Prenatal Diagnosis and Treatment of Adrenogenital Syndrome (Steroid 21-Hydroxylase Deficiency)

1990 ◽  
Vol 15 (3-4) ◽  
pp. 200-210 ◽  
Keyword(s):  
Prenatal Diagnosis ◽  
Diagnosis And Treatment ◽  
Hydroxylase Deficiency ◽  
Adrenogenital Syndrome ◽  
21 Hydroxylase Deficiency

Prenatal diagnosis and successful intrauterine treatment of a female fetus with 21‐hydroxylase deficiency

1990 ◽  
Vol 156 (2) ◽  
pp. 132-135 ◽  
Author(s):  
Eric A Haan ◽  
James L Penfold ◽  
Robert I Richards ◽  
Susan W Serjeantson ◽  
A Kenneth Rollond ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Hydroxylase Deficiency ◽  
Female Fetus ◽  
21 Hydroxylase Deficiency ◽  
Intrauterine Treatment

DIFFICULTIES IN THE DIAGNOSIS OF THE ADRENOGENITAL SYNDROME IN INFANCY

PEDIATRICS ◽  
1972 ◽  
Vol 49 (2) ◽  
pp. 198-205
Author(s):  
C. H. Shackleton ◽  
F. L. Mitchell ◽  
J. W. Farquhar
Keyword(s):  
Hydroxylase Deficiency ◽  
Adrenogenital Syndrome ◽  
Steroid Excretion ◽  
21 Hydroxylase Deficiency ◽  
Hydroxy Steroid ◽  
Steroid Dehydrogenase

Pregnanetriol was not excreted by an infant (7 days old) who was later shown to have a defect in steroid 21-hydroxylase. However, the excretion of this compound increased during the following days (1.2 mg on the thirteenth day of life). A high excretion of 3β-hydroxy-Δ steroids was the most noticeable abnormality in steroid excretion noted on the seventh day of life (e.g., 3β, 16α-dihydroxy-5-pregnen-20-one, 15 mg; 3β, 21-dihydroxy-5-pregnen-20-one, 1.4 mg and 3β, 16α-dihydroxy-5-androsten-17-one, 7.4 mg). This high 3β-hydroxy-Δ steroid excretion results in difficulties in distinguishing a defect in 3β-hydroxy steroid dehydrogenase from a 21-hydroxylase deficiency. At the age of 14 months the principal steroids excreted were those predominant in other cases of 21-hydroxylase deficiency, viz. pregnanetriol and 5β-pregnane-3α, 17α, 20α-triol-11-one (11-oxo-pregnanetriol).

Pitfalls of Prenatal Diagnosis of 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia*

1985 ◽  
Vol 61 (1) ◽  
pp. 89-97 ◽  
Author(s):  
SONGYA PANG ◽  
MARILYN S. POLLACK ◽  
MAY LOO ◽  
ORVILLE GREEN ◽  
ROBERT NUSSBAUM ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency
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