ESPE Abstracts

Introduction: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by mutations in the ABCD1 gene localized on Xq28, affecting the adrenal cortex, nervous system, and testicular functions. It is characterized by the deficiency in transporting very long-chain fatty acids (VLCFA). We present a case of a boy diagnosed with adrenoleukodystrophy and discuss the importance of family screening, as his sibling was diagnosed th...

Introduction: Rathke's cleft cyst (RCC) is a non-neoplastic epithelial lesion of the sellar or suprasellar region. Although most RCC cases are asymptomatic, they can present with headache, visual defects, and endocrine dysfunction. We present a case diagnosed with a giant RCC postoperatively, characterized by short stature and multiple pituitary hormone deficiencies.Case: A 15-year-old male, who came with complaints...

Introduction: Central adrenal insufficiency due to isolated adrenocorticotropic hormone (ACTH) deficiency is rare. The etiology often involves homozygous or compound heterozygous mutations in genes related to the production and terminal differentiation of proopiomelanocortin (POMC). POMC deficiency is characterized by central adrenal insufficiency, early-onset obesity, red hair, and reduced skin pigmentation. Here, we present a case diagnosed with POMC deficie...