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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
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:
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:
Yassmin Musthaffa, Juliane Leger, Vikas Goyal, Mark Harris, Margaret-Anne Harris, Nitin Kapur
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 31:1325-1333
BackgroundCongenital central hypoventilation syndrome (CCHS) is a rare disorder of autonomic control. A hypoglycaemic seizure in a 4-year-old girl with CCHS led to a more detailed examination of glycaemic control in a cohort of children with CCHS.Met