Prenatal Diagnosis of 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia by Simultaneous Radioimmunoassay of 21-Deoxycortisol and 17-Hydroxyprogesterone in Amniotic Fluid

1988 ◽  
Vol 66 (3) ◽  
pp. 534-537 ◽  
Author(s):  
BERNARD GUEUX ◽  
JEAN FIET ◽  
PHILIPPE COUILLIN ◽  
MARIE-CHARLES RAUX-DEMAY ◽  
ETIENNE MORNET ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
17 Hydroxyprogesterone ◽  
21 Hydroxylase Deficiency

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

PEDIATRICS ◽  
1977 ◽  
Vol 59 (5) ◽  
pp. 768-770 ◽  
Author(s):  
Aubrey Milunsky ◽  
Dan Tulchinsky
Keyword(s):  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
Congenital Adrenal Hyperplasia ◽  
Antenatal Diagnosis ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

There is a paucity of data concerning the feasibility of the early antenatal diagnosis of congenital adrenal hyperplasia (CAH). Jeffcoate et al.1 reported elevated amniotic fluid 17-keto-steroid and pregnanetriol levels in a patient at term carrying a fetus with CAH. Nichols2 and Nichols and Gibson3 reported high amniotic fluid pregnanetriol levels in two other patients in term pregnancies. In contrast, Merkatz et al.4 found normal amniotic fluid 17-ketosteroid and pregna-netriol levels in two other patients carrying fetuses with CAH who had repeated amniocenteses at 26, 30, 35, 38, and 33 and 37 weeks gestation. New5 also noted that in his experience, 17-ketosteroid or pregnanetriol levels in amniotic fluid were not useful for the antenatal diagnosis of CAH.

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

Development of a Direct Fluoroimmunoassay for Serum Levels of 17-Hydroxyprogesterone

1988 ◽  
Vol 25 (1) ◽  
pp. 35-41 ◽  
Author(s):  
B A El-Gamal ◽  
S A Eremin ◽  
D S Smith ◽  
J Landon
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Sodium Salicylate ◽  
Serum Levels ◽  
Adrenal Hyperplasia ◽  
Initial Sample ◽  
Hydroxylase Deficiency ◽  
Sample Extraction ◽  
Analytical Recovery ◽  
17 Hydroxyprogesterone ◽  
21 Hydroxylase Deficiency

A direct, rapid and highly specific fluoroimmunoassay for determining serum levels of 17-hydroxyprogesterone has been developed. It is based on the use of a sheep antiserum covalently coupled to magnetisable particles and fluorescein-labelled steroid. Sodium salicylate is employed to eliminate interference from endogenous binding proteins in serum. The sensitivity of 0·5 nmol/L is adequate for clinical purposes. Analytical recovery, linearity and precision are satisfactory and the results obtained correlate closely with those of an established radioimmunoassay using 3H-labelled steroid and the same antiserum after initial sample extraction and chromatography. The values found for serum from normal adult subjects ranged from 1·0 to 12·6 nmol/L while those from treated and untreated patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency were 1·5 to 190 and 28·0 to 655 nmol/L, respectively.

17-HYDROXYPROGESTERONE IN THE COSYNTROPIN TEST: RESULTS IN NORMAL AND HIRSUTE WOMEN AND IN MILD CONGENITAL ADRENAL HYPERPLASIA

1979 ◽  
Vol 90 (3) ◽  
pp. 481-489 ◽  
Author(s):  
M. Gourmelen ◽  
M. T. Pham-Huu-Trung ◽  
M. G. Bredon ◽  
F. Girard
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Acth Stimulation ◽  
Hydroxylase Deficiency ◽  
Individual Values ◽  
Minimum Concentration ◽  
The Mean ◽  
17 Hydroxyprogesterone ◽  
The Individual ◽  
21 Hydroxylase Deficiency

ABSTRACT The variations in plasma cortisol, testosterone and 17-hydroxyprogesterone (17-OHP) induced by an im injection of 0.25 mg cosyntrophin were studied in three groups of subjects: 16 healthy women, 16 hirsute women (HW) and 10 mild cases of congenital adrenal hyperplasia (CAH). The basal values of cortisol and testosterone were comparable between the three groups. In the patients with mild CAH, the mean 17-OHP concentration was increased: 483.9 ng/100 ml (113-1200 ng), but it should be noted that the individual values could overlap with the normal concentrations found in the controls and the HW during the luteal phase of the cycle. One hour after the injection of cosyntropin, a massive response of 17-OHP was observed in the mild cases of CAH, the mean basal concentration was multiplied by ten: 4843 ng/100 ml. The minimum concentration reached was 1740 ng/100 ml which is still 3-fold the highest level seen either in normal women (400 ng/ml) or in hirsute women (550 ng/100 ml). Determination of 17-OHP following a short-term ACTH stimulation, therefore provides evidence of partial 21-hydroxylase deficiency.

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