ESPE Yearbook of Paediatric Endocrinology

Brief summary: This narrative review summarizes the important progress made in the past 10 years in our understanding of the genetics of primary bilateral macronodular adrenal hyperplasia (PBMAH).Primary bilateral macronodular adrenal hyperplasia (PBMAH) is an adrenal cause of Cushing syndrome, attributed to the disrupted integrity of the adrenal cortex zonation that is important for steroidogenesis (1). Nowadays, the diagnosis of PBMAH ...

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...

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(7): 2985–2993. PMID: 30844071.Endogenous Cushing syndrome (CS) is a severe condition characterized by excessive glucocorticoid production (1). In 20% of cases, cortisol is secreted autonomously by the adrenal cortex (2). Adrenal CS is mostly caused by unilateral cortisol-producing adrenal ad...

To read the full abstract: J Med Genet. 2019 Mar 15. pii: jmedgenet-2018-105714. [Epub ahead of print].Paragangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumours that can arise either from the adrenal medulla (pheochromocytomas, PCC) or from extra-adrenal paraganglia (paragangliomas, PGL). PPGLs are considered to be the most heritable of human tumours with at least...

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...