21-Hydroxylase deficiency presenting as massive bilateral adrenal masses in the seventh decade of life.
A 72-year-old woman was found to have massive bilateral adrenal masses on computed tomography and was diagnosed with 21-hydroxylase deficiency (21-OHD) based on endocrinological findings. Physical examination revealed no abnormalities except markedly short stature. She was diagnosed with 21-OHD because she had an elevated serum 17alpha-hydroxyprogesterone (17-OHP) level which significantly decreased in response to dexamethasone. Percutaneous CT-guided biopsy and later autopsy confirmed that the adrenal masses were due to adrenocortical hyperplasia. Analysis of the CYP21 gene revealed that the patient was a compound heterozygote for the Ile-172-->Asn mutation in exon 4 and the 8-bp deletion in exon 3. Simple virilizing 21-OHD (SV) would be predicted from this genotype. She had few symptoms associated with 21-OHD except for markedly short stature, but the serum 17-OHP level was higher than that of typical nonclassical form of 21-OHD and near to that of typical SV. This finding was confirmed by analysis of the CYP21 gene. From these results, we report that when adrenal masses are incidentally detected, 21-OHD should be ruled out to avoid excessive examination and surgery on the suspicion of adrenal carcinoma.
Abo
K
K
Department of Public Health, Kobe University School of Medicine, Japan.
Sumino
K
K
Nishio
H
H
Hozumi
T
T
Ishida
Y
Y
Fujieda
K
K
Tajima
T
T
Kazumi
T
T
D000302:Adrenal Cortex / Q000000981:diagnostic imaging / Q000473:pathology; D000312:Adrenal Hyperplasia, Congenital / Q000000981:diagnostic imaging / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D000368:Aged; D017809:Fatal Outcome; D005260:Female; D017353:Gene Deletion; D006801:Humans; D009154:Mutation / Q000235:genetics; D013255:Steroid 21-Hydroxylase / Q000235:genetics; D014057:Tomography, X-Ray Computed
D013255:Steroid 21-Hydroxylase