Cargando…
A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period
SUMMARY: Congenital isolated adrenocorticotrophic hormone (ACTH) deficiency due to T-box transcription factor-19 (TBX19 mutation) (MIM 201400; ORPHA 199296) usually presents in the neonatal period with severe hypoglycemia, seizures, and sometimes prolonged cholestatic jaundice. We report a case with...
Autores principales: | , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bioscientifica Ltd
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9513655/ https://www.ncbi.nlm.nih.gov/pubmed/36070412 http://dx.doi.org/10.1530/EDM-22-0277 |
_version_ | 1784798117123588096 |
---|---|
author | Vieira, Inês Henriques Mourinho Bala, Nádia Ramos, Fabiana Dinis, Isabel Cardoso, Rita Caetano, Joana Serra Rodrigues, Dírcea Paiva, Isabel Mirante, Alice |
author_facet | Vieira, Inês Henriques Mourinho Bala, Nádia Ramos, Fabiana Dinis, Isabel Cardoso, Rita Caetano, Joana Serra Rodrigues, Dírcea Paiva, Isabel Mirante, Alice |
author_sort | Vieira, Inês Henriques |
collection | PubMed |
description | SUMMARY: Congenital isolated adrenocorticotrophic hormone (ACTH) deficiency due to T-box transcription factor-19 (TBX19 mutation) (MIM 201400; ORPHA 199296) usually presents in the neonatal period with severe hypoglycemia, seizures, and sometimes prolonged cholestatic jaundice. We report a case with an unusual presentation that delayed the diagnosis. A 9-month-old female patient with no relevant personal history was admitted to the emergency department due to a hypoglycemic seizure in the context of acute gastroenteritis. There was rapid recovery after glucose administration. At age 4, she presented with tonic-clonic seizures, fever, and gastrointestinal symptoms and came to need support in an intensive care unit. Low serum cortisol was documented and hydrocortisone was initiated. After normalization of inflammatory parameters, the patient was discharged with hydrocortisone. The genetic investigation was requested and compound heterozygous mutations in TBX19 were detected. This is a rare case of presentation of TBX19 mutation outside the neonatal period and in the setting of acute disease, which presented a diagnostic challenge. LEARNING POINTS: Congenital isolated adrenocorticotrophic hormone deficiency due to TBX19 mutation usually presents with neonatal hypoglycemia and prolonged cholestatic jaundice. An uneventful neonatal period, however, does not exclude the diagnosis as the disease may be asymptomatic at this stage. In the context of idiopathic hypoglycemia, even in the context of acute disease, hypocortisolism must always be excluded. Genetic evaluation should be performed in cases of congenital central hypocortisolism to allow proper counselling. |
format | Online Article Text |
id | pubmed-9513655 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Bioscientifica Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-95136552022-09-28 A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period Vieira, Inês Henriques Mourinho Bala, Nádia Ramos, Fabiana Dinis, Isabel Cardoso, Rita Caetano, Joana Serra Rodrigues, Dírcea Paiva, Isabel Mirante, Alice Endocrinol Diabetes Metab Case Rep Unique/Unexpected Symptoms or Presentations of a Disease SUMMARY: Congenital isolated adrenocorticotrophic hormone (ACTH) deficiency due to T-box transcription factor-19 (TBX19 mutation) (MIM 201400; ORPHA 199296) usually presents in the neonatal period with severe hypoglycemia, seizures, and sometimes prolonged cholestatic jaundice. We report a case with an unusual presentation that delayed the diagnosis. A 9-month-old female patient with no relevant personal history was admitted to the emergency department due to a hypoglycemic seizure in the context of acute gastroenteritis. There was rapid recovery after glucose administration. At age 4, she presented with tonic-clonic seizures, fever, and gastrointestinal symptoms and came to need support in an intensive care unit. Low serum cortisol was documented and hydrocortisone was initiated. After normalization of inflammatory parameters, the patient was discharged with hydrocortisone. The genetic investigation was requested and compound heterozygous mutations in TBX19 were detected. This is a rare case of presentation of TBX19 mutation outside the neonatal period and in the setting of acute disease, which presented a diagnostic challenge. LEARNING POINTS: Congenital isolated adrenocorticotrophic hormone deficiency due to TBX19 mutation usually presents with neonatal hypoglycemia and prolonged cholestatic jaundice. An uneventful neonatal period, however, does not exclude the diagnosis as the disease may be asymptomatic at this stage. In the context of idiopathic hypoglycemia, even in the context of acute disease, hypocortisolism must always be excluded. Genetic evaluation should be performed in cases of congenital central hypocortisolism to allow proper counselling. Bioscientifica Ltd 2022-08-18 /pmc/articles/PMC9513655/ /pubmed/36070412 http://dx.doi.org/10.1530/EDM-22-0277 Text en © The authors https://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. (https://creativecommons.org/licenses/by-nc-nd/4.0/) . |
spellingShingle | Unique/Unexpected Symptoms or Presentations of a Disease Vieira, Inês Henriques Mourinho Bala, Nádia Ramos, Fabiana Dinis, Isabel Cardoso, Rita Caetano, Joana Serra Rodrigues, Dírcea Paiva, Isabel Mirante, Alice A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period |
title | A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period |
title_full | A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period |
title_fullStr | A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period |
title_full_unstemmed | A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period |
title_short | A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period |
title_sort | serious and unusual presentation of congenital isolated acth deficiency due to tbx19 mutation, beyond the neonatal period |
topic | Unique/Unexpected Symptoms or Presentations of a Disease |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9513655/ https://www.ncbi.nlm.nih.gov/pubmed/36070412 http://dx.doi.org/10.1530/EDM-22-0277 |
work_keys_str_mv | AT vieiraineshenriques aseriousandunusualpresentationofcongenitalisolatedacthdeficiencyduetotbx19mutationbeyondtheneonatalperiod AT mourinhobalanadia aseriousandunusualpresentationofcongenitalisolatedacthdeficiencyduetotbx19mutationbeyondtheneonatalperiod AT ramosfabiana aseriousandunusualpresentationofcongenitalisolatedacthdeficiencyduetotbx19mutationbeyondtheneonatalperiod AT dinisisabel aseriousandunusualpresentationofcongenitalisolatedacthdeficiencyduetotbx19mutationbeyondtheneonatalperiod AT cardosorita aseriousandunusualpresentationofcongenitalisolatedacthdeficiencyduetotbx19mutationbeyondtheneonatalperiod AT caetanojoanaserra aseriousandunusualpresentationofcongenitalisolatedacthdeficiencyduetotbx19mutationbeyondtheneonatalperiod AT rodriguesdircea aseriousandunusualpresentationofcongenitalisolatedacthdeficiencyduetotbx19mutationbeyondtheneonatalperiod AT paivaisabel aseriousandunusualpresentationofcongenitalisolatedacthdeficiencyduetotbx19mutationbeyondtheneonatalperiod AT mirantealice aseriousandunusualpresentationofcongenitalisolatedacthdeficiencyduetotbx19mutationbeyondtheneonatalperiod AT vieiraineshenriques seriousandunusualpresentationofcongenitalisolatedacthdeficiencyduetotbx19mutationbeyondtheneonatalperiod AT mourinhobalanadia seriousandunusualpresentationofcongenitalisolatedacthdeficiencyduetotbx19mutationbeyondtheneonatalperiod AT ramosfabiana seriousandunusualpresentationofcongenitalisolatedacthdeficiencyduetotbx19mutationbeyondtheneonatalperiod AT dinisisabel seriousandunusualpresentationofcongenitalisolatedacthdeficiencyduetotbx19mutationbeyondtheneonatalperiod AT cardosorita seriousandunusualpresentationofcongenitalisolatedacthdeficiencyduetotbx19mutationbeyondtheneonatalperiod AT caetanojoanaserra seriousandunusualpresentationofcongenitalisolatedacthdeficiencyduetotbx19mutationbeyondtheneonatalperiod AT rodriguesdircea seriousandunusualpresentationofcongenitalisolatedacthdeficiencyduetotbx19mutationbeyondtheneonatalperiod AT paivaisabel seriousandunusualpresentationofcongenitalisolatedacthdeficiencyduetotbx19mutationbeyondtheneonatalperiod AT mirantealice seriousandunusualpresentationofcongenitalisolatedacthdeficiencyduetotbx19mutationbeyondtheneonatalperiod |