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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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2021-11-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2021.767858/full |
| _version_ | 1828950243550429184 |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-14T06:19:52Z |
| format | Article |
| id | doaj.art-02e38417cc2f4d5083a6607124b47c9e |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-14T06:19:52Z |
| publishDate | 2021-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-02e38417cc2f4d5083a6607124b47c9e2022-12-21T23:13:51ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602021-11-01910.3389/fped.2021.767858767858Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal InsufficiencyFabiola Di Dato0Donatella Capalbo1Rita Mirra2Francesca Del Vecchio Blanco3Mariacarolina Salerno4Raffaele Iorio5Section of Pediatrics, Department of Translational Medical Sciences, University of Naples Federico II, Naples, ItalySection of Pediatrics, Department of Translational Medical Sciences, University of Naples Federico II, Naples, ItalySection of Pediatrics, Department of Translational Medical Sciences, University of Naples Federico II, Naples, ItalyDepartment of Precision Medicine, University of Campania L. Vanvitelli, Naples, ItalySection of Pediatrics, Department of Translational Medical Sciences, University of Naples Federico II, Naples, ItalySection of Pediatrics, Department of Translational Medical Sciences, University of Naples Federico II, Naples, ItalyNeonatal 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.https://www.frontiersin.org/articles/10.3389/fped.2021.767858/fullcortisolfamilial glucocorticoid deficiency (FGD)hypoglycemialiverjaundice |
| spellingShingle | 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 Frontiers in Pediatrics cortisol familial glucocorticoid deficiency (FGD) hypoglycemia liver jaundice |
| title | 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_short | Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency |
| title_sort | case report neonatal cholestasis as early manifestation of primary adrenal insufficiency |
| topic | cortisol familial glucocorticoid deficiency (FGD) hypoglycemia liver jaundice |
| url | https://www.frontiersin.org/articles/10.3389/fped.2021.767858/full |
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