A rare cause of primary adrenal insufficiency
Adrenal hypoplasia congenita (AHC) is a rare inherited condition due to the failure of the adult zone of the adrenal cortex to develop despite normal development of its foetal counterpart. Affected patients are usually asymptomatic at birth but will present with clinical features of acute adrenal in...
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| Format: | Article |
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Universiti Putra Malaysia
2021
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| Online Access: | http://psasir.upm.edu.my/id/eprint/95993/ |
| _version_ | 1848862272240222208 |
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| author | Zaharudin, Mohd Radzli Thambiah, Subashini C. Samsudin, Intan Nureslyna Abdul Hamid, Hanisah |
| author_facet | Zaharudin, Mohd Radzli Thambiah, Subashini C. Samsudin, Intan Nureslyna Abdul Hamid, Hanisah |
| author_sort | Zaharudin, Mohd Radzli |
| building | UPM Institutional Repository |
| collection | Online Access |
| description | Adrenal hypoplasia congenita (AHC) is a rare inherited condition due to the failure of the adult zone of the adrenal cortex to develop despite normal development of its foetal counterpart. Affected patients are usually asymptomatic at birth but will present with clinical features of acute adrenal insufficiency during early infancy. It is clinically indistinguishable from the more common congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Here, we report a case of a one-month-old male infant with primary adrenal insufficiency (PAI) whose initial laboratory investigations revealed hyponatraemia and severe hyperkalaemia. The early onset of PAI with the absence of ambiguous genitalia and low baseline and adrenocorticotropic-stimulated 17-hydroxyprogesterone and undetectable dehydroepiandrosterone sulfate levels, suggest the possibility of AHC in this infant. Genetic analysis is crucial to confirm the diagnosis of this condition and to differentiate from CAH as their prognoses and management differ. |
| first_indexed | 2025-11-15T13:14:23Z |
| format | Article |
| id | upm-95993 |
| institution | Universiti Putra Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-15T13:14:23Z |
| publishDate | 2021 |
| publisher | Universiti Putra Malaysia |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | upm-959932023-03-09T03:26:35Z http://psasir.upm.edu.my/id/eprint/95993/ A rare cause of primary adrenal insufficiency Zaharudin, Mohd Radzli Thambiah, Subashini C. Samsudin, Intan Nureslyna Abdul Hamid, Hanisah Adrenal hypoplasia congenita (AHC) is a rare inherited condition due to the failure of the adult zone of the adrenal cortex to develop despite normal development of its foetal counterpart. Affected patients are usually asymptomatic at birth but will present with clinical features of acute adrenal insufficiency during early infancy. It is clinically indistinguishable from the more common congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Here, we report a case of a one-month-old male infant with primary adrenal insufficiency (PAI) whose initial laboratory investigations revealed hyponatraemia and severe hyperkalaemia. The early onset of PAI with the absence of ambiguous genitalia and low baseline and adrenocorticotropic-stimulated 17-hydroxyprogesterone and undetectable dehydroepiandrosterone sulfate levels, suggest the possibility of AHC in this infant. Genetic analysis is crucial to confirm the diagnosis of this condition and to differentiate from CAH as their prognoses and management differ. Universiti Putra Malaysia 2021 Article PeerReviewed Zaharudin, Mohd Radzli and Thambiah, Subashini C. and Samsudin, Intan Nureslyna and Abdul Hamid, Hanisah (2021) A rare cause of primary adrenal insufficiency. Malaysian Journal of Medicine and Health Sciences, 17 (suppl.10). pp. 1-9. ISSN 2636-9346 https://medic.upm.edu.my/jurnal_kami/volume_17_2021/mjmhs_vol17_supp_10_december_2021-64369 |
| spellingShingle | Zaharudin, Mohd Radzli Thambiah, Subashini C. Samsudin, Intan Nureslyna Abdul Hamid, Hanisah A rare cause of primary adrenal insufficiency |
| title | A rare cause of primary adrenal insufficiency |
| title_full | A rare cause of primary adrenal insufficiency |
| title_fullStr | A rare cause of primary adrenal insufficiency |
| title_full_unstemmed | A rare cause of primary adrenal insufficiency |
| title_short | A rare cause of primary adrenal insufficiency |
| title_sort | rare cause of primary adrenal insufficiency |
| url | http://psasir.upm.edu.my/id/eprint/95993/ http://psasir.upm.edu.my/id/eprint/95993/ |