Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase-Deficiency: 13 Years of Neonatal Screening and Follow-up in Bavaria

2015 ◽  
Vol 227 (05) ◽  
pp. 278-283 ◽  
Author(s):  
B. Odenwald ◽  
H.-G. Dörr ◽  
W. Bonfig ◽  
H. Schmidt ◽  
R. Fingerhut ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Neonatal Screening ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Classic Congenital Adrenal Hyperplasia ◽  
21 Hydroxylase Deficiency

scholarly journals Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Heves Kırmızıbekmez ◽  
Rahime Gül Yesiltepe Mutlu ◽  
Serdar Moralıoğlu ◽  
Ahmet Tellioğlu ◽  
Ayşenur Cerrah Celayir
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Growth Retardation ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
Significant Regression ◽  
One Year ◽  
The One ◽  
21 Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) is a group of inherited defects of cortisol biosynthesis. A case of classical CAH due to 21-hydroxylase deficiency (21-OHD) with early onset of salt waste and concurrence of meningomyelocele (MMC) was presented here. The management of salt-wasting crisis which is complicated by a postrenal dysfunction due to neurogenic bladder was described. Possible reasons of growth retardation in the one-year follow-up period were discussed. A significant regression of the phallus with proper medical treatment was also mentioned.

Diagnosis, treatment and preventive measures in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in patients in adulthood

2016 ◽  
Vol 3 (1) ◽  
pp. 26-32
Author(s):  
Natalya V. Molashenko ◽  
A. I Sazonova ◽  
E. A Troshina
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Replacement Therapy ◽  
Diagnostic Tests ◽  
Preventive Measures ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

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.

Benefits of Neonatal Screening for Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) in Sweden

PEDIATRICS ◽  
1998 ◽  
Vol 101 (4) ◽  
pp. e11-e11 ◽  
Author(s):  
Astrid Thilén ◽  
Anna Nordenström ◽  
Lars Hagenfeldt ◽  
Ulrika von Döbeln ◽  
Claes Guthenberg ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Neonatal Screening ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

scholarly journals Neonatal Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

1986 ◽  
Vol 62 (6) ◽  
pp. 683-696 ◽  
Author(s):  
Masaru FUKUSHI ◽  
Osamu ARAI ◽  
Yoshikiyo MIZUSHIMA ◽  
Nobuo TAKASUGI ◽  
Kenji FUJIEDA ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Neonatal Screening ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency
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