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Muriel Houang, Thao Nguyen-Khoa, Thibaut Eguether, Bettina Ribault, Séverine Brabant, Michel Polak, Irène Netchine, and Antonin Lamazière

Introduction The newborn screening program (NBS) for congenital adrenal hyperplasia (CAH) presents a number of issues in the context of the prevention of life-threatening salt wasting crises and subsequent collapse. This neonatal period is

Open access

Chunyun Fu, Shiyu Luo, Yingfeng Li, Qifei Li, Xuehua Hu, Mengting Li, Yue Zhang, Jiasun Su, Xuyun Hu, Yun Chen, Jin Wang, Bobo Xie, Jingsi Luo, Xin Fan, Shaoke Chen, and Yiping Shen

Introduction Congenital hypothyroidism (CH) is one of the most common causes of intellectual disability and growth retardation with worldwide incidence ranging from 1:2000 to 1:4000 newborns ( 1 , 2 , 3 ). Newborn screening allows for early

Open access

Stefan Riedl, Friedrich-Wilhelm Röhl, Walter Bonfig, Jürgen Brämswig, Annette Richter-Unruh, Susanne Fricke-Otto, Markus Bettendorf, Felix Riepe, Gernot Kriegshäuser, Eckhard Schönau, Gertrud Even, Berthold Hauffa, Helmuth-Günther Dörr, Reinhard W Holl, Klaus Mohnike, and the AQUAPE CAH Study Group

birth due to ambiguous genitalia, some affected boys were overlooked leading to unexplained death due to presumptive SW crises in several cases ( 13 ). For this reason, nationwide 17-hydroxyprogesterone (17-OHP) newborn screening was introduced in many

Open access

Nikolina Zdraveska, Maja Zdravkovska, Violeta Anastasovska, Elena Sukarova-Angelovska, and Mirjana Kocova

etiology of CH and determine the prevalence of transient hypothyroidism among CH children diagnosed in the newborn period after the neonatal screening. Neonatal screening for CH in the Republic of Macedonia was introduced in 2002 as a pilot project and

Open access

Anna Liori, Damaskini Polychroni, Georgios K Markantes, Maria Stamou, Sarantis Livadas, George Mastorakos, and Neoklis Georgopoulos

newborns) has never been evaluated. To answer this question with the goal to identify the best practices to support refugee women undergoing pregnancy and delivery under such difficult conditions, we conducted a study in pregnant women who were residents of

Open access

Luca Persani, Biagio Cangiano, and Marco Bonomi

achieved by the single measurement of TSH. In this respect, the missed diagnosis of CeH represents the most important false-negative result of the ‘reflex TSH’ strategy that is frequently applied for the screening of thyroid function either in newborns or

Open access

Sandra R Dahl, Ingrid Nermoen, Ingeborg Brønstad, Eystein S Husebye, Kristian Løvås, and Per M Thorsby

puberty with accelerated bone age will ensue. The prevalence of 21OHD shows large ethnic and geographic differences; the worldwide incidence is approximately 1/15,000 based on newborn screening ( 3 ). The aim of the medical treatment is to provide

Open access

Kinnaree Sorapipatcharoen, Thipwimol Tim-Aroon, Pat Mahachoklertwattana, Wasun Chantratita, Nareenart Iemwimangsa, Insee Sensorn, Bhakbhoom Panthan, Poramate Jiaranai, Saisuda Noojarern, Patcharin Khlairit, Sarunyu Pongratanakul, Chittiwat Suprasongsin, Manassawee Korwutthikulrangsri, Chutintorn Sriphrapradang, and Preamrudee Poomthavorn

either confirmatory test for positive newborn screening (NBS) or thyroid function tests for other signs and symptoms suggesting CH. Patients with transient CH secondary to maternal conditions, sick euthyroid syndrome and obvious syndromic features were

Open access

E Kohva, P J Miettinen, S Taskinen, M Hero, A Tarkkanen, and T Raivio

expectedly the most common cause of 46,XX DSD. After the implementation of the newborn screening in Finland in 2015, six new CAH patients have been diagnosed by it. We anticipate that screening leads to better diagnostic yield and conceivably better care for

Open access

Heike Hoyer-Kuhn, Angela Huebner, Anette Richter-Unruh, Markus Bettendorf, Tilman Rohrer, Klaus Kapelari, Stefan Riedl, Klaus Mohnike, Helmuth-Günther Dörr, Friedrich-Wilhelm Roehl, Katharina Fink, Reinhard W Holl, and Joachim Woelfle

(introduction of neonatal screening in most regions)) were compared to assess the influence of the nationwide neonatal CAH screening and ensuing treatment recommendations. Patients and methods The AQUAPE (Arbeitsgemeinschaft für Qualitätssicherung in der