ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2018; 103(11): 4043–4088.Since the publication of the 2010 Endocrine Society clinical practice guideline for Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency, there have been several advances in the diagnosis and management of the condition. Neonatal diagnosis methods have been refined to use gestational age in...

To read the full abstract: J Clin Endocrinol Metab. 2018; 103(8): 2998–3009.Conventional glucocorticoid (GC) therapy in adrenal insufficiency (AI) does not fully mimic the endogenous cortisol circadian rhythm, and this may adversely affect long-term health. In the recent DREAM trial (Dual Release Hydrocortisone vs. Conventional Glucocorticoid Replacement in H...

To read the full abstract: Hum Genet. 2018; 137(11–12): 955–960.Patients with Congenital adrenal hyperplasia (CAH) suffer from multiple comorbidities, including mental illness. Studies that investigated the prevalence of psychiatric disorders in patients with CAH showed that any psychiatric diagnosis were more common in CAH subjects compared with population controls. In p...

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/...