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)

Steroid 11 beta-hydroxylase deficiency is relatively frequent in Israel among North African Jews. Over a 39-year period, 38 affected individuals from 25 families were diagnosed. Nineteen families came from Morocco, and in another 2, one parent came from Morocco (80% of all parents). Demographic studies showed that most of their grandparents were born in the region of the Atlas Mountains. In Israel, the overall incidence of the disorder is estimated between 1 in 30,000 to 1 in 40,000 births, but in offspring of Moroccan Jews the ratio is 1 in 5,000 to 1 in 7,000, with an allele frequency of 1 in 70 to 1 in 84 and a carrier frequency of 1 in 35 to 1 in 42. The clinical expression is characterized by a wide range of variability in the signs of androgen and mineralocorticoid excess. Virilization in the female ranged from enlarged clitoris in the mildest forms, to markedly hypertrophied clitoris with penile urethra and fused labial-scrotal folds in the most severe forms. Hypertension causing vascular accidents and death was observed in both severe and mildly virilized patients, whereas masculinized females were sometimes normotensive. Based on historical evidence, the origin of the ancestors, and the onomastic analysis of the families surnames, we propose that the mutation of 11 beta-hydroxylase deficiency in Jews from Morocco may have originated in either the ancient Jewish settlers or the native Berber tribes who lived in the region of the Atlas Mountains in the southern region of Morocco before the destruction of the Second Temple by the Romans, in the year 70 C.E.
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PMID:High frequency of congenital adrenal hyperplasia (classic 11 beta-hydroxylase deficiency) among Jews from Morocco. 155 23

Tumors of the female genital tract may be associated with a variety of unusual clinical manifestations. Uncommon endocrine and paraendocrine syndromes include production of human chorionic gonadotropin by tumors other than those of germ cell origin, hyperthyroidism associated with struma ovarii and gestational trophoblastic disease, the carcinoid syndrome, the Zollinger-Ellison syndrome, hypercalcemia, Cushing's syndrome, hypoglycemia, hypertension related to renin or aldosterone production, hyperprolactinemia, inappropriate secretion of antidiuretic hormone, and virilization associated with Nelson's syndrome and placental site trophoblastic tumor. Paraneoplastic syndromes associated with gynecological tumors include disorders of the nervous system, connective tissue, and skin, as well as hematologic abnormalities and the nephrotic syndrome. Heritable and other congenital syndromes associated with these tumors are the Peutz-Jeghers syndrome, the nevoid basal-cell carcinoma syndrome, Ollier's disease and Maffucci's syndrome, hereditary leiomyomatosis, ataxia-telangiectasia, von Hippel-Lindau's disease, thyroid abnormalities associated with Sertoli-Leydig cell tumors, and Carney's complex. Other syndromes associated with tumors of the female genital tract include Meigs' syndrome, hyperamylasemia, uveal melanocytic lesions, and pyrexia.
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PMID:Clinical syndromes associated with tumors of the female genital tract. 175 57

Deficiency of steroid 11 beta-hydroxylase, which is a mitochondrial cytochrome P450 required for cortisol and aldosterone synthesis, causes hypertension as well as virilization. In addition, abnormal regulation of this enzyme or a closely related isozyme may be involved in an autosomal dominant form of inherited hypertension, dexamethasone-suppressible hyperaldosteronism. An enzyme that catalyzes the interconversion of cortisol and cortisone, 11 beta-hydroxysteroid dehydrogenase, may be defective in an autosomal recessive form of hypertension termed apparent mineralocorticoid excess. The molecular bases of these forms of hypertension will be elucidated by identifying mutations in the 11 beta-hydroxylase and 11 beta-hydroxysteroid dehydrogenase genes and expressing normal and mutagenized enzymes in cultured cells.
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PMID:Defects in cortisol metabolism causing low-renin hypertension. 187 83

Adrenocortical causes of hypertension are established by examining the mineralocorticoid hormones produced in the zona glomerulosa and zona fasciculata. In the zona glomerulosa, aldosterone excess leads to hypertension, hypokalemia, and suppressed plasma renin activity, with increased concentrations of urinary aldosterone (either as the 18-glucuronide or free aldosterone) as an index of its production. Identifying a tumor by computed tomography scan verifies the diagnosis of a correctable lesion. If no tumor is found, several maneuvers are used to identify primary adrenal hyperplasia, a disorder with autonomous aldosterone production, for which reduction of adrenal mass is curative. The zona fasciculata has two major pathways: the 17-deoxy pathway, where deoxycorticosterone (DOC) and corticosterone are the significant steroids, and the 17-hydroxy pathway, which leads to cortisol production. Tumors of the 17-deoxy pathway, DOC-producing adenomas, have increased concentrations of DOC and its precursor steroids, normal concentrations of cortisol, and suppression of aldosterone production secondary to suppression of the renin system. Two enzymatic defects in the zona fasciculata, 11 beta- and 17 alpha-hydroxylase deficiency, can be first readily identified by the virilization in the former, hypogonadal features in the latter. Steroid patterns are diagnostic. DOC is produced in excess in both deficiencies and is the cause of the hypertension. Deficient or impaired 11 beta-hydroxy steroid dehydrogenase in the apparent mineralocorticoid excess syndrome or after licorice ingestion retards the conversion of cortisol to inactive cortisone in the kidney, leading to mineralocorticoid hypertension; this leads to suppression of the renin system and subsequently of aldosterone.
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PMID:Steroid characteristics of mineralocorticoid adrenocortical hypertension. 191

Adrenocortical carcinoma (ACC), a very rare tumor in children in the United States, is apparently more common among Brazilian children. We reviewed the medical records of 40 children whose disease was diagnosed between 1966 and 1987. There were 12 boys and 28 girls; their median age was 3.9 years (range, 1 day to 15.7 years). Virilization was the most common clinical sign (37 of 40); other signs included abdominal mass, deepened voice, plethora, hypertension, seizures (seven patients) and, rarely, weight loss (two patients). The median time between first signs or symptoms and diagnosis was 1.4 years (range, 3 days to 5 years). Four of 33 tumors were classified as benign according to the Weiss, van Slooten, or Hough systems (tumor tissue was unavailable for seven patients). Tumors were completely resected in 26 of 38 patients; of those, 17 are in continuous complete remission, five relapsed, and four have been lost to follow-up. One patient, who had local recurrence, has been in a third complete remission for 18+ months after tumor resection and chemotherapy (cisplatin and etoposide). Of the remaining 14 patients, 11 died of progressive disease, the diagnosis was confirmed at autopsy in two, and one has been lost to follow-up. Univariate analysis disclosed that age greater than or equal to 3.5 years at diagnosis, interval of greater than or equal to 6 months between first symptoms and diagnosis, tumor weight greater than 100 g, tumor size greater than 200 cm3, and high levels of urinary 17-ketosteroids (17-KS) and 17-hydroxycorticosteroids (17-OH) were associated with an unfavorable outcome. Multivariate analysis disclosed that only a tumor size greater than 200 cm3 independently identifies those patients with an unfavorable prognosis. Among the variables known before surgery, age, and the interval between first symptoms and diagnosis were important predictors of outcome. Our data suggest that some children with ACC and certain clinical characteristics are at high risk of primary treatment failure and, therefore, are good candidates for investigational adjuvant therapy.
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PMID:Adrenocortical carcinoma in children: a study of 40 cases. 229 12

The traditional options available for the correction of hemodialysis-related anemia are blood transfusions and androgen therapy to stimulate erythropoiesis. A new therapeutic option, recombinant human erythropoietin (r-HuEPO; EPOGEN, AMGEN Inc, Thousand Oaks, CA), is currently undergoing clinical trials. Each treatment alternative has certain attendant adverse effects. The adverse effects of transfusion include transmission of infections such as hepatitis or acquired immunodeficiency syndrome, iron overload, and sensitization to histocompatibility antigens. Androgen therapy can cause masculinization of women and children and, in some forms, is associated with a high incidence of abnormal liver function. Treatment with r-HuEPO has some potential adverse effects, including hypertension, thrombosis of arteriovenous fistulae, prolonged duration of dialysis, hyperkalemia, and iron deficiency. Gradual and careful introduction of r-HuEPO should prevent hypertension from becoming problematic.
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PMID:Adverse effects of therapy for the correction of anemia in hemodialysis patients. 264 19

Authors report here an interesting case of a woman who has been treated for essential hypertension for 12 years. Beside the hypertension, an extreme virilization appeared. A large adenoma, originated from the left adrenal gland have been explored behind the clinical picture. After surgical removal of the adenoma, adrenocortical hormones decreased to the normal levels. Systemic blood pressure decreased considerably the virilisation showed gradual involution. The correct treatment of the patient was a decade late, resulting in the development of encephalopathic syndromes.
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PMID:[Essential hypertension caused by a virilizing adrenal tumor]. 272 34

We documented 17-hydroxylase deficiency in a newborn male infant with micropenis, perineoscrotal hypospadias, and a bifid scrotum containing two histologically normal testes. Mild hypertension developed at 20 months of age. The diagnosis was made on the basis of elevated serum levels of progesterone (180-475 ng/dl), corticosterone (1.8-20.2 micrograms/dl), and desoxycorticosterone (56-330 ng/dl). There was an exaggerated response of these steroids to ACTH-(1-24) and suppression by dexamethasone. Mass spectrometric analysis of urinary steroids showed an abnormally high ratio of C21 to C19 3 beta-hydroxy-5-ene steroids due to reduced C19 steroid formation. We suggest that this infant has a form of 17-hydroxylase deficiency which is less severe than previously reported cases in view of his partial prenatal virilization, the minimal testosterone response to CG the absence of hypokalemia, and the presence of normal cortisol levels after prolonged ACTH stimulation. Family studies suggest reduced 17-hydroxylase activity in the father. A surprising coincident finding of no apparent clinical significance was in vitro evidence of 5 alpha-reductase deficiency in genital skin fibroblasts.
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PMID:Diagnosis and natural history of 17-hydroxylase deficiency in a newborn male. 608 2

Eleven cases of congenital virilizing adrenal hyperplasia are studied. This study leads to point out some peculiar characteristics: virilization of external genitalia in girls is most usually important; arterial hypertension is delayed, usually after some years; plasma androgens and desoxycortisol are highly elevated; plasma 17-hydroxyprogesterone is slightly elevated and this may be misleading; good results of treatment which must preferably use hydrocortisone since plasma cortisol is sometimes low; long-term risks in treated children include chronic hypertension in both sexes, advanced puberty in girls and pubertal gynecomastia in boys.
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PMID:[Congenital virilizing adrenal hyperplasia due to 11 beta-hydroxylase deficiency. Study of eleven cases (author's transl)]. 627 Jul 98

Two patients with low renin hypertension showing an increased urinary excretion with 17-KS, with normal level of plasma deoxycorticosterone and no signs of virilization were reported. Dexamethasone induced reduction in blood pressure and elevation of serum K, in spite of acceleration of the renin-angiotensin-aldosterone system. Thus, it has been inferred that the hypertension was not associated with adrenogenital syndrome but was due to excessive production of an unknown mineralocorticoid.
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PMID:Two cases of low-renin hypertension thought to be due to excessive secretion of unknown mineralocorticoid. 627 83


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