ESPE Abstracts

Background: Pseudohypoaldosteronism (PHPA1) is a disorder of impaired renal electrolytes re-absorption and excretion. Primary PHPA1 has two clinically and genetically distinct forms: (i) Renal autosomal dominant form, which involves a mutation in the mineralocorticoid receptor; (ii) Systemic autosomal recessive form, which involves a mutation in the epithelial sodium channel. PHPA1 can be also transient secondary to urinary tract infections (UTI)/malformations.<p class="ab...

Background: Mitochondrial disorders resulting from single large-scale mitochondrial DNA (mtDNA) deletions (SLSMDs) are a group of non-inherited congenital diseases that lead to three clinically overlapping syndromes: Pearson syndrome (PS), Kearns-Sayre syndrome (KSS), and chronic progressive external ophthalmoplegia (PEO). Although many reports have addressed endocrine abnormalities in patients with SLSMD, there hasn't been an in-depth study on these abno...