Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) for the diagnosis of Cushing's syndrome: Genetics of Cushing's syndrome

Laetitia Martinerie; Jérôme Bouligand; Marie-Odile North; Jérôme Bertherat; Guillaume Assié; Stéphanie Espiard

doi:10.1016/j.ando.2024.01.005

Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) for the diagnosis of Cushing's syndrome: Genetics of Cushing's syndrome

Ann Endocrinol (Paris). 2024 Jan 20:S0003-4266(24)00005-2. doi: 10.1016/j.ando.2024.01.005. Online ahead of print.

Authors

Laetitia Martinerie¹, Jérôme Bouligand², Marie-Odile North³, Jérôme Bertherat⁴, Guillaume Assié⁴, Stéphanie Espiard⁵

Affiliations

¹ Department of Pediatric Endocrinology, CHU Robert-Debré, AP-HP, Paris, France.
² Faculté de médecine Paris-Saclay, Inserm Unit UMRS1185 Endocrine Physiology and Physiopathology, Paris, France.
³ Department of Genetics and Molecular Biology, hôpital Cochin, AP-HP, University of Paris, Paris, France.
⁴ Endocrinology Department, centre de référence maladies rares de la surrénale (CRMRS), hôpital Cochin, AP-HP, University of Paris, Paris, France.
⁵ Service d'endocrinologie, diabétologie, métabolisme et nutrition, CHU de Lille, 59000 Lille, France. Electronic address: stephanie.espiard@live.fr.

PMID: 38253221
DOI: 10.1016/j.ando.2024.01.005

Abstract

Cushing's syndrome is due to overproduction of cortisol, leading to abnormal and prolonged exposure to cortisol. The most common etiology is Cushing disease, while adrenal causes are rarer. Knowledge of the genetics of Cushing's syndrome, and particularly the adrenal causes, has improved considerably over the last 10 years, thanks in particular to technical advances in high-throughput sequencing. The present study, by a group of experts from the French Society of Endocrinology and the French Society of Pediatric Endocrinology and Diabetology, reviewed the literature on germline genetic alterations leading to a predisposition to develop Cushing's syndrome. The review led to a consensus statement on genetic screening for Cushing disease and adrenal Cushing's syndrome.

Keywords: Cushing disease; Cushing's syndrome; Genetics.

Publication types

Review