Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review

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Term Occurence Count Dictionary
polycystic ovary syndrome 2 endocrinologydiseases
spironolactone 4 endocrinologydiseasesdrugs
testosterone 2 endocrinologydiseasesdrugs
cortisol 5 endocrinologydiseasesdrugs
hyperandrogenism 5 endocrinologydiseases
hypokalemia 1 endocrinologydiseases

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Select Drug Character Offset Drug Term Instance
cortisol 2569 for 0.2–8% of cases [[1]]. Steroid 11b-hydroxylase defects lead to reduced conversion of 11-deoxy cortisol (S) and 11-deoxycorticosterone (DOC) to cortisol and corticosterone, thereby leading to accumulation
cortisol 2618 11b-hydroxylase defects lead to reduced conversion of 11-deoxycortisol (S) and 11-deoxycorticosterone (DOC) to cortisol and corticosterone, thereby leading to accumulation of the two steroid precursors mentioned above. In
cortisol 4393 testosterone, free testosterone, androstenedione, dehydroepiandrosterone sulphate, adrenocorticotropic hormone, cortisol , 17-hydroxyprogesterone, renin, and aldosterone using chemiluminescence immunoassays and biochemical
cortisol 13924 the diagnostic standards for non-classical 11OHD [[4], [17], [21]]. Baseline and stimulated 11-deoxy cortisol measurements, 11β-hydroxylase activity assays, and urinary steroid profiling using LC-MS/MS are recommended
cortisol 14127 are recommended to avoid missing the diagnosis of non-classical 11OHD [[16], [35]]. However, 11-deoxy cortisol measurement and ACTH medications are currently unavailable in most Chinese hospitals, which hinders
spironolactone 1343 indicated that this mutation may cause reduced enzymatic activity. After treatment with hydrocortisone and spironolactone , blood pressure was brought under good control, and menstruation returned to normal. We also conducted
spironolactone 9034 given hydrocortisone twice a day (hydrocortisone 10 mg in the morning and 5 mg in the afternoon) and spironolactone (40 mg each day). Her blood pressure was brought under good control gradually (120/70 mmHg), and menstruation
spironolactone 15011 early diagnosis and antihypertensive therapy. The use of mineralocorticoid receptor antagonists such as spironolactone or eplerenone for antihypertensive therapy is recommended in such patients [[14]]. The patient in this
spironolactone 15144 antihypertensive therapy is recommended in such patients [[14]]. The patient in this case was given spironolactone therapy, which controlled the blood pressure to normal.In summary, the present study reports the case
testosterone 4281 tomography machine, GE Lightspeed). Laboratory tests included measurements of serum potassium, natrium, testosterone , free testosterone, androstenedione, dehydroepiandrosterone sulphate, adrenocorticotropic hormone, cortisol,
testosterone 4300 Lightspeed). Laboratory tests included measurements of serum potassium, natrium, testosterone, free testosterone , androstenedione, dehydroepiandrosterone sulphate, adrenocorticotropic hormone, cortisol, 17-hydroxyprogesterone,
Select Disease Character Offset Disease Term Instance
hyperandrogenism 486 of non-classical 11OHD are even rarer. Non-classical 11OHD usually presents as premature adrenarche, hyperandrogenism , menstrual disorders, and hypertension. Because the symptoms of non-classical 11OHD are mild, delayed
hyperandrogenism 1774 this disease should be considered in patients with early-onset hypertension, menstrual disorders, and hyperandrogenism to provide early treatment and prevent organ damage due to hypertension and hyperandrogenism. CYP11B1
hyperandrogenism 1867 disorders, and hyperandrogenism to provide early treatment and prevent organ damage due to hypertension and hyperandrogenism . CYP11B1 mutations are known to be race-specific and are concentrated in exons 3 and 8, of which mutations
hyperandrogenism 15865 classical 11OHD. The possibility of non-classical 11OHD should be considered in hypertensive patients with hyperandrogenism or elevated mineralocorticoids. Such patients should be carefully identified and given an early diagnosis
hyperandrogenism 16042 carefully identified and given an early diagnosis and treatment to avoid the adverse outcomes caused by hyperandrogenism or long-term hypertension
hypokalemia 2877 towards sex steroids corresponds to the typical clinical presentation including low renin hypertension, hypokalemia , hyperandrogenemia, and genital ambiguity in affected females. Current reports in the literature relevant
polycystic ovary syndrome 634 hypertension. Because the symptoms of non-classical 11OHD are mild, delayed diagnosis or misdiagnosis as polycystic ovary syndrome or primary hypertension is common.Case presentationThis paper introduces a case of a young female patient
polycystic ovary syndrome 13466 prevalence may be underestimated and it may be misdiagnosed. Some patients may be misdiagnosed as having polycystic ovary syndrome because of the mildly elevated androgen levels [[13], [16]], and there are patients that only present

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