ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(1): 118–126.Primary adrenal insufficiency (AI) is a major clinical manifestation in boys and men with X-linked adrenoleukodystrophy (ALD), a progressive neurodegenerative inborn error of metabolism readily diagnosed by detecting elevated plasma very-long-chain fatty acids (VLCFAs), in particular the ratios of C26:0/...

Brief Summary: This retrospective chart review included 116 patients aged 0 to 17 y (M:F 94%:6%) with X-linked adrenoleukodystrophy (ALD) managed in one expert medical center from 2006 to 2022. It assessed the impact of newborn screening (which began in the U.S. in 2013 based on measurement of a lysophosphatidylcholine derivative of a very long chain fatty acid (VLCFA) C26:0-LPC, followed if abnormal by ABCD1 gene sequencing), on the age and presentation of adrenal in...

To read the full abstract: De Psychopathol. 2019; 31(2): 419–431.Environmental stimuli, especially in the pre- and postnatal periods, can have long-lasting effects on offspring development and health. Prenatal exposure to maternal depression, anxiety or stress may alter functioning of the hypothalamic-pituitary-adrenal (HPA) axis. Here, epigenetic modifications of DNA in genes...

Brief summary: This paper describes consensus expert recommendations for the diagnosis and management of patients with Adrenoleukodystrophy.Adrenoleukodystrophy (ALD), a progressive metabolic disorder with variable and unpredictable clinical course, is caused by pathogenic variants in ABCD1 gene leading to deficient β-oxidation of saturated very-long-chain fatty acids (VLCFAs) (1, 2). Patients are asymptomatic at birth but ...