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PubMed · 2815736

[Addison's disease as a continuously difficult diagnostic problem].

G Goćwiński·A Grzelka
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Abstract

A case of latent adrenocortical insufficiency is described, which had various masks in the initial period. The progressing course of the disease and two operations as well as other trials of elucidating the cause of the disease failed to give the final diagnosis. Only an adrenocortical crisis during virus hepatitis confirmed the earlier suspicion of Addison's disease.

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Addison DiseaseAdrenal Cortex Function TestsAdultDiagnosis, DifferentialFemaleHepatitis, Viral, HumanHumansCase ReportsEnglish AbstractJournal Article

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G Goćwiński, A Grzelka. 1989-01-15. [Addison's disease as a continuously difficult diagnostic problem].. https://pubmed.ncbi.nlm.nih.gov/2815736/

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We report two sibling cases of Addison's disease without any evidence of sexual precocity, adrenal hyperplasia, or autoimmune disease. The diagnosis of primary adrenocortical insufficiency was made at the age of 5 in the younger brother and at the age of 18 in the elder brother. The younger brother had been inactive during infancy and had diffuse skin pigmentation without abnormal external genitalia, while the elder brother had been healthy until the age of 17 when he noticed skin pigmentation and small testes. Both boys had delayed puberty due to hypogonadotropic hypogonadism. The diagnosis of adrenal hypoplasia congenita (AHC) was established by genetic analysis of DAX-1 gene (dosage-sensitive sex reversal-adrenal hypoplasia gene on the X chromosome, gene 1) with the same single frameshift mutation (305delG). However, yet-uncharacterized epigenetic, nongenetic and/or genetic factors other than the DAX-1 gene may be responsible for the differential onset of AHC in these sibling cases.

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PURPOSE: To describe CT morphology of untreated adrenal tuberculosis during the different stages of the natural history of the disease and to evaluate the diagnostic implications of CT features. MATERIALS AND METHODS: We retrospectively evaluated CT features in 42 patients with documented adrenal tuberculosis for the location, size, morphology, and enhancement patterns shown on CT images. The clinical duration were correlated with the CT features. RESULTS: Of the 42 patients with untreated adrenal tuberculosis, bilaterally enlarged adrenal glands were revealed in 38 cases (91%), unilaterally enlarged in 3 cases (7%), and normal size in 1 case (2%). Of the 41 cases (98%) with enlargement, mass-like enlargement was seen in 20 cases (49%) and enlargement with preserved contours in 21 cases (51%). Peripheral rim enhancement presented in 22 cases (52%) on contrast-enhanced CT. Non-enhanced CT scan revealed calcification in 21 cases (50%). As the duration of Addison's disease increased, the presence of calcification and contour preservation increased concomitantly (p<0.001), whereas peripheral rim enhancement and mass-like enlargement decreased concomitantly on CT images (p<0.001). CONCLUSION: CT may be helpful in diagnosing adrenal tuberculosis when clinically suspected, and CT features are correlated to the clinical duration of Addison's disease.

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