Congenital isolated adrenocorticotropic hormone deficiency in a newborn caused by TBX19 mutation: a case report and literature review.

ABSTRACT:

Background

To investigate the clinical phenotype, genetic characteristics, and prognosis of isolated adrenocorticotropic hormone deficiency in a newborn (IAD, OMIM 201400) caused by mutation of the TBX19 gene.

Case presentation

The clinical features, diagnosis, treatment, and prognosis of a newborn with IAD admitted to our hospital were retrospectively analyzed. The patient and his parents were also examined by whole exome sequencing. We used the terms "newborn", "child", "congenital isolated adrenocorticotropic hormone deficiency", and "TBX19" to retrieve relevant studies published up to December 2023 from the following databases: China National Knowledge Infrastructure (CNKI), Wanfang Database, Chinese Medical Journal Full-text Database, VIP database, Sinomed, PubMe

SUBMITTER: Dang Y 

PROVIDER: S-EPMC11631573 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature