Congenital lipoid adrenal hyperplasia in a Saudi infant
Congenital lipoid adrenal hyperplasia (CLAH) is characterized by a defect in the STAR protein-encoding gene that attenuates all steroidogenesis pathways. Herein, we present the first reported case in Saudi Arabia of a 46 XY, phenotypically female infant with an unfamiliar, darkened complexion compar...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Bioscientifica
2022-09-01
|
| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
| Online Access: | https://edm.bioscientifica.com/view/journals/edm/2022/1/EDM22-0294.xml |
| _version_ | 1798036936003158016 |
|---|---|
| author | Siham Hussein Subki Raghad Wadea Mohammed Hussain Abdulmoein Eid Al-Agha |
| author_facet | Siham Hussein Subki Raghad Wadea Mohammed Hussain Abdulmoein Eid Al-Agha |
| author_sort | Siham Hussein Subki |
| collection | DOAJ |
| description | Congenital lipoid adrenal hyperplasia (CLAH) is characterized by a defect in the STAR protein-encoding gene that attenuates all steroidogenesis pathways. Herein, we present the first reported case in Saudi Arabia of a 46 XY, phenotypically female infant with an unfamiliar, darkened complexion compared to the family’s skin color. Based on the clinical and biochemical findings, CLAH was diagnosed and glucocorticoid replacement therapy was initiated. As a result, we suggest that pediatricians should always investigate the possibility of adrenal insufficiency when encountering unusual dark skin. |
| first_indexed | 2024-04-11T21:19:48Z |
| format | Article |
| id | doaj.art-d0c253898d0845c899ea0fa44299d3ff |
| institution | Directory Open Access Journal |
| issn | 2052-0573 |
| language | English |
| last_indexed | 2024-04-11T21:19:48Z |
| publishDate | 2022-09-01 |
| publisher | Bioscientifica |
| record_format | Article |
| series | Endocrinology, Diabetes & Metabolism Case Reports |
| spelling | doaj.art-d0c253898d0845c899ea0fa44299d3ff2022-12-22T04:02:42ZengBioscientificaEndocrinology, Diabetes & Metabolism Case Reports2052-05732022-09-01111410.1530/EDM-22-0294Congenital lipoid adrenal hyperplasia in a Saudi infantSiham Hussein Subki0Raghad Wadea Mohammed Hussain1Abdulmoein Eid Al-Agha2Pediatrics Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi ArabiaPediatrics Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi ArabiaPediatrics Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi ArabiaCongenital lipoid adrenal hyperplasia (CLAH) is characterized by a defect in the STAR protein-encoding gene that attenuates all steroidogenesis pathways. Herein, we present the first reported case in Saudi Arabia of a 46 XY, phenotypically female infant with an unfamiliar, darkened complexion compared to the family’s skin color. Based on the clinical and biochemical findings, CLAH was diagnosed and glucocorticoid replacement therapy was initiated. As a result, we suggest that pediatricians should always investigate the possibility of adrenal insufficiency when encountering unusual dark skin.https://edm.bioscientifica.com/view/journals/edm/2022/1/EDM22-0294.xml |
| spellingShingle | Siham Hussein Subki Raghad Wadea Mohammed Hussain Abdulmoein Eid Al-Agha Congenital lipoid adrenal hyperplasia in a Saudi infant Endocrinology, Diabetes & Metabolism Case Reports |
| title | Congenital lipoid adrenal hyperplasia in a Saudi infant |
| title_full | Congenital lipoid adrenal hyperplasia in a Saudi infant |
| title_fullStr | Congenital lipoid adrenal hyperplasia in a Saudi infant |
| title_full_unstemmed | Congenital lipoid adrenal hyperplasia in a Saudi infant |
| title_short | Congenital lipoid adrenal hyperplasia in a Saudi infant |
| title_sort | congenital lipoid adrenal hyperplasia in a saudi infant |
| url | https://edm.bioscientifica.com/view/journals/edm/2022/1/EDM22-0294.xml |
| work_keys_str_mv | AT sihamhusseinsubki congenitallipoidadrenalhyperplasiainasaudiinfant AT raghadwadeamohammedhussain congenitallipoidadrenalhyperplasiainasaudiinfant AT abdulmoeineidalagha congenitallipoidadrenalhyperplasiainasaudiinfant |