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 36 year old white female came to our service after having been evaluated on repetitive occasions in the past for a workup of gigantism and acromegalic features. Since childhood she had developed tall stature, frontal bossing, prominence of zygomatic bones, separated teeth, large hands and size 14 shoes. Human growth hormone and somatomedin serum levels had been normal on all occasions tested. Her past history was significant for primary amenorrhea and a 12 year history of hypertension. On physical examination BP was 140/100, height 6' 2", weight 2571 bs. Her phenotype was truly acromegalic. There was absence of axillary and pubic hair with no breast development. External genitalia was of female appearance. Laboratory evaluation showed increased FSH of 88 mlU/ml, increase LH of 65.6 mlU/ml and decreased E2 of 12.6 pg/ml. Other findings were low serum cortisol of 0.2 mg/dl, high ACTH of 344 pg/ml, low 17-Ketosteroids, high pregnenolone levels of 595 mg/dl, low 17-hydroxypregnenolone less than 10 ng/dl, very high aldosterone of 31 ng/dl and suppressed PRA of less than 0.1 ng/ml. A pelvic sonogram showed a right ovoid structure which could represent a gonad and failed to identify the uterus and left gonad. A bone densitometry showed a decrease bone mineral density compatible with osteoporosis. Chromosome study showed a karyotype of 46-XY. A diagnosis was made of congenital adrenal hyperplasia secondary to 17-alpha-hydroxylase deficiency in a genotypic male. Our patient was referred to the department of gynecology for surgical removal of the gonads. It is amazing how a patient with severe adrenal insufficiency can withstand 36 years of her life undiagnosed without going into an adrenal crisis. Her tall stature and acromegalic features were the striking signs confusing all physicians and delaying the correct diagnosis and appropriate treatment. There has been reported worldwide, nearly 120 cases with documented severe 17-alpha-hydroxylase deficiency. To our knowledge this is the first case identified in Puerto Rico of male pseudohermaphroditism secondary to 17-alpha-hydroxylase enzyme deficiency.
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PMID:[Male pseudohermaphroditism caused by enzymatic deficiency of 17-alpha-hydroxylase. 1st case reported in Puerto Rico]. 957 56

We report the case of a 68-year-old man who presented with a mass 3 x 4 cm in size located in the right adrenal gland together with extreme hypertension, tripled urine levels for normetanephrine, and normal plasmatic levels of metanephrines. The patient had suffered a fall from a height of 2.5 meters before hospitalization. [123I]MIBG-scan was repeatedly positive in the area of the right adrenal gland. At laparotomy under alpha-adrenergic blocking agents, the suspected pheochromocytoma was histologically confirmed as hematoma. After resection of the adrenal gland, blood pressure returned to normal without drug therapy as did metanephrine levels in urine. Although adrenal insufficiency after distension of the gland caused by hemorrhage has been reported, there are no data available regarding the mimicking of a hormonally active pheochromocytoma. We conclude that intra-adrenal pressure rise caused by hematoma may cause partial ischemic necrosis to the gland but may also induce reactive hyperplasia with periodic excessive secretion of catecholamines. This interpretation is consistent with the finding that plasma levels of catecholamines were normal in contrast to the urinary normetanephrines in the presented case. It might be worthwhile to investigate patients with intra-adrenal hemorrhage immediately after sustaining multiple injuries and in the posttraumatic course of several months up to 1 or more years together with verification of abnormal urinary excretion of metanephrines as a sign of impaired adrenal function.
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PMID:Posttraumatic hypertension secondary to adrenal hemorrhage mimicking pheochromocytoma: case report. 1033 28

The coexistence of pheochromocytoma and primary adrenal Cushing's syndrome of the same adrenal gland has rarely been reported. We describe here the case of a female patient presenting with mild Cushing's stigmata, hypertension and diabetes mellitus in whom we diagnosed a pheochromocytoma of the left adrenal gland with coexisting non-ACTH-dependent cortisol hypersecretion. While hormonal work-up was still in progress, the patient became pregnant and wanted to carry her pregnancy to full-term. A laparoscopic adrenalectomy in the 17th week of gestation was decided upon and the patient accordingly prepared for surgery by pre-treatment with phenoxybenzamine. Successful surgery--the first ever reported laparoscopic resection of a pheochromocytoma in pregnancy--without perioperative complications was performed under general anesthesia, with the patient receiving peri- and post-operative hydrocortisone substitution. Pathohistological examination revealed a pheochromocytoma with positive immunostaining for interleukin-6 (IL-6) and negative immunostaining for ACTH, vasoactive intestinal polypeptide (VIP) and cytochrome P450, and with no signs of malignancy. A paracrine stimulation of the ipsilateral adrenal cortex by IL-6 produced by the pheochromocytoma, leading to cortical hyperplasia and subclinical Cushing's syndrome, is suggested by the positive immunostaining for IL-6 and the MRI findings. Post-operatively, secondary adrenal insufficiency ensued, necessitating continuing hydrocortisone replacement over 12 months. Hypertension resolved after surgery, and diabetes after the uncomplicated vaginal delivery at term.
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PMID:Pheochromocytoma and sub-clinical Cushing's syndrome during pregnancy: diagnosis, medical pre-treatment and cure by laparoscopic unilateral adrenalectomy. 1047 54

Acute disseminated lupus erythematosus primarily affects young women. The highly unfavorable influence of sex hormones is well known and women are advised against pregnancy. Therapeutic termination of pregnancy has been considered necessary. Regular progress in patient management has however completely changed the short, mid and long-term prognosis, although severe forms still resist treatment. As life expectancy improves, better disease control would allow revisiting the possibility of pregnancy. The spontaneous risk of an acute flare-up during pregnancy is debated but estimated in the 60% range. The risk would be about the same whatever the term, but some suggest risk predominates in the third trimester or in the post partum period. The risk of spontaneous abortion is high, partly due to poor disease control and/or the presence of an associated antiphopholipid syndrome. In such cases, preventive therapy (antiaggregates and/or heparin) has greatly improved fetal prognosis. The risk of neonatal lupus (skin eruptions, atrioventricular block) is essentially related to the presence of anti-Ro (SSA) and anti-La (SSB) antibodies. It cannot be well predicted and prevention must be conducted on an individual basis. Overall prognosis of pregnancy can be improved by authorizing pregnancy when the lupus has reached in a well-controlled quiescent phase for at least one year. A multidisciplinary surveillance associating the medical and obstetric teams is required. Preexisting hypertension and renal involvement are unfavorable factors; serum creatinine above 150 mumol/l is considered a contraindication. When good clinical conditions can be achieved, and possibly with low-dose corticosteroids (10 mg/d), the risk of a flare-up is reduced and the rate of fetal survival is almost the same as in the non-lupus female population. The rates of fetal adrenal insufficiency and infection are not significantly higher. Infants are sometimes hypertrophic at birth and are usually born prematurely. Acute pediatric care must be planned. Prognosis in case of "de novo" lupus during pregnancy or pregnancy in a woman with uncontrolled or poorly-controlled lupus remains poor and can be life-threatening for the mother.
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PMID:[Pregnancy and systemic lupus erythematosus]. 1054 51

Classic Cushing's syndrome is a rare disease with an estimated incidence of 1 case per 100,000 persons. With routine use of imaging techniques such as ultrasound and CT, adrenal masses are being detected with increased frequency. A substantial percentage of these incidentalomas are hormonally active, with 5% to 20% of the tumors producing glucocorticoids. Autonomous glucocorticoid production without specific signs and symptoms of Cushing's syndrome is termed subclinical Cushing's syndrome. With an estimated prevalence of 79 cases per 100,000 persons, subclinical Cushing's syndrome is much more common than classic Cushing's syndrome. Depending on the amounts of glucocorticoids secreted by the tumor, the clinical spectrum ranges from slightly attenuated diurnal cortisol rhythm to complete atrophy of the contralateral adrenal gland with lasting adrenal insufficiency after unilateral adrenalectomy. Patients with subclinical Cushing's syndrome lack the classical stigmata of hypercortisolism but have a high prevalence of obesity, hypertension, and type 2 diabetes. All patients with incidentally detected adrenal masses scheduled for surgery must undergo testing for subclinical Cushing's syndrome to avoid postoperative adrenal crisis. The best screening test to uncover autonomous cortisol secretion is the short dexamethasone suppression test. Because the adrenal origin of a pathologic cortisol secretion is anticipated, the author prefers a higher dexamethasone dose (3 mg instead of 1 mg) to reduce false-positive results. A suppressed serum cortisol level of less than 3 micrograms/dL (80 nmol/L) after dexamethasone excludes significant cortisol secretion by the tumor. A serum cortisol level greater than 3 micrograms/dL requires further investigation, including confirmation by high-dose dexamethasone (8 mg) suppression testing, a CRH test, and analysis of diurnal rhythm. Determination of urinary free cortisol is less useful because increased values are a late finding usually associated with emerging clinical signs of Cushing's syndrome. Patients with suppressed plasma ACTH in response to CRH generally have adrenal insufficiency after surgery and require adequate perioperative and postoperative substitution therapy. Whether patients with subclinical Cushing's syndrome should undergo adrenalectomy is a matter of debate. The author performs surgery in young patients (< 50 years), in patients with suppressed plasma ACTH, and in patients with a recent history of weight gain, substantial obesity, arterial hypertension, diabetes mellitus, and osteopenia. In completely asymptomatic patients with normal plasma ACTH concentrations and in patients older than 75 years, the author recommends a nonsurgical approach. A large prospective randomized study is necessary to evaluate the benefits of surgery versus conservative treatment in patients with subclinical Cushing's syndrome.
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PMID:Subclinical Cushing's syndrome. 1073 63

A 43-year-old female with a 24-years history of hypertension presented for further investigation and management of primary hyperaldosternoism. Postural studies were not conclusive and magnetic resonance (MR) imaging demonstrated a 27 x 18 mm lesion of the right adrenal gland which showed no signal loss during in and out of phase imaging. Although these appearances were considered to be atypical of those seen on MR in patients with aldosterone producing adrenal adenomas the patient underwent an adrenalectomy with removal of a 3 x 3 x 2 cm right adrenal mass. Post-operatively she became hypotensive and a 0900 hours serum cortisol was undetectable (< 50 nmol/l), consistent with adrenal insufficiency. Following the administration of hydrocortisone there was normalization of the blood pressure and subsequent adrenal stimulation tests confirmed the presence of functioning adrenal tissue albeit with an inadequate response. Cortisol measurement from preoperative samples revealed loss of normal diurnal rhythm whereas DHEAS levels both pre and postoperatively were undetectable, consistent with ACTH supression resulting from autonomous cortisol secretion in addition to aldosterone. Concurrent secretion of cortisol should always be considered in Conn's adenomas particularly when atypical radiological features are present.
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PMID:Concurrent secretion of aldosterone and cortisol from an adrenal adenoma - value of MRI in diagnosis. 1115 98

The number of pregnant women receiving immunosuppressive therapy is increasing. Use of immunosuppressants during pregnancy is indicated for anti-rejection therapy in transplantation patients and treatment of autoimmune diseases. Despite the maternal and fetal risks of these pregnancies, the proportion of surviving infants is improving and the possibility that a pregnancy could occur in these women during their childbearing years should be considered. All immunosuppressant drugs and their metabolites cross the placenta, raising questions about the long-term outcome of the children exposed to these agents in utera. There is no increased risk of congenital anomalies. However, there is an elevated incidence of prematurity, intrauterine growth retardation (IUGR) and therefore low birthweight, as well as maternal hypertension and preeclampsia. The most frequent neonatal complications are those associated with prematurity and IUGR, as well as adrenal insufficiency with corticosteroids, immunological disturbances with azathioprine and cyclosporin, and hyperkalemia with tacrolimus. The long-term follow-up of infants exposed to immunosuppressants in utero is still limited and experimental studies raise the question whether there could be an increased incidence at adult age of some pathologies including renal insufficiency, hypertension and diabetes. The follow-up of these infants should be carefully organized and multidisciplinary, taking the perinatal context into account.
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PMID:[Exposure in utero to immunosuppressives]. 1140 Apr

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the 7-dehydrocholesterol reductase gene, DHCR7. The diagnosis is based on the biochemical findings of elevated plasma 7-dehydrocholesterol (7DHC) levels. Adrenal insufficiency with hyponatremia has been reported in 3 patients with severe SLOS; in those cases it was thought to be caused by aldosterone deficiency because it responded to mineralocorticoid replacement. We present a fourth patient with a severe form of SLOS and adrenal insufficiency who had unexplained persistent hypertension, a combination of signs that has not been reported previously in SLOS.
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PMID:Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. 1174 94

A 55-year-old woman was referred to our institution for evaluation of elevated plasma creatine phosphokinase, hypokalemia and hypertension. Her chief complaints were muscle weakness and polyuria. A left adrenal mass, 4 cm in diameter, was noted on computed tomography. Hormonal assessment demonstrated markedly elevated plasma aldosterone concentration, markedly low plasma renin activity, an abnormal diurnal variation in serum cortisol levels, suppressed baseline plasma adrenocorticotrophic hormone, and non-suppression of serum cortisol by dexamethasone suppression test. She showed no symptoms or signs suggestive of Cushing's syndrome. Adrenal scintigraphy with 131I-6-beta-iodomethyl-norcholesterol showed uptake on the left adrenal and inhibition of the contralateral adrenal gland. She was diagnosed with combined primary aldosteronism and preclinical Cushing's syndrome. Cases of combined primary aldosteronism and preclinical Cushing's syndrome are extremely rare. In patients with large aldosterone-producing adenoma, contralateral adrenal insufficiency should be anticipated after the removal of the tumor.
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PMID:Combined primary aldosteronism and preclinical Cushing's syndrome: an unusual case presentation of adrenal adenoma. 1176 34

The number of pregnant women receiving immunosuppressants for anti-rejection therapy or autoimmune diseases is increasing. All immunosuppressive drugs cross the placenta, raising questions about the long-term outcome of the children exposed in utero. There is no higher risk of congenital anomalies. However, an increased incidence of prematurity, intrauterine growth retardation (IUGR) and generally low birth weight has been reported, as well as maternal hypertension and preeclampsia. The most frequent neonatal complications are those associated with prematurity and IUGR, as well as adrenal insufficiency with corticosteroids, immunological disturbances with azathioprine and cyclosporine, and hyperkalemia with tacrolimus. The long-term follow-up of infants exposed to immunosuppressants in utero is still limited and experimental studies raise the question whether there could be an increased incidence at adult age of some pathologies including renal insufficiency, hypertension and diabetes.
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PMID:In utero exposure to immunosuppressive drugs. 1184 73


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