Endocrine Abstracts

Introduction: Micronodular adrenocortical disease is a very rare cause of Cushing syndrome in children. This adrenocorticotropic hormone (ACTH)-independent form of Cushing syndrome is mostly a part of the Carney Complex, which is caused by mutations in the PRKAR1A gene (1). A young female with endogenous ACTH independent hypercorticism without the classical gene mutations in the pigmented and the non-pigmented form of micronodular adrenal disease is presented.<p c...

Background aim of the work: IGSF-1 encodes a plasma membrane immunoglobulin superfamily glycoprotein that is abundant in the pituitary and testis. Loss-of-function causes an X-linked syndrome which is mainly characterized by congenital hypothyroidism and macroorchidism.[1,2] Because of its relatively recent discovery and its very rare incidence, the time to diagnosis is often long. We present a case of IGSF1 deficiency case where it took 6 years before diagnosis was made. With...

Introduction: Male gender, adolescence and obesity are known risk factors for upper limb fractures, although the mechanism by which obesity confers the increased fracture risk is unknown. In addition, most studies investigating the influence of body fat mass on bone in adolescents have been performed in school based populations using the DXA technique, which does not take into account the material and geometric bone properties.Methods: We investigated vo...