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)

Classic congenital 11-beta-hydroxylase deficiency is a relatively uncommon cause of congenital adrenal hyperplasia and is characterized by virilization and often hypertension. The association of skeletal abnormalities (short metatarsal bone) and pulmonary stenosis in a patient with 11-beta-hydroxylase has been reported by our group. In this report, three new patients with congenital adrenal hyperplasia due to a defect in 11-beta-hydroxylase enzyme with short fourth metatarsals are described. Gynecomastia was noted in one patient. The relative rarity of 11-beta-hydroxylase deficiency and the association of skeletal abnormalities suggest the possibility that this is more than a mere coincidental finding.
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PMID:Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency with skeletal abnormalities. 879 41

For a number of rare adrenal disorders, some of which are life threatening in childhood, laboratories need access to specialist endocrine investigations. Measurements of hormones in blood samples may be diagnostic in some cases but not all of the requisite steroid hormone assays are available. Multiple plasma steroid measurements may be required to prove the nature of a steroid biosynthetic disorder but in newborn children immunoassays, performed without prior solvent extraction, can be misleading. A urine steroid profile by gas chromatography coupled with mass spectrometry examines many steroid metabolites simultaneously and provides specific diagnostic information. A urine steroid profile can provide precise information of the secretory nature of tumours and causes of virilization, salt loss and hypertension often from a spot urine sample rather than a 24 h collection. However, a steroid profile is not helpful in making a diagnosis in neonatal genetic males with poorly developed genitalia.
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PMID:Clinical indications for the use of urinary steroid profiles in neonates and children. 902 87

Two cases of adrenal cortical carcinoma in the pediatric age group are reported: the first case regards a fourteen month old female patient which presented with virilization and Cushing's syndrome: the second case regards a twelve year old boy with severe hypertension. Histopathologic distinction between benign and malignant adrenal cortical neoplasms is difficult: the usual cytologic criteria of benignity and malignancy in relation to prognosis are not very helpful while tumor size and tumor invasion appear to be the more important prognostic factors. Therefore early diagnosis, which is easier in the pediatric age because of the more frequent presentation of these neoplasms with hormonal effects, is essential.
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PMID:[Adrenal cortex neoplasms in children: diagnostic and therapeutic difficulties]. 904 94

Patients with familial cortisol resistance have continuously elevated serum cortisol without any clinical manifestations of Cushing's syndrome due to hyposensitivity to cortisol in all tissues including the hypothalamus and the pituitary. Clinical symptoms of the disease are hypertension with hypokalemia and hyporeninemia, virilism in women and mild general fatigue. As the cause of the disease, a defect in glucocorticoid receptor affinity or binding capacity due to mutations in the glucocorticoid receptor gene has been reported. Another cause of the disease is the presence of heat labile glucocorticoid receptor. In 4 of 5 families with cortisol resistance reported so far, mutations of the glucocorticoid receptor gene have been demonstrated.
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PMID:[Familial cortisol resistance and mutations of the glucocorticoid receptor gene]. 970 71

We describe a rare androgen and desoxycorticosterone (DOC)-secreting adrenal tumor in a non-Cushingoid 14 year-old Haitian girl with secondary amenorrhea, hypertension and virilization. Her steroid pattern simulated an 11 beta-hydroxylation defect with notable elevation of adrenal androgens, 11-desoxycortisol (S), DOC, 17 alpha-hydroxyprogesterone and pregnenelone. Exogenous ACTH stimulated steroidogenesis. A CAT scan unfortunately failed to delineate an adrenal mass. Dexamethasone (DEX) was administered, therefore, which partially suppressed androgen levels, reduced DOC and S by 80% and 82% respectively, and normalized blood pressure. Nevertheless, the response to glucocorticoid was incomplete and an MRI was obtained, which revealed a right adrenal tumor. Post surgery, the patient promptly resumed menses and became normotensive. This case illustrates that ACTH and DEX cannot reliably differentiate tumor from hyperplasia, whereas the simultaneous increase of delta 4 and delta 5 steroids, present here, may favor a tumor. This case also allows speculation that the hypersecretion of DOC may result from inhibition of 11 beta-hydroxylase activity by excess androgens. The importance of appropriate imaging for diagnosis is underscored.
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PMID:Hypertension and virilization caused by a unique desoxycorticosterone- and androgen-secreting adrenal adenoma. 1039 70

Our research team and laboratories have concentrated on two inherited endocrine disorders, congenital adrenal hyperplasia (CAH) and apparent mineralocorticoid excess, in thier investigations of the pathophysiology of adrenal steroid hormone disorders in children. CAH refers to a family of inherited disorders in which defects occur in one of the enzymatic steps required to synthesize cortisol from cholesterol in the adrenal gland. Because of the impaired cortisol secretion, adrenocorticotropic hormone levels rise due to impairment of a negative feedback system, which results in hyperplasia of the adrenal cortex. The majority of cases is due to 21-hydroxylase deficiency (21-OHD). Owing to the blocked enzymatic step, cortisol precursors accumulate in excess and are converted to potent androgens, which are secreted and cause in utero virilization of the affected female fetus genitalia in the classical form of CAH. A mild form of the 21-OHD, termed nonclassical 21-OHD, is the most common autosomal recessive disorder in humans, and occurs in 1/27 Ashkenazic Jews. Mutations in the CYP21 gene have been identified that cause both classical and nonclassical CAH. Apparent mineralocorticoid excess is a potentially fatal genetic disorder causing severe juvenile hypertension, pre- and postnatal growth failure, and low to undetectable levels of potassium, renin, and aldosterone. It is caused by autosomal recessive mutations in the HSD11B2 gene, which result in a deficiency of 11beta-hydroxysteroid dehydrogenase type 2. In 1998, we reported a mild form of this disease, which may represent an important cause of low-renin hypertension.
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PMID:Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. 1053 1

Adrenocortical tumors are rare in childhood, appearing more frequently in some regions such as South and South-eastern regions of Brazil and India. Common clinical signs include virilization, Cushing's syndrome, feminization and hypertension, either isolated or in association. The aim of this report is to present our experience with the pre-operative use of ketoconazole in children with an adrenocortical tumor to control elevated blood pressure levels non-responsive to the usual treatment. Over the last 16 years, of 46 children diagnosed as having adrenocortical tumor, 17 developed hypertension (diastolic pressure greater than the 95th percentile for age and sex according to data from the Task Force on Blood Pressure Control in Children), associated with virilization and/or Cushing's syndrome. In three of these 17 patients, conventional antihypertensive therapy failed, and they were treated with ketoconazole (200-300 mg/day). This resulted in rapid control of the blood pressure. It is concluded that in selected patients, ketoconazole may be useful adjuvant therapy for the palliative control of the arterial hypertension secondary to adrenocortical tumors, without side effects.
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PMID:Pre-operative control of arterial hypertension using ketoconazole in pediatric patients with adrenocortical tumors. 1071 67

Adrenal myelolipoma is an uncommon benign tumor usually discovered by chance in patients with hypertension, obesity, atherosclerosis, cancer or endocrine disorders. The association with adrenal endocrine dysfunctions appears to be the most frequent. Myelolipoma has been found in patients affected by Cushing's syndrome, hyperaldosteronism, Addison's disease, virilization. We report herein a case of association, based on clinical and radiological signs, between myelolipoma and adrenal adenoma in a patient with Conn's disease. The myelolipoma was localized in the opposite adrenal gland to that of adenoma, at difference with the other cases described.
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PMID:[Adrenal adenoma and myelolipoma in an elderly patient with Conn's syndrome]. 1076 42

Blood pressure is determined by the product of cardiac output, intravascular volume, and peripheral resistance. Because hormones are involved in blood pressure regulation and affect these parameters, hypertension is a prominent feature of certain adrenal enzymatic abnormalities. In this report, two steroid-dependent forms of genetic low-renin hypertension are examined: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess. 11beta-Hydroxylation is an enzymatic function necessary for the biosynthesis of cortisol by the zona fasciculata (ZF) of the adrenal cortex. Defects in this step lead to the abnormally increased production by the ZF of the steroid 11-deoxycorticosterone (DOC), a moderately potent mineralocorticoid, which causes sodium retention and volume expansion that result in hypertension. Further, the excess production of adrenal androgens leads to virilization, prenatally in the genetic female, and postnatally in both sexes. The disorder of 11beta-hydroxylase deficiency is due to an autosomal recessive defect of the enzyme protein-encoding gene CYP11B1. Numerous mutations in CYP11B1 causing 11beta-hydroxylase deficiency have been characterized. Apparent mineralocorticoid excess is a potentially fatal genetic disorder causing severe juvenile hypertension, pre- and postnatal growth failure, and low to undetectable levels of potassium, renin, and aldosterone. It is caused by autosomal recessive mutations in the HSD11B2 gene, which result in a deficiency of 11beta-hydroxysteroid dehydrogenase type 2 (11beta-HSD2).
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PMID:Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess. 1115 48

Adrenocortical tumors are very rare in children. The records of seven patients (four boys and three girls) who attended Srinagarind Hospital between January 1986 and September 2000 were retrospectively reviewed. Virilization and hypertension were found in four patients, two of whom had untreated congenital adrenal hyperplasia. Hypertension or virilization was the single manifestation found in two other patients. Only one patient showed clinical symptoms of Cushing's syndrome and another nonfunctioning tumor in Down's syndrome. Abdominal ultrasonography was helpful in locating the tumors. Unilateral tumors were found in all of the patients and surgical exploration was done in six of them. Pathological examination revealed four adrenocortical carcinomas, one adrenal gland hyperplasia and one lipoma. The two patients in which the cancer metastasized to the liver and lungs died 1 and 1 1/2 months after diagnosis, respectively. The authors concluded that virilization and hypertension remain the primary diagnostic symptoms of adrenocortical tumors in children. Early detection and adrenalectomies prolonged the survival time in these patients.
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PMID:Adrenocortical tumors in children. 1133 77


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