DM (type 1, 3...

We report a patient with medulloblastoma showing severe hypercalcemia and a raised PTHrP serum level. He was a 19-year-old with a history of recurrent medulloblastoma. He developed constipation, lethargy and altered mentality for 3 weeks. There was no family history of hypercalcemia. Laboratory test revealed hypercalcemia of 18.2 mg/dL. PTHrP increased to 10.7 pmol/L (normal range: <1.1 pmol/L), whereas serum level of intact parathyroid hormone was suppressed to 5 pg/mL (n...

Background: Gonadotropin-releasing hormone agonists (GnRHa) have been widely used to treat patients with central precocious puberty (CPP). Several studies have investigated changes in body composition in patients with CPP following GnRHa treatment. But the results are inconsistent. This study aimed to investigate the influence of GnRHa treatment on the weight and body mass index (BMI) of girls who were diagnosed with idiopathic CPP or early puberty (EP)....

Case presentation: A 23 months-old girl visited the hospital because of fever and left neck mass. She was diagnosed as acute suppurative thyroiditis with piriform sinus fistula. Thyroid sonography showed perithyroidal abscess formation and thyroid scan showed decreased uptake of Tc-99 m pertechnate of both thyroid glands. Magnetic resonance imaging of neck suggested infected 3rd and 4th branchial cyst. And there was tiny fistula between thyroid and piriform sinus on barium eso...

Purpose: Recent reports indicate that being small for gestational age could be a risk factor for delayed thyroid stimulating hormone (TSH) elevation (dTSH) in preterm infants. Very few studies have investigated the development of delayed thyroid stimulating hormone elevation in small-for-gestational-age late-preterm infants with a gestational age of 34–36 weeks.Methods: We retrospectively included 70 small-for-gest...

Familial hypobetalipoproteinemia (FHBL) is an autosomal codominantly inherited disorder of lipid metabolism characterized by <5th percentile plasma levels of LDL cholesterol or total apolipoprotein B (apoB). LDL cholesterol level is usually between 20-50 mg/dL. FHBL results from mutations in APOB, PCSK9 gene. Patients with homozygous APOB-related familial hypobetalipoproteinemia (APOB-FHBL) may have symptoms of fat malabsorption, steatorrhea, diarrhea, failure to thrive, de...

Background: Sjogren’s syndrome is a systemic autoimmune disease, and it is rare in pediatric population. Primary symptoms are dry mouth and dry eyes. However, it may present with systemic manifestations, involving lungs, liver, kidneys, vasculature, and blood. We report a case of Sjogren's syndrome with systemic involvement in a child with Graves' disease.Case report: A 9-year-old 11-month-old girl presen...

Purpose: The purpose of this study was to retrospectively analyze the clinical, laboratory, imaging findings (sonography and Tc99m-pertechnetate scanning) in patient with congenital hypothyroidism (CH) who completed 3 years of LT4 medication.Method: 86 patients with congenital hypothyroidism were retrospectively reviewed. Medical history, laboratory, radiologic finding at the time of CH diagnosis were evaluated. Correlat...

Wieacker-Wolff syndrome, first described in 1985, is a rare congenital syndrome caused by ZC4H2 mutation reported in 9 family and 6 sporadic cases to date. It is an X-linked recessive disorder characterized by congenital joint contractures, mental retardation, progressive neurologic muscular atrophy, scoliosis, and hypoglycemia. A nine-year-old boy with brain atrophy, mental retardation, scoliosis, developmental dysplasia of the hip, convulsions, and exotropia presented to our...