Collagen is the most abundant protein in humans. It has a characteristic triple-helix structure and heavily posttranslationally modified. The complex biosynthesis of collagen involves processing by many enzymes chaperones rough endoplasmic reticulum. Lysyl hydroxylase 1 (LH1) required to hydroxylate lysine for cross-linking carbohydrate attachment within triple helical sequences. Additionally, ...

Combined 17alpha-hydroxylase/17,20-lyase deficiency is a rare, autosomal recessive form of congenital adrenal hyperplasia characterized by the coexistence of hypertension, caused by the hyperproduction of mineralocorticoid precursors and DSD in males and sexual infantilism in females, due to impaired production of sex hormones. Several CYP17 mutations resulting in 17alpha-hydroxylase/17,20-lyas...

Androgen and estrogen biosynthesis in mammals requires the 17,20-lyase activity of cytochrome P450 17A1 (steroid 17-hydroxylase/17,20-lyase). Maximal 17,20-lyase activity in vitro requires the presence of cytochrome b5 (b5), and rare cases of b5 deficiency in human beings causes isolated 17,20-lyase deficiency. To study the consequences of conditional b5 removal from testicular Leydig cells in ...

Background: 17α-hydroxylase deficiency is a rare cause of congenital adrenal hyperplasia and endocrine hypertension. Only around 124 cases were reported in literature. Case: A 35-year-old Taiwanese female presented with severe hypertension (220/130 mmHg), absence of secondary sexual characteristics and primary amenorrhea. Chromosome study revealed 46XX karyotye. The laboratory data revealed hyp...

Patients with autonomic failure secondary to dopamine /3-hydroxylase deficiency lack the enzyme activity necessary for the conversion of dopamine to norepinephrine in sympathetic nerve terminals and the adrenal medulla. These patients have virtually undetectable norepinephrine and epinephrine in plasma and cerebrospinal fluid. The presence of intact sympathetic nerve activity in these patients ...

Patients with autonomic failure secondary to dopamine beta-hydroxylase deficiency lack the enzyme activity necessary for the conversion of dopamine to norepinephrine in sympathetic nerve terminals and the adrenal medulla. These patients have virtually undetectable norepinephrine and epinephrine in plasma and cerebrospinal fluid. The presence of intact sympathetic nerve activity in these patient...

A single measurement of serum 17α-hydroxyprogesterone (17OHP) level can be unreliable because of its marked diurnal variation. We investigated the relationship of serum level of 17OHP with that of androstenedione (AD), which shows a smaller diurnal variation. And we tested whether the responses of these two hormones to low-dose ACTH stimulation are correlated in patients with 21-hydroxylase def...

Congenital adrenal hyperplasia (CAH) applies to a family of inherited disorders of steroidogenesis caused by an abnormality in one of the five enzymatic steps necessary in the conversion of cholesterol to cortisol. The enzyme defects are transmitted as an autosomal recessive trait. Patients with a "classical" form of CAH usually present during the neonatal and early infancy period with adrenal ...

We determined whether a child with 17α-hydroxylase/17, 20-lyase deficiency possessed the sex-determining region (SRY) gene, and examined the mutations present in the CYP17A1 gene that led to 17α-hydroxylase/17, 20-lyase deficiency. In the child, karyotype analysis was performed and polymerase chain reaction analysis and electrophoretic techniques were used to identify the SRY gene. A total of 5...

The concentration of 170H-progesterone was measured in amniotic fluid samples collected from 55 mothers who had previously had a child with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. In eight pregnancies the levels of 170H-progesterone were raised; the parents elected to terminate in four and examinations of the fetus confirmed the diagnosis of congenital adrenal hyperplas...