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)

A female patient with hypertension, hypogonadism and hypokalaemia due to 17alpha-hydroxylase deficiency is described, in whom the diagnosis was initially based on the finding of low urinary 17-ketosteroids and 17-hydroxycorticosteroids, in the presence of high plasma fluorometric 11-hydroxycorticoids. Later studies confirmed the diagnosis by demonstrating low circulating levels of 17alpha-hydroxyprogesterone and the steroids derived from this precursor: 11-deoxycortisol, cortisol, oestradiol and testosterone. Plasma progesterone, corticosterone and deoxycorticosterone (DOC) were greatly increased, but plasma and urine aldosterone were very low. The initial subnormal cortisol and 11-deoxycortisol levels responded to tetracosactrin administration, suggesting that the adrenal was not maximally stimulated by endogenous ACTH and indicating that the 17alpha-hydroxylase deficiency was incomplete. Plasma and urinary aldosterone levels were still suppressed after 12 months treatment with prednisone despite normalization of the previously suppressed renin levels. The findings indicate that this uncommon cause of medically-controllable juvenile hypertension can be identified without specific steroid assays.
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PMID:Hypertension due to 17alpha-hydroxylase deficiency. 30

The Bardet-Biedl syndrome is a rare autosomal recessive disorder characterized by pigmentary retinopathy, obesity, polydactyly, hypogonadism, and mental retardation. Renal abnormalities, hypertension, acquired heart disease, and hepatic fibrosis also occur in homozygotes. Two adult Bardet-Biedl sibs, a man with hypertension and cardiomegaly and a woman with biliary cirrhosis, and 75 relatives in 5 generations of the extended family were identified. Hospital records for major illnesses, death certificates, and autopsy reports were examined. The frequent observation of obesity, hypertension, diabetes mellitus, and renal disease in first-degree relatives, obligate gene carriers, and other blood relatives raise the possibility that Bardet-Biedl heterozygotes are also predisposed to these disorders.
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PMID:Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs. 187 34

We studied in vivo and in vitro steroidogenesis in six phenotypic female children with 17-hydroxylase deficiency. The diagnosis was suspected as a likely cause of familial low renin hypertension and was confirmed by findings of reduced basal and ACTH-stimulated serum and urinary levels of cortisol and other 17-hydroxysteroids, together with hypergonadotropic hypogonadism in both 46,XY and 46,XX patients, and abnormally increased secretion of 17-desoxysteroids, such as progesterone, 11-deoxycorticosterone, and corticosterone. ACTH stimulation testing demonstrated a lesser degree of 17-hydroxylase deficiency in the obligate heterozygous parents; one father had increased basal serum 17-hydroxyprogesterone values, unresponsive to ACTH, suggesting partial Leydig cell 17,20-desmolase deficiency. In vitro kinetic analysis of testicular microsomal enzymes in the affected 46,XY male pseudohermaphrodites confirmed that both 17-hydroxylase and 17,20-desmolase activities were less than 2% of those in age-matched normal subjects. However, in spite of this virtual absence of both enzymatic activities of cytochrome P450c17, Northern blot analysis demonstrated abundant amounts of RNA in these tests that hybridized to a cDNA specific for this P450 enzyme. Moreover, immunoblot analysis of sodium dodecyl sulfate-polyacrylamide gel electrophoresis-resolved testicular microsomes showed an apparently normal content of an immunoreactive protein with a mol wt similar to that of authentic P450c17. These results suggest that these patients have a point mutation in the gene for P450c17; the mutant gene is transcribed, but gives rise to a protein defective in normal 17-hydroxylase and 17,20-desmolase activities.
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PMID:Combined 17-hydroxylase and 17,20-desmolase deficiencies: evidence for synthesis of a defective cytochrome P450c17. 249 25

We present a report on two sisters who have 17 alpha-hydroxylase deficiency with hyperaldosteronism. They have hypertension and hypergonadotropic hypogonadism. The steroid profiles suggest that they have 17 alpha-hydroxylase deficiency. In contrast to the classical biochemical findings in 17 alpha-hydroxylase deficiency, both of these patients have hyperaldosteronism. Thus this report describes a new variant of 17 alpha-hydroxylase deficiency with hyperaldosteronism. Dexamethasone suppressed the mineralocorticoid excess, including aldosterone, and improved their hypertension. In the untreated state, ACTH, instead of the renin-angiotensin system, regulated plasma aldosterone levels, but during dexamethasone treatment the renin-angiotensin system regulated these levels.
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PMID:A new variant of 17 alpha-hydroxylase deficiency with hyperaldosteronism in two Japanese sisters. 255 Feb 10

Adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is coupled with precocious hypogonadism, which causes pseudohermaphroditism in XY subjects and primary amenorrhea in XX subjects. The physiology of gluco- and mineral-corticoid adrenal activity, as well as the biosynthesis of gonadal steroids, is totally altered. We report two cases of XY subjects, identified as females, who came to our observation for primary amenorrhea and exhibited a hypertension with hypokaliemia. We also report a critical review of the literature, with a main attention to differential diagnosis and mineralcorticoid physiopathology, in order to contribute to the knowledge of normal adrenal function and of this enzymatic defect.
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PMID:[Male pseudohermaphroditism caused by 17-alpha-hydroxylase deficiency. Personal case reports and a review of the literature]. 269 23

The authors reported the clinical course and the postmortem examination of a unique case of neurocutaneous melanosis with numerous anomalies and complications, which included congenital dislocation of lenses, hypogonadism, ectopia of prostatic duct, genuine phimose, retentio testis, psina bifida and neurogenic bladder. This 13-year-old boy with a large hairy nevus in a bathing trunk configulation and multiple small nevi over the whole body since his birth was admitted to our hospital for evaluation of headache and vomiting. Neurological examination showed bilateral papilledema and slight left hemiparesis. A CT scan revealed a large right frontal mass and craniotomy was performed with subtotal removal of this tumor which was confirmed as a malignant leptomeningeal melanoma. He initially made uneventful postoperative recovery, and two courses of chemotherapy with DTIC, ACNU and VCR were given; however, the currence of brain tumor ensued shortly thereafter, and he died in approximately six months after the onset of intracranial symptoms despite of the third course of chemotherapy. Thirty five cases of neurocutaneous melanosis associated with or without malignant melanoma have been reported in Japan. Twenty-eight cases were male and 7 female. Two cases showed the evidence of primary malignant melanoma outside of the central nervous system, whereas twenty eight leptomeningeal melanoma, in which 22 were solid and 6 diffuse, were shown intracranially. Other 5 cases had epileptic seizure and/or hydrocephalus caused by wide spreaded leptmeningeal melanosis. This high incidence of intracranial malignant melanoma in this disorder was remarkable compaired with the previous reports in other countries. Mean duration between deaths and the onset of symptoms of intracranial hypertension or focal neurological signs was 7 months, ranging from 1 to 24 months, showing the rapidly deteriorating course in this disorder.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An autopsy case of neurocutaneous melanosis associated with intracerebral malignant melanoma]. 332 33

To determine the nature, extent, and severity of renal involvement in Laurence-Moon-Biedl syndrome (obesity, mental retardation, polydactyly, hypogonadism, and pigmented retinal dystrophy), we evaluated 20 of 30 patients with the disorder identified from ophthalmologic records in Newfoundland. The mean age was 31 years, and seven were male. All 20 patients had structural or functional abnormalities of the kidneys or both. Three had end-stage renal disease, with two requiring maintenance hemodialysis. The remaining 17 patients had normal serum creatinine values and estimated creatinine clearances. Half the subjects had hypertension. Fourteen of 17 patients could not concentrate urine above 750 mOsm per kilogram of body weight even after vasopressin, whereas all 10 normal controls could. Urinary pH decreased below 5.3 after ammonium chloride administration in all 15 normal controls, but in only 13 of 18 patients. Calyceal clubbing or blunting was evident in 18 of 19 patients studied by intravenous pyelography; 13 patients had calyceal cysts or diverticula. Seventeen of 19 patients had lobulated renal outlines of the fetal type. Four patients had diffuse renal cortical loss, but only two of these had renal insufficiency. We conclude that Laurence-Moon-Biedl syndrome includes the presence of renal abnormalities.
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PMID:The spectrum of renal disease in Laurence-Moon-Biedl syndrome. 341 78

The authors' and literature data on hormonal imbalance in uremia are analysed. The pathogenesis, clinical and laboratory signs and present-day methods of correction of renal osteodystrophy, anemia, arterial hypertension, derangements of carbohydrate and lipid metabolism, and hypogonadism developing as complications of chronic renal insufficiency (CRI), are considered. Increased potentialities of pharmacological correction of the above endocrine disturbances in CRI have been shown.
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PMID:[Current possibilities of correction of hormonal imbalance in uremia]. 344 81

Careful evaluation was carried out in 93 men older than 50 with erectile dysfunction. Their mean age was 61 years and the disorder had been present for a mean of 4.5 years. While 14 men (15%) had psychosocial factors that may have been pertinent, only 2 scored poorly on an Affect Balance Scale and 3 were receiving psychoactive medications. Results of nocturnal penile tumescence were abnormal in 91%. In 39% penile-brachial pressure indices were suggestive of pelvic vascular disease and in 9% were consistent with a pelvic "steal syndrome." Pelvic or peripheral nerve conduction disorders were also commonly seen in 54%. Endocrinopathy may have contributed to the dysfunction in 35%. Twenty-one men had diabetes mellitus, two new cases of hypothyroidism were discovered and hypogonadism was diagnosed definitely in four and considered likely in five others. Coexisting medical conditions were found in more than 90% of the men, especially hypertension, use of antihypertensive medications and atherosclerotic disease. Previous prostatectomies (19%) and vasectomies (30%) were common in the surgical histories. Given the wide range of disorders uncovered in older men complaining of impotence, diagnostic study of potential causes may lead to a more rational approach for the evaluation and management of these men.
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PMID:Evaluation of impotence in older men. 401 64

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


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