ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This brief and concise Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP), describes a systematic review and provides recommendations for the use of genetic screening in Cushing’s syndrome (CS).Comment: The etiology of CS may involve both germline genetic alterations (detectable in leukocyte DNA) and somatic mutations (present only in tumor DNA). Two...

J Clin Endocrinol Metab 2021; 106(3):814–825.https://pubmed.ncbi.nlm.nih.gov/33236103/Here, the authors performed a randomized, 12-week, crossover study in order to assess cortisol metabolism during dual-release hydrocortisone (DR-HC) and conventional hydrocortisone (TID-HC) therapy in patients with primary adrenal insufficiency (n=50). Healthy controls (n=124) were i...

To read the full abstract: JCI Insight. 2018; 3(8). pii: 98296Adrenocortical cells depend on cAMP/PKA signaling for growth and steroidogenesis. Several adrenal disorders manifesting with Cushing syndrome (CS) are due to activation of the PKA pathway, including Carney complex and primary pigmented nodular adrenal disease (due to germline mutations of PRKA1RA), McCune-Albright syndrome (due to ...

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(3): dgaa002. PMID: 31912137.Carney complex (CNC) is a rare multiple endocrine and nonendocrine neoplasia syndrome, described in 1985 by J. Aidan Carney (1). The diagnostic criteria include dermatologic manifestations (spotty skin pigmentation with typical periorificial distribution [known as lentigines], cutaneou...