Laboratory of Molecular Endocrinology
Adrenal glands
Congenital Adrenal Hyperplasia
- 21 Hydroxylase Deficiency – CYP21A2 Gene
- 11β Hydroxylase Deficiency – CYP11B1 Gene
- HSD 3β2 deficiency – HSD 3β2 gene
Adrenal hypoplasia
Genes: NR0B1-DAX1 , NR5A1-SF1
Fatty Adrenal Hyperplasia
StAR gene
Resistance to saline corticosteroids
- Hypoaldosteronism – CYP11B2 gene
- Pseudo-hypoaldosteronism – Genes: NR3C2, SCNN1A
Resistance to glucocorticoids
NR3C1 gene
Lack of glucocorticoids
MC2R gene
Hyperaldosteronism
- Chimeric gene CYP11B1 / CYP11B2
- Control of hyperaldosteronism III with CES / WES and
- Control of hyperaldosteronism III – KCNJ5 gene
Excess Salt Corticosteroids
HSD11B2 Gene
B) INFORMATION NOTE FOR HYPALDOSTERONISM
D) CONSENT FORM
E) INSTRUCTIONS FOR BLOOD DRAWING AND SHIPPING