Congenital adrenal hyperplasia and early newborn screening: 17α-hydroxyprogesterone (17α-OHP) during the first days of life

1998 ◽  
Vol 5 (1) ◽  
pp. 24-26 ◽  
Author(s):  
L Gruñeiro de Papendieck ◽  
L Prieto ◽  
A Chiesa ◽  
S Bengolea ◽  
C Bergadá
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Cord Blood ◽  
Adrenal Glands ◽  
Adrenal Hyperplasia ◽  
Sample Collection ◽  
Term Neonates ◽  
Upper Limits ◽  
Definition Of ◽  
Very High ◽  
Apparently Healthy

Objective Definition of upper limits for 17α-hydroxyprogesterone (17α-OHP) is important as its measurement is used in screening for congenital adrenal hyperplasia. This study aimed at investigating the cut off concentrations in relation to the day of sample collection. Methods 17α-OHP concentration was determined in dried filter paper blood spots taken from cord blood and by heel pricking up to the sixth day of life. A sensitive fluoroimmunoassay (DELFIA) method was used. Samples from 1091 apparently healthy full term neonates were tested. Samples were separated according to the age of sampling. Results The 17α-OHP (nmol/l blood) (median and 97.5th centile) concentrations according to the age of sampling were: cord blood (n=126) 123.7, 265.6; first day 0–6 hours (n=30) 49.4, 80.3; 6–12 hours (n=57) 42.7, 79.8; 12–18 hours (n=58) 38.1, 62.7; 18–24 hours (n=67) 28.8, 49.7; second day 24–36 hours (n=51) 23.6, 43.3; 36–48 hours (n=63) 19.9, 35.4; third day (n=200) 10.6, 23.5; fourth day (n=197) 8.8, 20.8; fifth day (n=76) 6.4, 18.3; sixth day (n=166) 6.6, 19.4. Conclusion Cord 17α-OHP concentrations were very high as previously described, probably owing to steroid production by fetal adrenal glands. Therefore, cord blood is not useful for screening purposes. Thereafter there is a gradual decline in 17α-OHP median concentrations. A cut off value of 30 nmol/l blood was useful in samples obtained after 48 hours of life. However, cut off values before 48 hours should be adjusted according to the sampling time.

scholarly journals Failure of Cortisone Acetate Treatment in Congenital Adrenal Hyperplasia because of Defective 11β-Hydroxysteroid Dehydrogenase Reductase Activity*

1999 ◽  
Vol 84 (4) ◽  
pp. 1210-1213 ◽  
Author(s):  
Anna Nordenström ◽  
Claude Marcus ◽  
Magnus Axelson ◽  
Anna Wedell ◽  
E. Martin Ritzén
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Reductase Activity ◽  
Urinary Metabolites ◽  
Hydroxysteroid Dehydrogenase ◽  
Cortisone Acetate ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Genetic Lesion ◽  
21 Hydroxylase Deficiency ◽  
Very High

Congenital adrenal hyperplasia in children is often treated with cortisone acetate and fludrocortisone. It is known that certain patients with congenital adrenal hyperplasia require very high substitution doses of cortisone acetate, and a few patients do not respond to this treatment at all. A patient with 21-hydroxylase deficiency, for whom elevated pregnanetriol (P3) levels in urine were not suppressed during treatment with cortisone acetate (65 mg/m2·day), was examined. The activation of cortisone to cortisol was assessed by measuring urinary metabolites of cortisone and cortisol. The patient’s inability to respond to treatment with cortisone acetate was found to be caused by a low conversion of cortisone to cortisol, assumed to be secondary to low 11β-hydroxysteroid dehydrogenase activity (11-oxoreductase deficiency). All exons and exon/intron junctions of the 11β-hydroxysteroid dehydrogenase type1 gene (HSD11L) were sequenced without finding any mutations, but a genetic lesion in the promoter or other regulatory regions cannot be ruled out. The deficient 11-oxoreductase activity seems to have been congenital, in this case, but can possibly be attributable to a down-regulation of the enzyme activity. The results support the use of hydrocortisone, rather than cortisone acetate, for substitution therapy in adrenal insufficiency.

scholarly journals Neonatal 17-hydroxyprogesterone levels adjusted according to age at sample collection and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening

2017 ◽  
Vol 86 (4) ◽  
pp. 480-487 ◽  
Author(s):  
Giselle Y. Hayashi ◽  
Daniel F. Carvalho ◽  
Mirela C. de Miranda ◽  
Cláudia Faure ◽  
Carla Vallejos ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Adrenal Hyperplasia ◽  
Sample Collection ◽  
17 Hydroxyprogesterone

scholarly journals Hormonal and metabolic features of the androgenic phenotypes of polycystic ovary syndrome and non-classic adrenal hyperplasia with various polymorphic variants in the CYP17A1 gene

2020 ◽  
Vol 69 (1) ◽  
pp. 27-36
Author(s):  
Evgeny K. Komarov ◽  
Elena A. Mikhnina ◽  
Natalia S. Osinovskaya
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Gene Polymorphism ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Glands ◽  
Polycystic Ovary ◽  
Serum Levels ◽  
Adrenal Hyperplasia ◽  
Ovary Syndrome ◽  
Classic Congenital Adrenal Hyperplasia ◽  
Polymorphic Variants

The CYP17A1 gene encodes the most important stages of sex steroid biosynthesis by the adrenal glands and ovaries. The objective of this study was to evaluate the hormonal and metabolic status of patients with hyperandrogenia and the CYP17A1 rs743572 gene polymorphism. We examined 106 women with polycystic ovary syndrome androgen phenotypes A, B, and C and 28 women with latent non-classic congenital adrenal hyperplasia. It was found that there were no significant differences in the frequency of CYP17A1 alleles and genotypes between the three phenotype groups of patients with polycystic ovary syndrome. Body mass index and insulin resistance after glucose loading were comparable in individuals with these phenotypes of polycystic ovary syndrome. The CYP17A1 gene polymorphism in patients with different polycystic ovary syndrome phenotypes and in individuals with latent non-classic congenital adrenal hyperplasia did not associate with the concentration of estradiol and androgens in the blood. Neither did LH / FSH ratio differ between groups with different allelic variants of the CYP17A1 gene. These results show that patients with different polycystic ovary syndrome phenotypes do not require differentiated therapy. Serum levels of DHEA-S and cortisol were elevated in 38.7% of women with polycystic ovary syndrome without non-classic congenital adrenal hyperplasia, which indicates an adrenal cause of hyperandrogenia. We suppose that in the diagnosis of polycystic ovary syndrome, it is necessary to define not only phenotypes, but also a suprarenal source of androgens. The therapy of these patients may require application of corticosteroids besides the usual methods in planning of pregnancy.

926: Dorsal Nerve Preservation in Modified Reduction Clitoroplasty in Congenital Adrenal Hyperplasia (CAH)

2007 ◽  
Vol 177 (4S) ◽  
pp. 307-307
Author(s):  
Ariella Hochsztein ◽  
Rebecca Baergen ◽  
Emily Loyd ◽  
Jie Chen ◽  
Diane Felsen ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Nerve Preservation ◽  
Dorsal Nerve
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