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Autor:
Kie Yasuda, Shinsuke Onuma, Yoko Miyoshi, Miho Fukui, Yoshinori Satomura, Kazuhiko Bessho, Makiko Tachibana, Takeshi Kimura, Tomoya Fukuoka, Keiichi Ozono
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:1411-1418
Objectives Iodine deficiency and excess both cause thyroid dysfunction. Few data describe the relationship between iodine status and outcomes of congenital hypothyroidism (CH) in iodine-sufficient areas. We investigated urinary iodine (UI) concentrat
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:1023-1030
Objectives Medium-chain (MCA) and long-chain acylcarnitine (LCA) blood concentrations play a significant role in the fatty acid (FA) oxidation process, especially during the first days of life. Identification of their abnormal concentrations, via exp
Autor:
Leyla Tümer, Aslı İnci, Merve Emecen Sanli, İlyas Okur, Ayse Kilic, Ekin Aktasoglu, Fatih Süheyl Ezgü
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:813-816
Objectives Familial hyperphosphatemic tumoral calcinosis is a rare disorder characterized by hyperphosphatemia with recurrent ectopic periarticular calcifications, in addition to other visceral and vascular manifestations, without any inflammatory or
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 33:1501-1505
Background Aldosterone deficiency (hypoaldosteronism) or aldosterone resistance (pseudohypoaldosteronism) both result in defective aldosterone activity. Case presentation A 42-day-old man presented with failure to thrive, hyponatremia, high urine sod
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 33:1111-1115
Objectives Vitamin A is essential for normal cellular physiology and is often taken as a dietary supplement. Hypervitaminosis A can lead to hypercalcemia by increasing osteoclasts and subsequent bone resporption. Dietary supplements including vitamin
Autor:
Tsuyoshi Isojima, Serap Turan, Serpil Bas, Tulay Guran, Abdullah Bereket, Belma Haliloglu, Pinar Isguven, Zeynep Atay, Sachiko Kitanaka, Saygin Abali, Mayuko Tamura
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 33:557-562
BackgroundHereditary vitamin D-resistant rickets (HVDRR) is caused by vitamin D receptor (VDR) defects. Patients with HVDRR do not respond to standard doses of calcitriol and oral calcium (Ca) treatment and need to be treated with intravenous Ca (IV-
Autor:
Silvia Einaudi, Licia Peruzzi, Federica Chiale, Enrica Abrigo, Isabella Morra, Luca Lonati, Gianpaolo Di Rosa
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 32:1193-1197
Background Pheochromocytomas (PCCs) and paragangliomas (PGLs) are known to physicians as the “great mimickers” because of their variable presentation, especially in the pediatric population. Rarely, they co-secrete other hormones. Case presentati
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 32:1259-1264
Background Fibroblast growth factor 23 (FGF23) is a recently discovered bone-derived regulator of vitamin D metabolism and phosphate homeostasis. It inhibits phosphate reabsorption and calcitriol production by the kidney. Myelomeningocele (MMC) remai
Autor:
Ved Bhushan Arya, Justin H Davies
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 32:403-407
Context Germ cell tumours (GCTs) secreting β-human chorionic gonadotropin (β-HCG) are a rare cause of gonadotropin-independent precocious puberty (GIPP). Case description A 5.7-year-old boy presented with GIPP. Investigations to elucidate the under
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 31:1061-1064
Background Excessive iodine exposure is an often overlooked cause of neonatal hypothyroidism. Case presentation We present an infant with iodine-induced hypothyroidism, which was detected at age 15 days by newborn screening. The infant’s iodine exc