- Joined
- Apr 14, 2013
- Messages
- 1
- Reaction score
- 0
1,25 di OH D3
Under normal conditions Vit D acts to raise plasma Ca+ and phosphate
Vit D promotes bone deposition, as follow: 1) 1,25 di OH D3, increases the absorption of Ca+ and phosphate by the GI tract.
2) 1,25 di OH D3 increases the reabsorption of Ca+ by renal distal tubule.
3) At high activity levels 1,25 di OH D3 increases the resorption of Ca+ and phosphate from bone.
4-hydroxyphenylpyruvate
Dioxygenase Deficiency causes Tyrosinemia, but not bleeding
Dioxygenase Differential Dx with Vit C Deficiency + normal prothombin time cause HYPERTYROSINEMIA (low Prolyl hydroxylase)
5-alpha Reductase Deficiency
↑ testosterone: Dihydrotestorone (DHT) ratio are Dx of Male Undervirilization (also called Pseudovaginal Perineoscrotal Hypospadias)
In utero differentiaton of Wolffian ducts into the normal male phenotyc internal reproductive tract requires testosterone, but not dihydrostestoreone.
On the other hand, differentiation of the indifferent external genital slit into the penis, prostate, and scrotum does require dihydrostestoterone.
A congenital absence of 5 alpha-reductase in these tissues will result Feminization (Male Undervirilization)
If left untreated, the affected individuals are generally phenotypic females until puberty, at which time, ↑ amounts of testoreone = Virilization = "Penis-at-12 Sx"
If discovered early, a male gender assignment can be supported w/administration of dihydrostestosterone to ↑ penis size.
Under normal conditions Vit D acts to raise plasma Ca+ and phosphate
Vit D promotes bone deposition, as follow: 1) 1,25 di OH D3, increases the absorption of Ca+ and phosphate by the GI tract.
2) 1,25 di OH D3 increases the reabsorption of Ca+ by renal distal tubule.
3) At high activity levels 1,25 di OH D3 increases the resorption of Ca+ and phosphate from bone.
4-hydroxyphenylpyruvate
Dioxygenase Deficiency causes Tyrosinemia, but not bleeding
Dioxygenase Differential Dx with Vit C Deficiency + normal prothombin time cause HYPERTYROSINEMIA (low Prolyl hydroxylase)
5-alpha Reductase Deficiency
↑ testosterone: Dihydrotestorone (DHT) ratio are Dx of Male Undervirilization (also called Pseudovaginal Perineoscrotal Hypospadias)
In utero differentiaton of Wolffian ducts into the normal male phenotyc internal reproductive tract requires testosterone, but not dihydrostestoreone.
On the other hand, differentiation of the indifferent external genital slit into the penis, prostate, and scrotum does require dihydrostestoterone.
A congenital absence of 5 alpha-reductase in these tissues will result Feminization (Male Undervirilization)
If left untreated, the affected individuals are generally phenotypic females until puberty, at which time, ↑ amounts of testoreone = Virilization = "Penis-at-12 Sx"
If discovered early, a male gender assignment can be supported w/administration of dihydrostestosterone to ↑ penis size.