Adrenal insufficiency in a man with non-classical 21-hydroxylase deficiency: Consequence or coincidence?
| العنوان: | Adrenal insufficiency in a man with non-classical 21-hydroxylase deficiency: Consequence or coincidence? |
|---|---|
| المؤلفون: | A. R. Glass, Perlstein Rs, Jackson Sg, Wray Hl |
| المصدر: | Journal of Endocrinological Investigation. 17:665-670 |
| بيانات النشر: | Springer Science and Business Media LLC, 1994. |
| سنة النشر: | 1994 |
| مصطلحات موضوعية: | Adult, Male, medicine.medical_specialty, Hydrocortisone, medicine.drug_class, Endocrinology, Diabetes and Metabolism, Adrenal Gland Diseases, Androgen Excess, Endocrinology, Internal medicine, Adrenal insufficiency, medicine, Humans, Congenital adrenal hyperplasia, Adrenal Hyperplasia, Congenital, biology, business.industry, 21-Hydroxylase, Adrenal crisis, medicine.disease, Mineralocorticoid, biology.protein, medicine.symptom, business, Glucocorticoid, medicine.drug |
| الوصف: | Deficiency of the adrenal enzyme 21-hydroxylase, which is required for cortisol synthesis, appears in two forms: a rare classical variant with severe enzyme deficiency, usually presenting in neonates with ambiguous genitalia (from androgen overproduction) or adrenal crisis (from glucocorticoid and mineralocorticoid underproduction), and a common (1% of the general population) non-classical variant with mild enzyme deficiency, usually presenting in young adults with findings of androgen excess but without clinical evidence of decreased steroid hormone production. We describe a 22-year-old man who had clinical and biochemical findings consistent with adrenal insufficiency, including a favorable response to hydrocortisone replacement, in whom elevated serum levels of the cortisol precursor 17-hydroxyprogesterone were diagnostic of non-classical 21-hydroxylase deficiency and in whom no other cause of adrenal insufficiency could be identified. These findings raise the possibility that non-classical 21-hydroxylase deficiency, an extremely frequent disorder which is generally thought to be without significant morbidity, might cause or contribute to adrenal insufficiency in adults. |
| تدمد: | 1720-8386 0391-4097 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40e473a062d47a48f92faeebfe76a590Test https://doi.org/10.1007/bf03349683Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....40e473a062d47a48f92faeebfe76a590 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17208386 03914097 |
|---|