Clinical insights of the <i>TBX19</i> C.856 C>T variant: a case report and literature review on neonatal isolated ACTH deficiency
Variants in <i>TBX19</i>, especially the c.856 C>T mutation, are a predominant cause of neonatal-onset adrenal insufficiency disorder (IAD). Prompt assessment of adrenal function in neonates presenting with hypoglycemia and cholestasis is essential for accurate diagnosis and timely initiation of hydrocortisone replacement therapy. Genetic assessment is essential for improving patient outcomes and advancing our comprehension of the relationship between genotype and phenotype.
Authors
- Ayşegül Ceran (ORCID: https://orcid.org/0000-0002-3869-1340)
- Zehra Aycan (ORCID: https://orcid.org/0000-0003-4584-2976)
- Elif Özsu (ORCID: https://orcid.org/0000-0002-3459-5781)
- Zeynep Şıklar (ORCID: https://orcid.org/0000-0003-0921-2694)
- Merih Berberoğlu (ORCID: https://orcid.org/0000-0003-3102-0242)
- Sirmen Kızılcan Çetin (ORCID: https://orcid.org/0000-0001-7397-3071)
Institutions
- Ankara University (TR)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-09-24
- DOI
- https://doi.org/10.1515/jpem-2025-0381
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00