Insights into genetic and clinical profiles of triple A syndrome in Sudanese children
Genotype-phenotype analyses highlighted significant variability in symptom occurrence, age of onset, and disease severity. Consistent with the high consanguinity rates in Sudan, most mutations (95%) occurred in a homozygous state. In conclusion, triple A syndrome is likely underdiagnosed in Sudan and exhibits significant variability in phenotypic presentation even among affected individuals within the same family or mutation.
Authors
- Salwa Musa (ORCID: https://orcid.org/0000-0002-0868-0915)
- Samar S. Hassan (ORCID: https://orcid.org/0000-0002-9741-3383)
- Eliane Streiff
- Omer Babiker (ORCID: https://orcid.org/0000-0002-8782-3813)
- Katrin Koehler (ORCID: https://orcid.org/0000-0002-9407-1410)
- Frederik J. de Lange (ORCID: https://orcid.org/0000-0002-7590-9230)
- Areej A. Ibrahim (ORCID: https://orcid.org/0009-0006-0724-5950)
- Friederike Quitter (ORCID: https://orcid.org/0000-0002-7352-5866)
- Mohamed Ahmed Abdullah (ORCID: https://orcid.org/0000-0001-7121-8216)
- Angela Huebner (ORCID: https://orcid.org/0000-0003-1338-5192)
- Hiba A. Elshafie
Institutions
- University of Khartoum (SD)
- Al-Neelain University (SD)
- Omdurman Islamic University (SD)
- Ibn Sina Hospital (KW)
- University Hospital Carl Gustav Carus (DE)
- Ahfad University for Women (SD)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2025-08-22
- DOI
- https://doi.org/10.3389/fendo.2025.1617552
- Primary Topic
- Adrenal Hormones and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Deutsche Forschungsgemeinschaft
- Else Kröner-Fresenius-Stiftung
- Eva Luise und Horst Köhler Stiftung