Hypoaldosteronism in three sibs due to 18-dehydrogenase deficiency.

Hamilton, W. F.; McCandless, A E; Ireland, J. T.; Gray, C. E.

doi:10.1136/adc.51.8.576

Cited by 23 publications

(8 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This is mainly due to the observation of Rösler [20]who published data of 21 patients of Iranian Jewish origin with selective aldosterone deficiency due to aldosterone synthase deficiency type II. This preponderance of aldosterone synthase deficiency type II deficiency is also reflected in the overall published case reports [2, 4, 5, 21, 22, 23, 24, 25, 26, 27, 28]. In contrast to this, our material which is the largest series of unrelated patients diagnosed strictly by the same methodology, indicates a comparable frequency of both types of aldosterone synthase deficiency [29, 30].…”

Section: Disorders Of the Aldosterone Synthase And Steroid 11β-hydroxcontrasting

confidence: 51%

“…All affected children present with frequent vomiting, failure to thrive, and severe, life-threatening salt loss in the first weeks of life. In most of the published clinical case reports, no differences in the severity of clinical signs between young infants with aldosterone synthase deficiency type I and aldosterone synthase deficiency type II have been observed [2, 4, 5, 21, 22, 23, 24, 25, 26, 27, 28]. Rösler [20]has shown that in each affected individual the clinical severity of the disease decreases with age.…”

Section: Disorders Of the Aldosterone Synthase And Steroid 11β-hydroxmentioning

confidence: 99%

See 1 more Smart Citation

Disorders of the Aldosterone Synthase and Steroid 11β-Hydroxylase Deficiencies

Peter¹,

Dubuis²,

Sippell³

1999

Horm Res Paediatr

View full text Add to dashboard Cite

The most potent corticosteroids are 11β-hydroxylated compounds. In humans, two cytochrome P450 isoenzymes with 11β-hydroxylase activity, catalysing the biosynthesis of cortisol and aldosterone, are present in the adrenal cortex. CYP11B1, the gene encoding 11β-hydroxylase (P450c11), is expressed on high levels in the zona fasciculata and is regulated by ACTH. CYP11B2, the gene encoding aldosterone synthase (P450c11Aldo), is expressed in the zona glomerulosa under primary control of the renin-angiotensin system. Aldosterone synthase has 11β-hydroxylase activity as well as 18-hydroxylase activity and 18-oxidase activity. The substrate for CYP11B2 is 11-deoxycorticosterone, that of CYP11B1 is 11-deoxycortisol. Mutations in CYP11B1 cause congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency. This disorder is characterized by androgen excess and hypertension. Mutations in CYP11B2 cause congenital hypoaldosteronism (aldosterone synthase deficiency) which is characterized by life-threatening salt loss, failure to thrive, hyponatraemia and hyperkalaemia in early infancy. Both disorders have an autosomal recessive inheritance. Classical and nonclassical forms of 11β-hydroxylase deficiency can be distinguished. Studies in heterozygotes for classical 11β-hydroxylase deficiency show inconsistent results with no or only mild hormonal abnormalities (elevated plasma levels of 11-deoxycortisol after ACTH stimulation). In infants with congenital hypoaldosteronism, a comparable frequency of 18-hydroxylase deficiency (aldosterone synthase deficiency type I) and of 18-oxidase deficiency (aldosterone synthase deficiency type II) can be found. Molecular genetic studies of the CYP11B1 and CYP11B2 genes in 11β-hydroxylase deficiency or aldosterone synthase deficiency have led to the identification of several mutations. Transfection experiments showed loss of enzyme activity in vitro. In some of the patients with 18-oxidase deficiency (aldosterone synthase deficiency type II) no mutations in the CYP11B2 gene were identified. Refined methods for steroid determination are the basis for the diagnosis of inborn errors of steroidogenesis. Molecular genetic studies are complementary; on the one hand, they have practical importance for the prenatal diagnosis of virilizing CAH forms and on the other hand, they are of theoretical importance in terms of our understanding of the functioning of cytochrome P450 enzymes.

show abstract

Section: Disorders Of the Aldosterone Synthase And Steroid 11β-hydroxcontrasting

confidence: 51%

Section: Disorders Of the Aldosterone Synthase And Steroid 11β-hydroxmentioning

confidence: 99%

Disorders of the Aldosterone Synthase and Steroid 11β-Hydroxylase Deficiencies

Peter¹,

Dubuis²,

Sippell³

1999

Horm Res Paediatr

View full text Add to dashboard Cite

show abstract

“…Nevertheless, the challenge of salt restriction performed beyond early life in the present study resulted in hypovolemia and dehydration, thus uncovering the persistent difficul ty in conserving salt and water. Most cases of selective hypoaldosteronism have been adequately treated with mineralocorticoid treatment (3,6). It appears that continued mineralocorticoid administration was necessary to maintain adequate growth rate in the twins presented in our study.…”

Section: Discussionmentioning

confidence: 99%

Congenital Hypoaldosteronism

Katznelson¹,

Sack²,

Kraiem³

et al. 1979

Horm Res

View full text Add to dashboard Cite

Identical male twins suffering from congenital hypoaldosteronism due to a rare adrenal enzyme deficiency between corticosterone and aldosterone were followed-up from birth till their present age of 13 years. The symptoms of salt loss disappeared and normal growth rate resumed following treatment with DOCA and salt supplementation. Discontinuation of mineralocorticoid administration at the age of 7 years resulted during a 5-year period in a marked decline in their growth rate. Laboratory data revealed a persistent, albeit less pronounced, metabolic impairment. Mineralocorticoid administration was resumed and the twins entered normal puberty and increased their growth rate, emphasizing their need for continued mineralocorticoid administration to maintain adequate growth rate and development.

show abstract

“…Initial laboratory investigations revealed the following values: plasma sodium, 125 mEq/L; potassium, 6.3 mEq/L; chlo¬ ride, 93 mEq/L; glucose, 120 mg/dL; plasma urea nitrogen, 30 mg/dL; and serum creatinine, 0.5 mg/dL. The venous pH was 7.36; Pco2, 25 mm Hg; and bicarbonate, 13 Corticosterone, µg/c¡L 12.9 Aldosterone, ng/dL to normal. However, when an attempt was made to reintroduce oral fluids, the patient refused to suck, had frequent postprandial vomiting, and became noticeably lethargic.…”

Section: Report Of a Casementioning

confidence: 99%

Selective Hypoaldosteronism in Infancy

Curtis¹

1983

Am J Dis Child

View full text Add to dashboard Cite

Hypoaldosteronism in three sibs due to 18-dehydrogenase deficiency.

Cited by 23 publications

References 8 publications

Disorders of the Aldosterone Synthase and Steroid 11β-Hydroxylase Deficiencies

Disorders of the Aldosterone Synthase and Steroid 11β-Hydroxylase Deficiencies

Congenital Hypoaldosteronism

Selective Hypoaldosteronism in Infancy

Contact Info

Product

Resources

About