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)

Since Gomez-Sanchez isolated 19-nor-DOC from the urine of rats with adrenal regeneration hypertension, we have demonstrated that 19-nor-DOC is a naturally occurring substance in other hypertensive animal models as well as in man. Certain 19-nor-corticosteroids are potent mineralocorticoids and may have a role in the regulation of systemic arterial blood pressure and could be involved in the pathogenesis of hypertension. We have previously demonstrated that 19-nor-DOC is greatly influenced by ACTH and dexamethasone but less so by high and low sodium diets in normotensive human subjects and, that 19-nor-DOC is greatly increased in some but not all hypertensive patients. Studies by Gomez-Sanchez and by our own group have shown that 19-nor-DOC is not secreted by the adrenal gland directly but rather the adrenal secretes a 19-oic-DOC precursor which is converted peripherally by extra-adrenal tissues. Biosynthesis of 19-oic-DOC has been demonstrated to occur by prior hydroxylation of DOC and progressive oxydation to the acidic form. More recently it has been shown that 19-nor-DOC is excreted in the urine of mammals as a free unconjugated compound but to a greater extent as a 21-monoglucuronide. In the studies described we will report the quantification of urinary excretion of 19-nor-DOC as a free and unconjugated compound and also as a 21-monoglucuronide in patients with hypertension as well as in patients with specific forms secondary hypertension such as that found in 17 alpha hydroxylase deficiency which is a syndrome associated with hypogonadism, hypertension and hypokalemia. In this disorder of cortisol biosynthesis adlosterone production, is not elevated and therefore other known and unknown mineralocorticoid account for the excess in mineralocorticoid activity observed. Our study demonstrated that 19-nor-DOC, the potent hypertensinogenic mineralocorticoid was elevated in both plasma and urine from a young woman with 17-alpha hydroxylase deficiency. This patient was examined for various corticosteroids in basal and ACTH-stimulated, dexamethasone-suppressed and cortisol-treated states. In the basal state, urinary and plasma 17 alpha-hydroxy corticosteroids were decreased but the 17-deoxycorticosteroids were extremely elevated including corticosterone, 18-hydroxy corticosterone, tetrahydro corticosterone, tetrahydro-deoxycorticosterone and 18 hydroxy-tetrahydro-DOC. Both basal urinary free 19-nor-DOC was markedly elevated both by HPLC and radioimmunoassay measurements.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:19-Nor-corticosteroids in health, in hypertensive states in humans including 17 alpha-hydroxylase deficiency and in the spontaneously hypertensive rat (SHR). 633 61

Weanling male and female, stroke-prone, spontaneously hypertensive rats (SHR/SP) were fed: 1) regular commercial rat chow, 2) low protein fish diet, 3) low protein fish diet + 1% saline, 4) low protein animal diet, and 5) low protein animal diet + 1% saline. The blood pressure of all of the SHR/SP rose rapidly reaching 240 mmHg at 90 days of age; blood pressure of low protein fish diet + 1% saline-fed SHR/SP rose most rapidly, reaching levels ranging from 258 to 300 mmHg. All of these animals developed acute strokes by 90 days of age; none of the other diet-fed SHR/SP manifested cerebral damage. The protein poor diets prevented normal growth, caused hypogonadism, and severely reduced pituitary and adrenal gland weights. The low protein diets were stressful causing significantly increased secretion of adrenocorticotrophic hormone and marked increases in triglyceride, free fatty acid, cholesterol, glucose, and B.U.N. levels. The mixed hemorrhagic-thrombogenic cerebral lesions occurred ipsilaterally in the parietal lobe, involved basal ganglia, and appeared in areas of brain tissue nourished by the middle cerebral artery. It is concluded that the inclusion of 1% saline drinking water with a low protein diet of fish tissue origin specifically, was synergistic in enhancing the propensity of SHR/SP rats to develop their genetically-programmed hypertension and stroke.
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PMID:Low protein fish vs low protein animal diet enhances the propensity for stroke in stroke-prone/SHR. 665 36

Identical twins with the Prader-Willi syndrome are reported. Apart from hypogonadism, hypomentia, hypotonia and obesity, they presented shorter than normal stature and the peculiar facies of this syndrome. Both twins also suffered from arterial hypertension with secondary hyperaldosteronism, an abnormality never previously recorded. The endocrinological study showed the presence of hypogonadotrophic hypogonadism in both twins. The GnRH and clomiphene tests suggested a hypothalamic disorder. Although the vast majority of cases with the Prader-Willi syndrome are isolated, the expression of this disorder in two identical twins enhances the possibility of a genetic determination.
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PMID:The Prader-Willi syndrome: neuroendocrine study of identical twins. 668 67

Primary empty sella syndrome (ESS) is an anatomo-radiological picture characterized by the presence of an arachnoid herniation filled with liquor that compresses the pituitary against the sellar wall. ESS occurs particularly in obese, hypertensive, cephalalgic women. It is often asymptomatic but may be associated with ophthalmologic, neurologic and non-characterizing endocrine disorders. We report here 43 cases of primary ESS observed and assessed in our Departments of Internal Medicine from June 1983 to May 1993. The following endocrinological diagnostic procedures were carried out: hormonal (RIA) basal profile: FT3, FT4, TSH, PRL, ACTH, FSH, LH, 8.00 a.m. and p.m., blood cortisol, aldo, PRA, DHEA-S, FTe, E2, P, PTH, CT, and calcemia and phosphoremia; provocative tests: TRH, GnRH, etc.; inhibition tests: high dose dexamethasone. Clinical, neurologic (skull radiographs, sellar stratigraphy, computed tomography scan and magnetic resonance), and ophthalmologic (fundus, visual fields) assessments were also made. Our findings fit with the data in the literature concerning common symptoms of ESS, associated endocrinopathies and other illness. We found obesity (62.7%), oligo-amenorrhea (16.6%), galactorrhea (14.6%), hyperPRL (11.6%), hypopituitarism (9.3%), hypogonadism (4.6%), diabetes insipidus (2.3%), (micro-)polycystic ovary syndrome (19%), hyperACTH (2.3%). In 9.3% of the cases, endocrinopathy referred to pituitary adenomas. Moreover, we noted a high frequency of psychological disorders, to our knowledge not previously reported in the literature, including anxiety or dysthymic disorders with altered behavior (chiefly oral compulsion). We also make the hypothesis that obesity (occurring in 62.7% of our patients) and hypertension (62.7%) may be related to hypothalamic alterations.
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PMID:[43 cases of primary empty sella syndrome: a case series]. 761 55

Oocyte donation was applied initially to women with hypergonadotrophic hypogonadism or 'premature menopause'. Later, therapy was extended to recipients > 40 years old and to post-menopausal women. In all cases, enhanced implantation and pregnancy rates were obtained by many investigators. Post-menopausal women must be informed about in-vitro fertilization results, obstetric risks for themselves and their newborn babies. They must be screened and investigated as accurately as possible for any existing medical contraindication. Results are encouraging because these patients become pregnant as easily as young donors, with pregnancy rates of 58, 34.6 and 37.9% per patient, per synchronization cycle and per transfer respectively. Abortion rates (5%) are very low considering the women are > 45 years old. The post-menopausal uterus can sustain implantation, grow and carry pregnancy to term and reduce adequately after labour. The incidence of maternal morbidity during pregnancy is less encouraging. A higher incidence of pregnancy-related diseases, e.g. gestational diabetes, hypertension, moderate and severe pre-eclampsia have been reported.
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PMID:Counselling post-menopausal women for donor in-vitro fertilization and hormone replacement therapy. 765 73

Bardet-Biedl syndrome is a heterogeneous autosomal recessive disorder characterized by obesity, mental retardation, polydactyly, retinitis pigmentosa and hypogonadism. Patients with this disorder also have a high incidence of hypertension, diabetes mellitus, and renal and cardiovascular anomalies. Three independent loci causing Bardet-Biedl syndrome have previously been reported. In this study, we we utilized a DNA pooling approach using DNA samples from a highly inbred Bedouin kindred to identify a new Bardet-Biedl syndrome locus on chromosome 15. The results further demonstrate the genetic heterogeneity of this disorder. In addition, the results demonstrate the efficiency of the DNA pooling approach for identifying recessive disease loci in highly inbred human populations.
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PMID:Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. 771 39

A patient with 17 alpha-hydroxylase deficiency (17OHD) who continued to menstruate is reported. A 24-year-old woman who presented with hypertension, hypokalemia and irregular menses had increased plasma ACTH and mineralocorticoids without any increase in glucocorticoids or sex steroids, and a bilateral adrenal enlargement on abdominal X-ray CT. ACTH stimulation test revealed hyperresponse of the metabolites of the mineralocorticoid pathway and blunted or absent response of those of the glucocorticoid and androgen pathway. Almost all of the abnormalities disappeared after dexamethasone administration. While 17OHD is usually known to accompany hypergonadotropic hypogonadism, the patient continued to menstruate, though irregularly. Although human chorionic gonadotropin administration failed to induce response, basal plasma levels of ovarian steroid (estradiol) and gonadotropins as well as response to LHRH stimulation test were all normal. Thus, the clinical and biochemical features of this case is compatible with the partial deficiency of both adrenals and ovaries, being less severe in the latter. A further analysis especially at molecular level is needed to elucidate the basis for the heterogeneity of this disorder.
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PMID:A case of 17 alpha-hydroxylase deficiency with retained menstruation. 795 71

Bardet-Biedl syndrome is an autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, polydactyly and hypogonadism. Individuals with this disorder also have an increased incidence of hypertension, diabetes mellitus, and renal and cardiac anomalies. We previously identified a locus on chromosome 16 causing this disorder, and provided evidence that Bardet-Biedl syndrome is heterogeneous. In this study, we identify another Bardet-Biedl syndrome locus on chromosome 3 and confirm the non-allelic heterogeneity of this disorder in Bedouin populations. In addition, we demonstrate the feasibility of using pooled DNA samples from members of large kindreds as an efficient approach to homozygosity mapping.
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PMID:Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. 798 10

Genetic disorders in the gene encoding P450c17 cause 17 alpha-hydroxylase deficiency. The consequent defects in the synthesis of cortisol and sex steroids cause sexual infantilism and a female phenotype in both genetic sexes as well as mineralocorticoid excess and hypertension. A 15-yr-old patient from Germany was seen for absent pubertal development and mild hypertension with hypokalemia, high concentrations of 17-deoxysteroids, and hypergonadotropic hypogonadism. Analysis of her P450c17 gene by polymerase chain reaction amplification and direct sequencing showed mutation of codon 440 from CGC (Arg) to CAC (His). Expression of a vector encoding this mutated form of P450c17 in transfected nonsteroidogenic COS-1 cells showed that the mutant P450c17 protein was produced, but it lacked both 17 alpha-hydroxylase and 17,20-lyase activities. To date, 15 different P450c17 mutations have been described in 23 patients with 17 alpha-hydroxylase deficiency, indicating that mutations in this gene are due to random events.
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PMID:Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency. 802 20

A 28 year old patient presented with primary amenorrhoea, streak ovaries, mosaicism with 46,XX/47,XXX, hypertension resistant to a tri-therapy and osteoporosis. The presence of hypergonadotropic hypogonadism, increased levels of corticosterone and desoxycorticosterone, a decreased response of cortisol and aldosterone to i.v. ACTH were characteristic of a 17 alpha-hydroxylase deficiency. Administration of 0.5 mg of dexamethasone normalized the blood pressure. Genetic origin of this disease and the different aspects of the ovaries that have been observed are discussed.
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PMID:[Primary amenorrhea and arterial hypertension in a case of 17 alpha-hydroxylase deficiency]. 804 May 69


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