Autopsy and genetic diagnosis of 21-hydroxylase deficiency with bilateral testicular tumors in a case under no medication for over one year.
The autopsy findings of an adult patient with 21-hydroxylase deficiency are presented. Genetic analysis of the 21-hydroxylase gene (CYP21A2) was performed for accurate diagnosis of congenital adrenal hyperplasia (CAH), and bilateral testicular tumors were characterized. We report a 29-year-old Japanese man who was diagnosed with CAH (21-hydroxylase deficiency) in infancy and had continued steroid therapy until the age of 28. However, for more than one year, he had not been treated for CAH and was found dead. In the medico-legal autopsy findings, both adrenal glands were enlarged, and hypertrophy of adrenal cortices and bilateral testicular tumors positive for melan-A were observed. Genomic DNA was prepared from cervical lymph nodes collected during autopsy, and CYP21A2 was PCR amplified and sequenced directly using newly designed primers. From the morphological findings, the bilateral testicular tumors were considered to be adrenogenital syndrome (TTAGS). Through the whole sequence of CYP21A2, the intron 2 splice mutation (656)A to (656)G was found. TTAGS were thought to be adrenal rests enlarged by ACTH stimulus. From the autopsy findings and the result of genetic analysis, he was diagnosed with the salt-wasting form of 21-hydroxylase deficiency and his cause of death was presumed to be heart failure based on abnormal electrolytes.
Mizukami
Hajime
H
Department of Forensic Medicine, Tokyo Medical University, Shinjyuku 6-1-1, Shinjyuku-ku, Tokyo 160-8402, Japan. mizukamh@tokyo-med.ac.jp
Hamamatsu
Akihiko
A
Mori
Shinjiro
S
Hara
Shuichi
S
Kuroda
Masahiko
M
Nagai
Tomonori
T
Fukunaga
Tatsushige
T
D000311:Adrenal Glands / Q000473:pathology*; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D044466:Asian People; D049429:Forensic Pathology; D006333:Heart Failure / Q000209:etiology; D006801:Humans; D006984:Hypertrophy / Q000473:pathology; D007438:Introns / Q000235:genetics; D008297:Male; D017354:Point Mutation; D013255:Steroid 21-Hydroxylase / Q000235:genetics*; D013736:Testicular Neoplasms / Q000209:etiology / Q000473:pathology*; D014883:Water-Electrolyte Imbalance / Q000150:complications / Q000209:etiology
C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase