First Trimester Prenatal Treatment and Molecular Genetic Diagnosis of Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency)

1990 ◽  
Vol 45 (10) ◽  
pp. 707-709
Author(s):  
PHYLLIS W. SPEISER ◽  
NICOLA LAFORGIA ◽  
KOJI KATO ◽  
JUDITH PAREIRA ◽  
RAFIYA KHAN ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
First Trimester ◽  
Prenatal Treatment ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Molecular Genetic Diagnosis ◽  
21 Hydroxylase Deficiency

Federal clinical practice guidelines on the management of the patients presenting with congenital adrenal hyperplasia

2014 ◽  
Vol 60 (2) ◽  
pp. 42-50 ◽  
Author(s):  
M A Kareva ◽  
I S Chugunov
Keyword(s):  
Clinical Practice ◽  
Congenital Adrenal Hyperplasia ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Neonatal Screening ◽  
Genetic Diagnosis ◽  
Hormonal Treatment ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

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.

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