IMPE Abstracts

Congenital adrenal hyperplasia (CAH) is a monogenic autosomal recessive disorder that may involve different steroidogenic enzymes. POR (P450 oxidoreductase) deficiency is a rare variant of unknown incidence and is the most complex form of CAH. POR is an electron-donating enzyme for CYP17A1, CYP21A2, and CYP19A1. Clinically it can be observed as a combined deficiency of CYP17A1, CYP21A2, and secondary to the donating defect to aromatase, the mother can become virilized during p...

Background: Paragangliomas (PGL) and pheochromocytomas (PHEO) are rare neuroendocrine tumors in children, derived from chromaffin cells in the adrenal medulla or associated with paravertebral ganglia, and produce dopamine and catecholamines (norepinephrine, and epinephrin). Case presentation: A previously healthy 13-year-old girl, developed a severe pulsating headache associated with tachycardia, sweating, weight loss an...

Background: Recent research has indicated an association between patients with CAH and higher incidence of obesity associated with cardiovascular risk. Individuals with congenital adrenal hyperplasia suffers from 21-hydroxylase deficiency, which leads to lack of cortisol and aldosterone, causing androgen excess. Early diagnosis and treatment are essential to prevent morbidity and mortality, both of which are increased on CAH patients in comparison to populatio...

Background: Aldosterone synthase is a cytochrome P450 enzyme encoded by the CYP11B2 gene and responsible of the conversion of dehydrocorticosterone to aldosterone through three enzymatic steps: addition of the 11b-hydroxyl group to form corticosterone, 18-hydroxylation to form 18-hydroxycorticosterone, and 18-dehydrogenation to form aldosterone. Two types of aldosterone synthase deficiency have been reported: type I related to defects in 18-hydroxilation, and ...

Congenital Lipoid Adrenal Hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia. It is caused by mutation in the steroidogenic acute regulatory protein (StAR) gene, which can be of autosomal recessive inheritance. A 6-year-old girl, with a background of recurrent febrile seizure, presented with history of seizure, preceded by 1-day history of fever. On presentation, she had reduced consciousness, hypoglycemia with refractory hypotensive shock. She was in...

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...