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CASE REPORT article

Front. Pediatr.
Sec. Neonatology
Volume 12 - 2024 | doi: 10.3389/fped.2024.1493387
This article is part of the Research Topic Newborn Screening for Inborn Errors of Metabolism Volume II View all articles

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

Provisionally accepted
Yinxia Dang Yinxia Dang Juanli Zhang Juanli Zhang Fan Wang Fan Wang *
  • Lanzhou University Second Hospital, Lanzhou, China

The final, formatted version of the article will be published soon.

    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, 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 TBX19 gene.Specifically, the first exon had a novel frameshift mutation, c.240-246del(p.leu81Profs*54, NM_005149.3), and a missense mutation, c.377C>T(p.Pro126leu, NM_005149.3). The literature search found 34 additional cases from 4 Chinese-language articles and 12 English-language articles. The main clinical manifestations were hypoglycemia, jaundice, convulsions, feeding difficulties, poor mental response, hypotonia, and growth retardation. There were 24 cases with TBX19 mutations, and 19 different mutation sites. Among the 15 patients with different degrees of nervous system developmental delays, 13 initiated treatment when more than 1-year-old. Conclusion: IAD from TBX19 mutation causes nonspecific symptoms. Genetic testing is the key to diagnosis. Early diagnosis and treatment can help to improve the prognosis and prevent neurological complications.

    Keywords: Wang Fan, female, Ph.D., chief physician, master supervisor, TBX19, congenital isolated adrenocorticotropic hormone deficiency, neonatal, Hydrocortisone, prognosis

    Received: 09 Sep 2024; Accepted: 04 Nov 2024.

    Copyright: © 2024 Dang, Zhang and Wang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Fan Wang, Lanzhou University Second Hospital, Lanzhou, China

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