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 case of salt-losing congenital adrenal hyperplasia with severe hyponatremic dehydration is presented. Clinical signs and symptoms of cerebral edema with elevated intracranial pressure were present. Conventional treatment was started, and after initial concern regarding future head growth and development, there was a good outcome with normal development at 1 year of age. This course is suggestive of benign intracranial hypertension. Possible mechanisms are discussed with a review of the relevant literature.
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PMID:Benign intracranial hypertension following severe hyponatremic dehydration in congenital adrenal hyperplasia. 405 82

The diagnosis of congenital adrenal hyperplasia due to a deficiency of the enzyme 17 alpha-hydroxylase was made in a genetic male and female sibling pair born of parents who were first cousins. The genetic male was a phenotypic female who presented with primary amenorrhea and mild hypertension. The genetic female exhibited absence of secondary sexual characteristics and severe hypertension. The plasma steroid data confirmed the diagnosis of 17 alpha-hydroxylase deficiency in both subjects: low 17 alpha-hydroxyprogesterone, elevated desoxycorticosterone, elevated corticosterone and elevated progesterone. These are the first case reports of 17 alpha-hydroxylase deficiency in a male-female sibling pair, and they add support to the hypothesis that this is an autosomal recessive disorder.
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PMID:17 alpha-hydroxylase deficiency in a genetic male and female sibling pair. 612 30

Four cases in adults of a deficiency in the 11 beta-hydroxylation of corticosteroids were investigated by both basal and dynamic biological studies. Symptoms varied from patient to patient; hirsutism, menstrual disturbance, acne, deepening of the voice, and arterial hypertension appeared post puberty. Basal testing demonstrated elevated levels of plasma androgens. These include delta 4-androstenedione (patients, 3.80-6.43 ng/ml; normal, 1.33 +/- 0.33 ng/ml), urinary 17-ketosteroids (patients, 11.8-16.7 mg/24 h; normal, 5-10 mg/24 h), and urinary dehydroepiandrosterone. The basal tests were often insufficient to show the accumulation of the precursors (especially 17-hydroxyprogesterone) which are often given as evidence for an increase in ACTH stimulation. In studying the levels of the mineralocorticoids, there was shown to be an increased basal level of tetrahydrodeoxycorticosterone (patients, 142-317 microgram/24 h; normal, 60-80 microgram/24 h) which was raised by ACTH stimulation. These results, therefore, confirm the characteristic partial enzyme defect and give evidence for the heterogeneity of this syndrome. Based on the above observations, we believe it is appropriate to rename this condition adult adrenocortical 11 beta-hydroxylation defect rather than late-onset congenital adrenal hyperplasia.
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PMID:Adrenocortical 11 beta-hydroxylation defect in adult women with postmenarchial onset of symptoms. 624 34

Two brothers, aged 20 and 12, with the 11 beta-hydroxylase deficient form of congenital adrenal hyperplasia, are presented. They had refused treatment for the previous four years until the younger was admitted with malignant hypertension, partial blindness and evidence of myocardial damage. The elder was therefore admitted for assessment and found to have less severe hypertension. Gas liquid chromatographic analysis of the steroids in urine from each revealed a possible difference in the enzyme defect between the two brothers--the younger having a complete, while the elder had only a partial block. Family studies have confirmed no association with the HLA locus.
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PMID:Malignant hypertension in congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. 660 91

The authors describe the principal clinical and biological features of congenital adrenal hyperplasia with hypertension with respect to their own experience and a review of the literature: a beta-11-hydroxylase deficiency is well-known, an alpha-17-hydroxylase deficiency is exceptionally rare. Several clinical and biological advances are discussed in the light of recent studies.
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PMID:[Hypertensive forms of congenital adrenal hyperplasia]. 660 6

Studies in patients with congenital adrenal hyperplasia due to 11-hydroxylase deficiency (11-OHD) suggest a common defect in the adrenal zona fasciculate and zona glomerulosa. The hypertension in untreated 11-OHD patients is considered to be secondary to the accumulation of deoxycorticosterone as a consequence of inadequate 11-beta-hydroxylation in the biosynthesis of aldosterone, and is alleviated by glucocorticoid suppression. To investigate whether deoxycorticosterone suppression in these patients resulted in loss of salt, 11 patients with 11-OHD aged 4-26 yr were studied. Patients were evaluated during dexamethasone suppression (0.6 mg/m for 2 weeks) while receiving a normal diet and a low salt diet (10 meq Na/24 h). There was no significant change in serum electrolytes, cortisol, 11-deoxycortisol, and DOC during these two dietary regimens. PRA in the recumbent and upright positions on both diets was significantly higher in the patients than in normal subjects. Plasma or urinary aldosterone levels were significantly lower in the 11-OHD patients than in the normal controls. Moderate salt loss occurred during the low salt diet. It is concluded that sodium retention is incomplete in glucocorticoid-treated 11-OHD patients. Partial sodium retention is maintained by increased PRA and a subnormal aldosterone response. 11-OHD patients should be carefully monitored during acute disease states and, when electrolyte imbalance is suspected, treatment with mineralocorticoid should be considered.
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PMID:Salt loss in hypertensive form of congenital adrenal hyperplasia (11-beta-hydroxylase deficiency). 660 65

The 11 beta-hydroxylase deficiency (11OHD) form of congenital adrenal hyperplasia is diagnosed infrequently during the newborn period. A child presumed to have the 21-hydroxylase deficiency form of congenital adrenal hyperplasia was studied extensively as an infant. The diagnosis was based on ambiguous genitalia, elevated 17-ketosteroids, evidence of urinary 11-ketopregnanetriol, and salt loss. Severe hypertension was detected at 11 years, and 11 beta-hydroxylase deficiency was confirmed with elevated plasma 11-deoxycorticosterone and 11-deoxycortisol, low cortisol, and normalization of blood pressure following glucocorticoid replacement. Impaired aldosterone biosynthesis and salt loss were demonstrated during dexamethasone therapy. Salt loss during infancy does not distinguish between the 11 beta- and 21-hydroxylase deficiency forms of congenital adrenal hyperplasia.
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PMID:Neonatal salt loss in the hypertensive form of congenital adrenal hyperplasia. 696 49

Studies in 18 Jewish families from Morocco, Tunis, Turkey and Iran revealed 26 patients with congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. The clinical expression of androgen excess varied widely in affected females, and range from solely enlarged clitoris in the mildest forms to severely hypertrophied clitoris with penile urethra and fused labial-scrotal folds in the most extreme forms of masculinization. Intermediate degrees of severity were manifested by ambiguous genitalia. There was no correlation between the degree of virilization and the signs of mineralocorticoid excess. Severe volume-induced hypertension leading to vascular accidents and death were also observed in severe as well as in mildly virilized patients, while completely masculinized females were sometime normotensive. Overt hypokalemia was present in 6 patients but was not a constant feature of hypertensives. However, all affected individuals, except for 2 infants, had very low levels of plasma renin activity suggesting that a state of volume expansion was indeed present in the majority of cases, even though changes in blood pressure did not always occur. The clinical expression of this disorder is characterized by a wide range of variability in the signs of both androgen and mineralocorticoid excess, which do not necessarily correlate with the quantity of hormones secreted.
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PMID:Clinical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. 704 83

Three patients, one male and two females, in whom the diagnosis of congenital adrenal hyperplasia (CAH) was made in early childhood were studied. The two females were treated with cortisone acetate from the age of 2 and 4 years, respectively, and later they both proved to be fertile. The male patient was only treated sporadically with cortisone acetate until the age of 33 years. He also became fertile when a more consistent treatment with prednisolone was started. The two female patients had a slight hypertension in childhood before the treatment was initiated but became normotensive on treatment. The male patient revealed a blood pressure of180/130 mm Hg at the age of 33 years. In this patient the treatment with prednisolone produced a moderate decrease in the blood pressure, but additional treatment with antihypertensive drugs was needed to make him normotensive. All three patients were originally thought to have a 21-hydroxylase deficiency and the correct diagnosis of an 11 beta-hydroxylase deficiency was first established between the age of 26 and 33 years. It is concluded that an early diagnosis and an uninterrupted treatment with glucocorticoids are important in order to prevent hypertension and infertility problems.
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PMID:Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency: final diagnosis in adult age in three patients. 735 68

Over a 10-year-period, 78 Saudi children with congenital adrenal hyperplasia were seen at King Khalid University Hospital, Riyadh. Of these, 20 (25.6%) patients from 11 families were 11 beta-hydroxylase deficient. Their mean age was 2.8 years (range 0-10 years). The clinical expression was somewhat severe; pseudoprecocious puberty in males and variable degrees of virilization in females which led to wrong sex assignment in seven (58.3%). Three patients had neonatal salt-wasting before treatment. Moderate to severe hypertension associated with hypokalaemia was present in another six. In four siblings hypertension persisted inspite of adequate hydrocortisone therapy. It is concluded that congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is relatively frequent among the Saudi Arabian population. In view of the severity of the clinical expression and complications, physicians should be aware of the disease and have a high index of suspicion in order to detect and treat such patients early enough to avoid or minimize the unwanted sequelae.
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PMID:Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency in Saudi Arabia: clinical and biochemical characteristics. 767 Feb 48


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