Endocrine Abstracts

Pseudohypoparathyroidism (PHP) is an uncommon sporadic or inherited genetic disorder subdivided into several distinct entities characterized by parathyroid hormone (PTH) resistance in association with distinctive skeletal and developmental defects.We report a case of a 7 years and 8 months old boy, evaluated at the Endocrinology Department of ‘St Spiridon’ Hospital Iasi in January 2013, who had a history of hypothyroidism diagnosed at the age o...

Cyclic Cushing’s syndrome is a rare, probably under-reported disorder, characterized by repeated episodes of cortisol excess interspersed by periods of normal cortisol secretion, due to both ACTH-dependent and independent causes, and should be discerned from mild or subclinical Cushing’s syndrome and pseudo-Cushing’s states.We present a female patient 52 years old, with cyclic hypercortisolism clinically manifested and biologically confirm...

Background: Noonan syndrome (NS) is a genetic multisystemic disorder secondary to mutations in Ras/MAPK pathway, essential for cell’s differentiation and growth, patients associating short stature and skeletal anomalies. We describe the alterations in bone development and growth in five children with NS, four of which received treatment with recombinant human GH (rhGH).Methods: We reviewed the cases of five children with NS (three boys, two girls, a...

Introduction: Lipid storage myopathy (LSM) is characterized by increased lipid droplets in muscle fibers. Primary carnitine deficiency is the most frequent cause of LSM, clinical presentation ranging from asymptomatic to progressive muscle weakness or cardiomyopathy, carnitine supplementation being effective with remission of symptoms.Case report: In February 2007 R.A. born in 1996 presented progressive muscle weakness with elevated muscular enzymes (LDH...