Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency

Neonatal cholestasis (NC) may be due to multiple surgical and non-surgical causes, some of which are potentially fatal. The list of potential causes of NC is long, and the systematic search for each of them is challenging in infants, especially when overt signs of underlying disease are lacking. End...

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Autores principales:	Fabiola Di Dato, Donatella Capalbo, Rita Mirra, Francesca Del Vecchio Blanco, Mariacarolina Salerno, Raffaele Iorio
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	cortisol familial glucocorticoid deficiency (FGD) hypoglycemia liver jaundice Pediatrics RJ1-570
Acceso en línea:	https://doaj.org/article/02e38417cc2f4d5083a6607124b47c9e
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spelling	oai:doaj.org-article:02e38417cc2f4d5083a6607124b47c9e2021-11-11T09:31:40ZCase Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency2296-236010.3389/fped.2021.767858https://doaj.org/article/02e38417cc2f4d5083a6607124b47c9e2021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fped.2021.767858/fullhttps://doaj.org/toc/2296-2360Neonatal cholestasis (NC) may be due to multiple surgical and non-surgical causes, some of which are potentially fatal. The list of potential causes of NC is long, and the systematic search for each of them is challenging in infants, especially when overt signs of underlying disease are lacking. Endocrinological diseases as causes of NC are rare and sometimes misdiagnosed. 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.Fabiola Di DatoDonatella CapalboRita MirraFrancesca Del Vecchio BlancoMariacarolina SalernoRaffaele IorioFrontiers Media S.A.articlecortisolfamilial glucocorticoid deficiency (FGD)hypoglycemialiverjaundicePediatricsRJ1-570ENFrontiers in Pediatrics, Vol 9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	cortisol familial glucocorticoid deficiency (FGD) hypoglycemia liver jaundice Pediatrics RJ1-570
spellingShingle	cortisol familial glucocorticoid deficiency (FGD) hypoglycemia liver jaundice Pediatrics RJ1-570 Fabiola Di Dato Donatella Capalbo Rita Mirra Francesca Del Vecchio Blanco Mariacarolina Salerno Raffaele Iorio Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency
description	Neonatal cholestasis (NC) may be due to multiple surgical and non-surgical causes, some of which are potentially fatal. The list of potential causes of NC is long, and the systematic search for each of them is challenging in infants, especially when overt signs of underlying disease are lacking. Endocrinological diseases as causes of NC are rare and sometimes misdiagnosed. 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.
format	article
author	Fabiola Di Dato Donatella Capalbo Rita Mirra Francesca Del Vecchio Blanco Mariacarolina Salerno Raffaele Iorio
author_facet	Fabiola Di Dato Donatella Capalbo Rita Mirra Francesca Del Vecchio Blanco Mariacarolina Salerno Raffaele Iorio
author_sort	Fabiola Di Dato
title	Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency
title_short	Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency
title_full	Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency
title_fullStr	Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency
title_full_unstemmed	Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency
title_sort	case report: neonatal cholestasis as early manifestation of primary adrenal insufficiency
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/02e38417cc2f4d5083a6607124b47c9e
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Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency

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