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Case Reports
. 2024 Oct;63(9):1318-1320.
doi: 10.1177/00099228231222714. Epub 2024 Jan 27.

A Pitfall of Adrenal Hypoplasia Congenita

Jiro Abe  1   2 , Junko Tsubaki  2 , Kazuhiro Shimura  3 , Tomonobu Hasegawa  3
Affiliations
Case Reports

A Pitfall of Adrenal Hypoplasia Congenita

Jiro Abe et al. Clin Pediatr (Phila). 2024 Oct.
No abstract available

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Conflict of interest statement

Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Figure 1.
Figure 1.
Patient’s appearance. Note. Hyperpigmentation is global and most noticeable on the scrotum.
Figure 2.
Figure 2.
Sanger sequencing. Note.Patient’s chromatogram (middle) showed the variant of NROB1 (NM_000475) as c.548delG: p. Gly183Val fs*81. This variant turned out to derive from Mother (bottom), while Father (top) had no deletion of the codon G (Black).
See this image and copyright information in PMC

References

    1. Reutens AT, Achermann JC, Ito M, et al.. Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. J Clin Endocrinol Metab. 1999;84:504-511. - PubMed
    1. Landau Z, Hanukoglu A, Sack J, et al.. Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations. Clin Endocrinol. 2010;72:448-454. - PubMed
    1. Sikl H. Addison’s disease due to congenital adrenal hypoplasia of the adrenals in an infant aged 33 days. J Pathol Bactertiol. 1948;60:323-326. - PubMed
    1. National Library of Medicine. ClinVar. https://www.ncbi.nlm.nih.gov/clinvar/variation/503698/?new_evidence=false - PubMed
    1. Varsome.com. https://varsome.com/variant/hg38/rs1555973117?

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