A Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Caused by Two Novel Mutations in the TBX19 Gene

In conclusion, we reported a CIAD case with two novel mutations that presented with recurrent seizures and hypoglycemia. When an infant shows recurrent hypoglycemia, with seizures and low plasma levels of ACTH and cortisol, CIAD should be take into consideration, even if the patient has other hormonal abnormalities. Genetic analysis is a powerful tool to confirm the diagnosis, which helped us to identify two novel mutations in our patient. In addition, the lack of an obvious circadian rhythm of ACTH and cortisol before treatment may be a specific characteristic of this disease. Ethics Statement This study was carried out in accordance with the recommendations of Declaration of Helsinki, ethics committee of Chinese PLA General Hospital with written informed consent from all subjects. All subjects gave written informed consent in accordance with the Declaration of Helsinki. The protocol was approved by the ethics committee of Chinese PLA General Hospital. Author Contributions ZT and ZP managed and followed up the case. KW collected the data and wrote the manuscript. ZL supervised the management and follow up of the case. MY supervised the management and follow up of the case, and the writing of the article. All the authors revised and approved the final manuscript and agreed to be accountable for the content of the work. Funding This case report was supported by The National Key Research and Development Program of China (2016YFC1000707). Conflict of Interest Statement T...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research