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Keywords: Newborn screening
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Journal Articles

Rarity of Congenital Adrenal Hyperplasia in Children Born Very Preterm: Possible Mechanism and Implication for Newborn Screening

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Subject Area:
Endocrinology , Women's and Children's Health
Asmahane Ladjouze, Yasmina Ouarezki, Adel Djermane, Sakina Kherra, Meriem Bensalah, Kahina Mohammedi, Dalila Douiri, Nourredine Boutaghane, Zair Bouzerar, Guy Van Vliet
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2025)
https://doi.org/10.1159/000543430
Published Online: 06 January 2025
... of the disease was confirmed in 93 boys and 139 girls. Conclusion: We speculate that the combination of a high production of 17-hydroxyprogesterone with a low production of cortisol by the fetus with CAH accounts for the rarity of very preterm birth in this population. We suggest that newborn screening for CAH...
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Journal Articles

International Newborn Screening Practices for the Early Detection of Congenital Adrenal Hyperplasia

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Subject Area:
Endocrinology , Women's and Children's Health
Tracey A. Conlon, Colin P. Hawkes, Jennifer J. Brady, J. Gerard Loeber, Nuala Murphy
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2024) 97 (2): 113–125.
https://doi.org/10.1159/000530754
Published Online: 15 May 2023
...Tracey A. Conlon; Colin P. Hawkes; Jennifer J. Brady; J. Gerard Loeber; Nuala Murphy Introduction: Newborn screening (NBS) programmes vary internationally in their approach to screening. Guidelines for congenital adrenal hyperplasia (CAH) screening recommend the use of two-tier testing...
View article titled, International Newborn Screening Practices for the Early Detection of Congenital Adrenal Hyperplasia
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Journal Articles

Twenty Years of Neonatal Screening for Congenital Adrenal Hyperplasia in North-Eastern Italy: Role of Liquid Chromatography-Tandem Mass Spectrometry as a Second-Tier Test

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Subject Area:
Endocrinology , Women's and Children's Health
Paolo Cavarzere, Marta Camilot, Laura Palma, Silvana Lauriola, Rossella Gaudino, Monica Vincenzi, Franco Antoniazzi, Francesca Teofoli, Giorgio Piacentini
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2022) 95 (3): 255–263.
https://doi.org/10.1159/000524170
Published Online: 29 March 2022
...Paolo Cavarzere; Marta Camilot; Laura Palma; Silvana Lauriola; Rossella Gaudino; Monica Vincenzi; Franco Antoniazzi; Francesca Teofoli; Giorgio Piacentini Background: Newborn screening for congenital adrenal hyperplasia (CAH) based on 17-hydroxyprogesterone (17-OHP) concentration in dried blood...
View article titled, Twenty Years of Neonatal Screening for Congenital Adrenal Hyperplasia in North-Eastern Italy: Role of Liquid Chromatography-Tandem Mass Spectrometry as a Second-Tier Test
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Journal Articles

Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience

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Subject Area:
Endocrinology , Women's and Children's Health
Marie Lind-Holst, Marie Bækvad-Hansen, Agnethe Berglund, Arieh S. Cohen, Lars Melgaard, Kristin Skogstrand, Morten Duno, Katharina M. Main, David Michael Hougaard, Claus Højbjerg Gravholt, Dorte Hansen
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2022) 95 (1): 35–42.
https://doi.org/10.1159/000522230
Published Online: 03 February 2022
... deficiency Congenital adrenal hyperplasia screening Genetic diseases Liquid chromatography with tandem mass spectrometry Newborn screening Screening for congenital adrenal hyperplasia © 2022 S. Karger AG, Basel 2022 Copyright / Drug Dosage / Disclaimer Copyright: All rights reserved. No part...
View article titled, Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience
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Journal Articles

Outcome of Newborn Screening for Congenital Adrenal Hyperplasia at Two Time Points

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Subject Area:
Endocrinology , Women's and Children's Health
Nazaneen Eshragh, Luong Van Doan, Kara J. Connelly, Sara Denniston, Sharon Willis, Stephen H. LaFranchi
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2020) 93 (2): 128–136.
https://doi.org/10.1159/000508075
Published Online: 31 August 2020
... objectives were to determine the accuracy of screening, severity of CAH, and biochemical and clinical outcomes of cases detected by our program which collects specimens at 2 time periods following birth. Methods: We reviewed all CAH cases detected in the Northwest Regional Newborn Screening Program from 2003...
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Journal Articles

Levothyroxine Dosage as Predictor of Permanent and Transient Congenital Hypothyroidism: A Multicenter Retrospective Study in Japan

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Subject Area:
Endocrinology , Women's and Children's Health
Tomoyo Itonaga, Shinji Higuchi, Kazuhiro Shimura, Keisuke Nagasaki, Mari Satoh, Noriyuki Takubo, Ikuko Takahashi, Hirotake Sawada, Yukihiro Hasegawa
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2019) 92 (1): 45–51.
https://doi.org/10.1159/000502418
Published Online: 25 September 2019
..., semilobar deficiency, or athyrosis, and those with an eutopic thyroid gland, respectively. The medical records of all 99 patients were reviewed for the following data: maternal thyroid disease, gestational age, results of their newborn screening test for thyroid function, imaging findings, genetic...
View article titled, Levothyroxine Dosage as Predictor of Permanent and Transient Congenital Hypothyroidism: A Multicenter Retrospective Study in Japan
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Journal Articles

Detecting Congenital Central Hypothyroidism by Newborn Screening: Difficulty in Distinguishing from Congenital Thyroxine-Binding Globulin Deficiency

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Subject Area:
Endocrinology , Women's and Children's Health
Kara J. Connelly, Melinda J. Pierce, Cheryl Hanna, Stephen H. LaFranchi
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2017) 88 (5): 331–338.
https://doi.org/10.1159/000479367
Published Online: 14 September 2017
...Kara J. Connelly; Melinda J. Pierce; Cheryl Hanna; Stephen H. LaFranchi Background/Aims: Congenital central hypothyroidism (CH-C) can be detected on newborn screening (NBS) by programs using thyroxine (T4)-reflex thyroid-stimulating hormone (TSH) test approach. CH-C must be distinguished from T4...
View article titled, Detecting Congenital Central Hypothyroidism by Newborn Screening: Difficulty in Distinguishing from Congenital Thyroxine-Binding Globulin Deficiency
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Journal Articles

Transient versus Permanent Congenital Hypothyroidism after the Age of 3 Years in Infants Detected on the First versus Second Newborn Screening Test in Oregon, USA

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Subject Area:
Endocrinology , Women's and Children's Health
George A. Ford, Sara Denniston, David Sesser, Michael R. Skeels, Stephen H. LaFranchi
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2016) 86 (3): 169–177.
https://doi.org/10.1159/000448658
Published Online: 06 September 2016
...George A. Ford; Sara Denniston; David Sesser; Michael R. Skeels; Stephen H. LaFranchi Background/Aims: The newborn screening (NBS) program in Oregon, USA, collects two routine specimens in all infants. The aim of our study was to determine the incidence of permanent versus transient congenital...
View article titled, Transient versus Permanent Congenital Hypothyroidism after the Age of 3 Years in Infants Detected on the First versus Second Newborn Screening Test in Oregon, USA
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Journal Articles

Neonatal Screening: Identification of Children with 11β-Hydroxylase Deficiency by Second-Tier Testing

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Subject Area:
Endocrinology , Women's and Children's Health
Nils Janzen, Felix G. Riepe, Michael Peter, Stefanie Sander, Ulrike Steuerwald, Eckhard Korsch, Friedrich Krull, Hermann L. Müller, Sabine Heger, Christoph Brack, Johannes Sander
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2012) 77 (3): 195–199.
https://doi.org/10.1159/000337974
Published Online: 13 April 2012
...Nils Janzen; Felix G. Riepe; Michael Peter; Stefanie Sander; Ulrike Steuerwald; Eckhard Korsch; Friedrich Krull; Hermann L. Müller; Sabine Heger; Christoph Brack; Johannes Sander Background: 21-Hydroxylase deficiency (21-OHD) is the target disease of newborn screening for congenital adrenal...
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Journal Articles

Growth Patterns in the First Three Years of Life in Children with Classical Congenital Adrenal Hyperplasia Diagnosed by Newborn Screening and Treated with Low Doses of Hydrocortisone

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Subject Area:
Endocrinology , Women's and Children's Health
W. Bonfig, H. Schmidt, H.P. Schwarz
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2011) 75 (1): 32–37.
https://doi.org/10.1159/000316973
Published Online: 12 August 2010
...W. Bonfig; H. Schmidt; H.P. Schwarz Background: Linear growth is the best clinical parameter for monitoring metabolic control in classical congenital adrenal hyperplasia (CAH). Objective: To analyze growth patterns in children with CAH diagnosed by newborn screening and treated with relatively low...
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Journal Articles

A Case of 11β-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MS

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Subject Area:
Endocrinology , Women's and Children's Health
M. Peter, N. Janzen, S. Sander, E. Korsch, F.G. Riepe, J. Sander
Journal: Hormone Research in Paediatrics
Hormone Research (2008) 69 (4): 253–256.
https://doi.org/10.1159/000113027
Published Online: 21 January 2008
...M. Peter; N. Janzen; S. Sander; E. Korsch; F.G. Riepe; J. Sander Background/Aim: 21-Hydroxylase deficiency congenital adrenal hyperplasia (CAH) is one of the target diseases in many newborn screening programs. 11β-Hydroxylase defiency is less frequent and does not cause salt-losing crisis. Thus...
View article titled, A Case of 11β-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MS
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