ArticleFrontiers in endocrinology2019
A Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Caused by Two Novel Mutations in the
Article in Frontiers in endocrinology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 11 citations in OpenAlex.
- [Two cases of congenital isolated adrenocorticotropic hormone deficiency due to pathogenic variants inProblemy endokrinologii · 2025Article
- Functional study of three cases with novel TBX19 variants.Endocrine · 2025Article
- Congenital isolated adrenocorticotropic hormone deficiency in a newborn caused byFrontiers in pediatrics · 2024Article
- A novelFrontiers in endocrinology · 2022Article
- Congenital Isolated ACTH Deficiency Caused byFrontiers in pediatrics · 2019Article
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Authors and funding
5 authors at 2 institutions in 1 country.
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Abstract
Congenital isolated adrenocorticotropic hormone (ACTH) deficiency (CIAD) is a rare disorder which can result in 20% mortality in the neonatal period if misdiagnosed. A 2 years and 7 months old boy was hospitalized many times because of recurrent hypoglycemia. On initial physical examination, the patient showed special appearance and indications of fast growth (≥P97). Laboratory investigations revealed low levels of ACTH and cortisol in his plasma. Except thyroid-stimulating hormone, the anterior pituitary hormone concentrations were normal. Molecular data showed compound heterozygosity for two novel mutations in the
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