Dopamine beta-hydroxylase (DbetaH) deficiency is a very rare form of primary autonomic failure characterized by a complete absence of noradrenaline and adrenaline in plasma together with increased dopamine plasma levels. The prevalence of DbetaH deficiency is unknown. Only a limited number of cases with this disease have been reported. DbetaH deficiency is mainly characterized by cardiovascular...

Congenital adrenal hyperplasia (CAH) is one of the most common metabolic diseases. It is caused by a severe or partial impairment of adrenal steroidogenesis affecting cortisol biosynthesis. Approximately 5–8% of all cases are due to steroid 11b-hydroxylase deficiency (11OHD; OMIM +202010), which occurs in approximately 1:100,000 to 1:200,000 live births in non consanguineous populations. Mutati...

P450 oxidoreductase (POR) deficiency is an autosomal recessive disorder of steroidogenesis with multiple clinical manifestations. POR is the electron donor for all microsomal P450 enzymes, including the three steroidogenic enzymes P450c17 (17alpha-hydroxylase/17,20-lyase), P450c21 (21-hydroxylase), and P450aro (aromatase). Since the first description of POR mutations in 2004, about 50 patients ...

The CYP17A1 gene encodes the enzyme P450c17, which mediates both 17α-hydroxylase and 17,20-lyase activities and is essential for production of cortisol and sex steroids. Loss-of-function mutations of this gene cause 17α-hydroxylase/17,20-lyase deficiency, characterized by hypertension, hypokalemia and sexual infantilism. A 6-year-old phenotypically female patient presented with hypertension and...

Aim to determine the optimal tactics for examination and treatment of patients with macronadular bilateral adrenal hyperplasia.
 Material methods. The study included 11 macronodular hyperplasia (main group). To compare biochemical parameters, results 26 healthy people were studied (control group).
 Results. characterized by deficiency 11-hydroxylase, 21-hydroxylase, 11-hydroxysteroid ...

Although congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase deficiency generally reveals a predominance of Delta(5)-3beta-hydroxysteroids, on occasion substantial quantities of pregnanetriol have been found as well. It appears that the latter steroid more often occurs in the subjects who have survived beyond infancy. The use of the measurement of pregnanetriol alone may th...

17-α-hydroxylase enzyme has a crucial role in the steroid biosynthesis and, deficiency of this enzyme is an autosomal recessive monogenic disorder which is one of the two hypertensive form of congenital adrenal hyperplasia. It is characterized with the deficiency in glucocorticoid, adrenal androgen, and sex steroid synthesis with concomitant mineralocorticoid excess due to genetic defect in ste...

17α-hydroxylase and 17,20-lyase are enzymes encoded by the CYP17A1 gene and are required for the synthesis of sex steroids and cortisol. In 17α-hydroxylase deficiency, there are low blood levels of estrogens, androgens, and cortisol, and resultant compensatory increases in adrenocorticotrophic hormone that stimulate the production of 11-deoxycorticosterone and corticosterone. In turn, the exces...