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| Disease found: | 17-alpha-hydroxylase deficiency |
| Current as of: | Mon Sep 16 2024 |
| Disease Overview: | A very rare form of congenital adrenal hyperplasia caused by a deficicency of 17a-hydroxylase resulting in glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension. |
| Signs and Symptoms: | Hormone Imbalance (Abnormal circulating dehydroepiandrosterone concentration, Decreased serum testosterone, Increased circulating gonadotropin, Adrenocorticotropic hormone excess, Decreased circulating aldosterone) and Physical Structures Abnormalities (Delayed puberty, Hypertension, Congenital adrenal hyperplasia, Bilateral cryptorchidism, Gynecomastia) [more info] |
| Diagnosis: | ACTH stimulation test for diagnosis and subtype. [more info] |
| Treatment: | glucocorticoid and sex steroid replacement. [more info] |
| Clinical Management: | supportive tx while on glucocorticoid therapy. [more info] |
| Referral: | A network of physicians that specialize in this condition recommended by NADF. Referral to Medical Genetics Department, if available. TeleRare Health for virtual care and consults is also recommended. |
| Clinical Trials: | Current clinical trials found here |