IMPE Abstracts

Introduction: The characteristic triad of symptoms in the form of fibrous bone dysplasia, skin discoloration (“café-au lait” spots) and GnRH-independent precocious puberty make up McCune-Albright syndrome (MAS). The cause of the syndrome is an activating mutation of the GNAS1 gene, which encodes the α-subunit of the Gs protein, which is a component of cell membrane receptors. We discuss the case of a patient diagnosed on the basis of t...

Introduction: Menarche praecox is the appearance of endometrial bleeding without other puberty activities. It can be an isolated symptom, as well as a preliminary phase to GnRH-independent premature puberty. Patients do not show accelerated growth or advanced skeletal maturity, and hormonal studies do not show stimulation of the hypothalamic-pituitary-gonadal axis. Its most likely cause is increased sensitivity of the endometrium to estrogen.<p class="abst...

Background: Pituitary adenomas are rarely encountered in children. If present, they are associated with a heavy clinical burden due to local compressive symptoms, the systemic effects of hormonal hypersecretion, and the need for neurosurgery, chronic medical therapy, or radiotherapy. The genetic analysis can provide essential information on the course of the disease and the best choice of treatment. Cases: Here, we describe 3 patients with acromegaly due to ge...