ArticleFrontiers in pediatrics2024
Congenital isolated adrenocorticotropic hormone deficiency in a newborn caused by
Article in Frontiers in pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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 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, PubMed, Embase, and Web of Science. The clinical and genetic characteristics of children from these other publications were summarized. The newborn boy with IAD was admitted to our hospital with poor mental response, feeding difficulties, hypoglycemia, and jaundice. The brain and adrenal MRI results were normal. Clinical whole exome sequencing showed that the boy carried compound heterozygous variants in the Conclusion: IAD from Clinical Trial Registration: identifier (2024A-796).
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