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Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:1139-1146
Objectives An increase in the incidence of congenital hypothyroidism (CH) with eutopic gland has been reported worldwide due to neonatal screening programs. In this study, we aimed to determine the prevalence of transient CH (TCH) and to investigate
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:961-969
Objectives Gonadotropin-releasing hormone analogs are the treatment of choice for central precocious puberty (CPP). This study characterizes patients treated with histrelin implant or leuprolide injection. Methods A US claims database was used to ide
Autor:
Henrike Hoermann, Roschan Salimi Dafsari, Christina Reinauer, Marcia Roeper, Ertan Mayatepek, Sebastian Kummer, Thomas Meissner, Felix Koestner
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:867-875
Objectives Transient hyperinsulinism (THI) is a hypoglycemia disorder which resolves spontaneously within the first weeks or months of life. The pathomechanism of THI is not elucidated yet; however, it is known that perinatal stress predisposes for T
Autor:
Justine Descamps, Marc Nicolino, Cyril Ruello, Julitta de Bellescize, Cécile Saint-Martin, Kevin Perge
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:667-673
Objectives Serious hyperinsulinemic hypoglycemia (HH) is generally the main initial symptom of hyperinsulinism. Epilepsy, without any overt feature of hypoglycemia, might be a very rare initial presentation of late-onset isolated hyperinsulinism. Cas
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:531-534
We present an unusual case of SHOX deficiency associated with Léri-Weill dyschondrosteosis (LWD), Hashimoto’s thyroiditis and pseudohypoparathyroidism 1B in a young woman. To our knowledge, this is the first ever report of these disorders coexisti
Autor:
Takayuki Oyanagi, Tomonobu Hasegawa, Mototoshi Kato, Seishi Nakatsuka, Tatsuo Kuroda, Takeshi Sato, Tomohiro Ishii
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:407-410
Objectives The efficacy of sodium phenylbutyrate (SPB) for hyperammonemia associated with congenital portosystemic shunt (CPSS) remains unknown. We show the effectiveness of oral SPB. Case presentation Our patient had CPSS with severe hypoplasia of e
Autor:
Julienne A. R. Carvalho, Adriane Cardoso-Demartini, Rodrigo Bruel da Silveira, Luiz Alkimin de Lacerda, Monica N Lima Cat, Suzana Nesi-França, Juliana C. R. Rojas Ramos, Rosana Marques Pereira
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 33:1449-1455
Objectives Adequate treatment of congenital hypothyroidism (CH) is required for normal growth and sexual development. To evaluate pubertal development in patients with permanent CH detected by a statewide Neonatal Screening Program of Paraná and, se
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 33:1605-1608
Objectives Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes that is usually diagnosed in the first six months of life. Case presentation We report on a male infant with neonatal diabetes who presented with diabetic ketoacidosis a
Autor:
Tomás Palanques-Pastor, Ana García-Robles, Carmen de Mingo, María Brugada, Nieves Vila, Francisca Moreno, Carlos Orti, Sara León, José Luis Poveda
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 33:1093-1096
Objectives To present a case report of succesfully metyrapone treatment of a neonatal patient with McCune–Albrigth syndrome (MAS), a rare disease caused by a genetically mosaic disorder and is characterized by variable hyperfunctional endocrinopath
Autor:
Corrado Regalbuto, Daniela Larizza, Annalisa De Silvestri, Francesco Bassanese, Valeria Calcaterra, Riccardo Albertini, Rossella Amariti, Erica Crivicich, Federica Vinci, Andrea Martina Clemente
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 33:885-891
Objectives Limited data on the evolution of thyroid disorders (TD) in Down syndrome (DS) are available. We characterized the timing, prevalence, and dynamics of TD in patients with DS during a long-term follow-up. Methods We retrospectively evaluated