18 New Form of Congenital Adrenal Hyperplasia

M, New; Peterson, Ralph E.; McCrory, Wallace W.

doi:10.1203/00006450-196705000-00025

Cited by 15 publications

(18 citation statements)

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“…It is characterized by hypersecretion of aldosterone, in the face of a low plasma renin activity (6,7), and the production of two normally rare steroids, 18-hydroxycortisol and 18-oxocortisol (8)(9)(10), which require the simultaneous presence of a 17a-hydroxylase activity and the two C18 activities typical of the CYP1lB2 enzyme. All symptoms of the disease are normalized by the administration of glucocorticoid analogues and are exacerbated by administration of ACTH (6,7). Thus, the disease can be viewed as one in which the activities characteristic of the CYPJJB2 gene product are inappropriately expressed in the zona fasciculata under the control of ACTH.…”

Section: Introductionmentioning

confidence: 99%

Glucocorticoid-suppressible hyperaldosteronism and adrenal tumors occurring in a single French pedigree.

Pascoe¹,

Jeunemaı̂tre²,

Lebrethon³

et al. 1995

J. Clin. Invest.

132

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Glucocorticoid-suppressible hyperaldosteronism is a dominantly inherited form of hypertension believed to be caused by the presence of a hybrid CYP1IB1/CYPJ1B2 gene which has arisen from an unequal crossing over between the two CYPJJB genes in a previous meiosis. We have studied a French pedigree with seven affected individuals in which two affected individuals also have adrenal tumors and two others have micronodular adrenal hyperplasia. One of the adrenal tumors and the surrounding adrenal tissue has been removed, giving a rare opportunity to study the regulation and action of the hybrid gene causing the disease. The hybrid CYPIIB gene was demonstrated to be expressed at higher levels than either CYPlJBI or CYPIJB2 in the cortex of the adrenal by RT-PCR and Northern blot analysis. In situ hybridization showed that both CYPIJBI and the hybrid gene were expressed in all three zones of the cortex. In cell culture experiments hybrid gene expression was stimulated by ACTH leading to increased production of aldosterone and the hybrid steroids characteristic of glucocorticoid-suppressible hyperaldosteronism. The genetic basis of the adrenal pathologies in this family is not known but may be related to the duplication causing the hyperaldosteronism. (J. Clin. Invest. 1995. 96:2236-2246

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Section: Introductionmentioning

confidence: 99%

Glucocorticoid-suppressible hyperaldosteronism and adrenal tumors occurring in a single French pedigree.

Pascoe¹,

Jeunemaı̂tre²,

Lebrethon³

et al. 1995

J. Clin. Invest.

132

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“…FHA-I is a rare form of PA and may be diagnosed in patients with a family history of hypertension. 37,38 FHA-I is caused by an unequal cross-over between the CYP11B1 (11b-hydroxylase) and CYP11B2 (aldosterone synthase) genes. 39,40 This results in a chimeric CYP11B1/CYP11B2 gene, which puts aldosterone synthase activity under the control of corticotropin.…”

Section: Discussionmentioning

confidence: 99%

Sporadic solitary aldosterone- and cortisol-co-secreting adenomas: endocrine, histological and genetic findings in a subtype of primary aldosteronism

et al. 2010

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Adrenal adenomas producing both aldosterone and cortisol (A/CPAs) have been described in only a few cases. Correct subtype classification is necessary for making therapeutic decisions in primary aldosteronism (PA). Therefore, we studied in detail the clinical, hormonal and histological features of this entity in two patients with A/CPAs. We describe two patients with A/CPA and present their endocrine evaluations at baseline, after suppression with fludrocortisone and dexamethasone, after therapy with spironolactone and after unilateral adrenalectomy. Moreover, the expression of corticotropin (MC2R) and angiotensin II type 1 (AT1R) receptors and 17a-hydroxylase in the tumors of these two patients was analyzed by immunohistochemistry. Aldosterone, 18-hydroxycorticosterone (18-OH-B) and 18-hydroxycortisol (18-OH-F) were not suppressible with fludrocortisone in either patient and were partly suppressible with dexamethasone in one of the patients. Adrenal insufficiency developed in both patients after operation and lasted for more than 6 months. Aldosterone and hybrid corticosteroids returned to normal 8 weeks after adrenalectomy. In both cases, immunostaining showed weak expression of AT1R and MC2R but strong expression of 17a-hydroxylase. The most common germline mutations in the aldosterone synthase gene and the aldosterone synthase/11b-hydroxylase hybrid gene were absent. These two cases document the fact that sporadic A/CPA is a subtype of PA. The presence of an A/CPA should be considered if a patient has both PA and hypercortisolism.

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“…Two siblings, a 14-year old male (case 3) and a 13 year old female (case 4), and a third patient, a 19 year old male (case 5), with hypertension and dexamethasonesuppressible hyperaldosteronism (DSH) described in previous report (New & Peterson 1967;New et al 1973New et al , 1976. Cases 3 and 4 were newly diagnosed, while in case 5 therapy with prednisolone 5 mg b. i. d. was dis¬ continued 10 days before the present study began.…”

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confidence: 85%

Mineralocorticoid and metabolic response to metyrapone in normotensive children and children with dexamethasone-suppressible and primary hyperaldosteronism

Sonino

Levine

New

1981

Acta Endocrinologica

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The effect of 5 to 9 days of metyrapone administration (400 mg/m2 every 4 h) on aldosterone, deoxycorticosterone, plasma renin activity, electrolyte balance, and blood pressure was investigated in 2 normotensive siblings (one of whom showed limited ACTH reserve), in 3 patients with hypertension and dexamethasone-suppressible hyperaldosteronism, and in a hypertensive patient with primary hyperaldosteronism due to bilateral adrenal hyperplasia. Results: 1. Plasma and urinary aldosterone levels were steadily suppressed by metyrapone in all cases, except in the oldest patient studied who had dexamethasonesuppressible hyperaldosteronism and in whom, after a few days, aldosterone gradually rose to normal levels. 2. Mild mineralocorticoid effect occurred only in the normal subject. In all other patients there was no apparent mineralocorticoid effect despite deoxycorticosterone hypersecretion. 3. There was no significant change in blood pressure with metyrapone administration in any patient.

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18 New Form of Congenital Adrenal Hyperplasia

Cited by 15 publications

References 0 publications

Glucocorticoid-suppressible hyperaldosteronism and adrenal tumors occurring in a single French pedigree.

Glucocorticoid-suppressible hyperaldosteronism and adrenal tumors occurring in a single French pedigree.

Sporadic solitary aldosterone- and cortisol-co-secreting adenomas: endocrine, histological and genetic findings in a subtype of primary aldosteronism

Mineralocorticoid and metabolic response to metyrapone in normotensive children and children with dexamethasone-suppressible and primary hyperaldosteronism

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