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We report the case of an infant with prolonged cholestatic jaundice due to adrenal insufficiency suspected because of a single episode of hypoglycemia occurring at birth in the absence of clinical signs of adrenal impairment. Clinical exome analysis identified a new homozygous variant in MC2R gene as a putative responsible for familial glucocorticoid deficiency (FGD). Adrenal insufficiency should always be considered in all cholestatic infants, even in the absence of specific symptoms, since early recognition and treatment is essential to prevent life-threatening events.<\/jats:p>","DOI":"10.3389\/fped.2021.767858","type":"journal-article","created":{"date-parts":[[2021,11,11]],"date-time":"2021-11-11T04:31:54Z","timestamp":1636605114000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":7,"title":["Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency"],"prefix":"10.3389","volume":"9","author":[{"given":"Fabiola","family":"Di 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