A pilot study for neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase and 11-β-hydroxylase deficiency in Campania region

1990 ◽  
Vol 13 (3) ◽  
pp. 221-225 ◽  
Author(s):  
R. Valentino ◽  
A. P. Tommaselli ◽  
R. Rossi ◽  
G. Lombardi ◽  
S. Varrone
Keyword(s):  
Pilot Study ◽  
Congenital Adrenal Hyperplasia ◽  
Neonatal Screening ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Campania Region

Neonatal screening for congenital adrenal hyperplasia: a pilot study in France

1986 ◽  
Vol 9 (S1) ◽  
pp. 147-151 ◽  
Author(s):  
J. L. Dhondt ◽  
C. Dorche ◽  
J. P. Farriaux ◽  
C. Courte
Keyword(s):  
Pilot Study ◽  
Congenital Adrenal Hyperplasia ◽  
Neonatal Screening ◽  
Adrenal Hyperplasia

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

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.

scholarly journals Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia

2009 ◽  
Vol 161 (2) ◽  
pp. 285-292 ◽  
Author(s):  
Paolo Cavarzere ◽  
Dinane Samara-Boustani ◽  
Isabelle Flechtner ◽  
Michèle Dechaux ◽  
Caroline Elie ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
False Positive ◽  
Neonatal Screening ◽  
False Positive Rate ◽  
Clinical Signs ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Hydroxylase Gene ◽  
21 Hydroxylase Deficiency ◽  
L 14

ObjectiveNeonatal screening for congenital adrenal hyperplasia (CAH) is characterized by a high false-positive rate, mainly among preterm and low birth weight infants. The aims of this study were to describe a subgroup of infants with transient serum hyper-17-hydroxyprogesteronemia (hyper-17-OHPemia) and to compare them with false positive and affected by 21-hydroxylase deficiency newborns.MethodsWe retrospectively analyzed the clinical data of all newborns positive at CAH neonatal screening, who were referred to our hospital to confirm the diagnosis from 2002 to 2006. They were submitted to clinical investigations and blood tests to evaluate 17-hydroxyprogesterone (17-OHP), renin, and electrolyte levels. CAH-unaffected newborns with increased serum 17-OHP were submitted to strict follow-up monitoring, which included an ACTH-stimulating test and genetic analysis of the 21-hydroxylase gene, until serum 17-OHP decreased.ResultsThirty-seven newborns with gestational ages ranging from 33 to 40 weeks were studied. Eight infants (three male and five female) were affected by CAH (serum 17-OHP: 277.5 (210–921) nmol/l), 14 (ten male and four female) were false positives (17-OHP: 3.75 (0.3–8.4) nmol/l), and 15 (ten male and five female) showed a serum hyper-17-OHPemia (17-OHP: 15.9 (9.9–33) nmol/l). No mutations of the 21-hydroxylase gene were found in infants with hyper-17-OHPemia and their serum 17-OHP levels were normalized by the third month of life.ConclusionWe identified a population of infants with transient serum hyper-17-OHPemia, and no clinical signs of disease or 21-hydroxylase gene mutations. No further investigations are necessary after birth in these newborns if 17-OHP levels decrease, other confirmatory tests such as ACTH-stimulation test or genotyping analysis are necessary only if symptoms appear.

scholarly journals Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants

2020 ◽  
Vol 12 (3) ◽  
pp. 287-294 ◽  
Author(s):  
Tülay Güran ◽  
Başak Tezel ◽  
Meltem Çakır ◽  
Ayşehan Akıncı ◽  
Zerrin Orbak ◽  
...  
Keyword(s):  
Pilot Study ◽  
Congenital Adrenal Hyperplasia ◽  
Neonatal Screening ◽  
Adrenal Hyperplasia
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