IMPE Abstracts

Introduction: Adrenoleukodystrophy (ALD) is an X linked disorder caused by mutations in the ABCD1 gene which determine a peroxisomal defect that increases plasmatic levels of Very Long Chain Fatty Acids (VLCFA). This disease has an incidence of 1/20.000 births, with onset between 4 and 12 years old. It causes an irreversible loss of myelin in the brain and cerebellum and a progressive dysfunction of the adrenal gland that leads to adrenal insufficiency. Clinic...

Introduction: Abnormal uterine bleeding (AUB) as excessive menstrual blood loss, affects the patient's quality of life. The causes of AUB in adolescence are non-structural and within these by far the disovulation secondary to immature hypotalamus-gonadal hypophysis (90%).Clinical Case: 14-year-old. menarche at 10 yo, oligo-amenorrhea. She presents with AUB of 15 days of evolution and functional anemic syndrome. From...