Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

17 alpha-hydroxylase deficiency syndrome (17-OHDS) is associated with hypogonadism, hypertension, and hypokalemia. Aldosterone production, however, is not elevated, and therefore, other known or unknown mineralocorticoids must account for the excess in mineralocorticoid activity. This study sought to determine whether 19-nor-deoxycorticosterone (19-nor-DOC), a potent hypertensinogenic mineralocorticoid, was elevated in this syndrome. Plasma and urine from a young woman with 17-OHDS were examined from various corticosteroids before and after ACTH, dexamethasone, and cortisol administration. In the basal state, urinary and plasma 17-hydroxycorticosteroids were decreased, but 17-deoxycorticosteroids were extremely elevated, including corticosterone (B), 18-hydroxy-B (18-OH-B), tetrahydro-B (TH-B), TH-DOC, and 18-OH-TH-DOC. Basal urinary (UF) 19-nor-DOC measured by both high pressure liquid chromatography (4255 ng/day) and RIA [3800 ng/day; normal, 102 +/- 27 (+/- SD), was markedly elevated. UF 19-nor-DOC did not increase further after ACTH administration (4255 ng/day), but it decreased after both dexamethasone (less than 100 ng/day) and cortisol therapy (612 and 218 ng/day). Basal plasma 19-nor-DOC was elevated and increased after ACTH stimulation (366 pg/ml) and decreased during dexamethasone suppression (6 pg/ml). A plasma 19-nor-DOC precursor that converted to nor-DOC upon acidification (perhaps 19-oic-DOC) also was detectable (172 pg/ml). This study, therefore, demonstrates a marked elevation in UF 19-nor-DOC in 17-OHDS, which could account for some of the excess mineralocorticoid activity in this syndrome.
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PMID:Plasma and urinary 19-nor-deoxycorticosterone in 17 alpha-hydroxylase deficiency syndrome. 633 24

17 alpha-Hydroxylase Deficiency (17 alpha-OHDS) is a rare defect of steroid biosynthesis, characterized by the inability to synthesize cortisol, androgens or estrogens, by the complete absence of follicular maturation, hypergonadotropic hypogonadism, primary amenorrhea and hypertension. Since the ovaries of such patients contain numerous primordial follicles, we hypothesized that the absence of spontaneous follicular maturation could be due to a lack of aromatizable substrate. To provide this substrate, testosterone was administered either by intra-ovarian injection or by vaginal administration. Ovarian stimulation was performed with human urinary gonadotropins. Follicular maturation and ovulation could be induced by this treatment, as determined from ultrasonography, the analysis of LH, estradiol and progesterone serum levels and the aspiration of oocytes from the mature follicles. Fertilization of these oocytes in vitro, however, did not succeed. We conclude that follicular maturation can be induced in 17 alpha-OHDS by gonadotropins when testosterone is provided as an aromatizable substrate and that estrogens are a necessary component of follicular maturation.
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PMID:Substitution with testosterone as aromatizable substrate for induction of follicular maturation, estradiol production and ovulation in a patient with 17 alpha-hydroxylase deficiency. 895 77