Russian Association of Endocrinologists clinical practice guidelines for diagnosis, treatment and preventive measures in congenital adrenal hyperplasia due to 21-hydroxylase deficiency patients in adulthood

2016 ◽  
Vol 18 (4) ◽  
pp. 8-19
Author(s):  
G.A. Melnichenko ◽  
◽  
E.A. Troshina ◽  
N.V. Molashenko ◽  
A.I. Sazonova ◽  
...  
2014 ◽  
Vol 60 (2) ◽  
pp. 42-50 ◽  
Author(s):  
M A Kareva ◽  
I S Chugunov

Clinical practice guidelines on Congenital Adrenal Hyperplasia (CAH) give a brief review of epidemiology, etiology and pathogenesis of all disease causative steroidogenic defects. Recommendations on neonatal screening and management of early-diagnosed CAH due 21-hydroxylase deficiency were given in details. We also included the algorithm for the hormonal treatment and management of the patients of different age. Prenatal and preimplantation genetic diagnosis of 21-hydroxylase deficiency has been also discussed.


2016 ◽  
Vol 3 (1) ◽  
pp. 26-32
Author(s):  
Natalya V. Molashenko ◽  
A. I Sazonova ◽  
E. A Troshina

In the article there are presented main approaches to the diagnosis, treatment and follow-up of patients with classical and nonclassical forms of 21-hydroxylase deficiency. The techniques of diagnostic tests and parameters of hormonal indices for the assessment of the adequacy of replacement therapy with glucocorticoids and mineralocorticoids are considered.


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