Genetic diagnosis and clinical analysis of 17α-hydroxylase/17, 20-lyase deficiency combined with type 2 diabetes mellitus: A case report
Yumin Zhang, Yuexing Yuan · 2023
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Description
Zhang and Yuan report a hard case: a twenty-one-year-old woman with a rare hormone disorder, 17 alpha-hydroxylase deficiency, who also had type 2 diabetes. The disorder blocks the making of cortisol and sex hormones. She arrived with bouts of paralysis, high blood pressure, low potassium, and no puberty or periods. Scans showed both adrenal glands enlarged, and gene testing found a homozygous change in the CYP17A1 gene that explained the picture.
Her blood sugar and insulin were also high, with no sign of type 1 diabetes. The team treated her with a steroid, estrogen, a diabetes drug, a blood pressure drug, and calcium with vitamin D, tuning the steroid dose against her potassium. Pressure, potassium, and glucose all settled into the normal range, and her periods returned. The authors warn that the steroids such patients need can fight against diabetes control and bone health.
Catalog record
| CREATOR | Yumin Zhang, Yuexing Yuan |
|---|---|
| YEAR | 2023 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 21 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |