ESPE Abstracts

Background: DAX-1 mutation is a rare genetic cause of adrenal insufficiency also causing hypogonadotropic hypogonadism.Case presentation: The patient was born to a G1P1 mother. At the age of 1 month he developed acidosis, hyponatremia, hyperkalemia, diagnosed with congenital adrenal hyperplasia and started on hydrocortisone and fludrocortisone. No CYP 21 mutation was identified, fludrocortisone was continued for presumed hypoaldosteronism, hydrocortisone...

Introduction and Purpose: Congenital Adrenal Hyperplasia (CAH) encompasses a group of genetic disorders arising from enzyme deficiencies crucial for the biosynthesis of cortisol and mineralocorticoids, resulting in decreased cortisol and increased androgen production. Standard treatment involves oral hydrocortisone administration 2-3 times daily. However, this treatment often fails to mimic the circadian rhythm and effectively suppress androgen production, esp...

The proband is a 12 yr old Caucasian European girl with grade 3 obesity, developmental delay and hyperphagia. She was born at term via an uncomplicated pregnancy and exhibited neonatal hypotonia, difficulty feeding, failure to thrive and delayed attenuation of milestones. At the age of 2 years she started developing hyperphagia and rapid excessive weight gain. Molecular analysis for Prader Willi syndrome and array CGH were negative. At the age of 10 yrs she was diagnosed with ...