scholarly journals Nonclassic Steroid 21-Hydroxylase Deficiency due to a Homozygous V281L Mutation in CYP21A2 Detected by the Neonatal Mass-Screening Program in Japan

2007 ◽  
Vol 54 (6) ◽  
pp. 1021-1025 ◽  
Author(s):  
Takashi SHINAGAWA ◽  
Reiko HORIKAWA ◽  
Tsuyoshi ISOJIMA ◽  
Yasuhiro NAIKI ◽  
Toshiaki TANAKA ◽  
...  
Keyword(s):  
Mass Screening ◽  
Screening Program ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

A neonatal mass-screening for congenital adrenal hyperplasia in Japan

1984 ◽  
Vol 107 (4) ◽  
pp. 513-518 ◽  
Author(s):  
Kazuhiko Shimozawa ◽  
Sumitaka Saisho ◽  
Nobuchika Saito ◽  
Jun-ichi Yata ◽  
Yoshio Igarashi ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Mass Screening ◽  
Screening Program ◽  
Clinical Signs ◽  
Plasma Sodium ◽  
Adrenal Hyperplasia ◽  
Perinatal Complications ◽  
Hydroxylase Deficiency ◽  
Urine Metabolites ◽  
21 Hydroxylase Deficiency

Abstract. A pilot neonatal mass-screening for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) was performed in the western region of Shizuoka Prefecture, Japan, using a simplified radioimmunoassay method for 'Disc-17-hydroxyprogesterone (17-OHP)' determination. The results obtained during a 30-month period indicated that 3 infants out of the 34314 neonates examined were proved to have 21-OHD, and the incidence of homozygotes and heterozygotes were estimated to be 1:11438 and 1:54, respectively. At the time of recall, the concentrations of plasma 17-OHP and 21-deoxycortisol and their urine metabolites as well as plasma sodium levels were quite applicable to diagnosis, while the clinical signs that may be manifest in 21-OHD were of little value in this connection. Prematurity and perinatal complications of neonates tended to give false-positive results, being secondary to the function of the residual foetal adrenal cortex and non-specific stimulatory effects of various stresses. Despite several technical and practical problems to be solved, the present study demonstrated the importance and validity of a neonatal mass-screening program for CAH.

scholarly journals Molecular Basis of Nonclassical Steroid 21-Hydroxylase Deficiency Detected by Neonatal Mass Screening in Japan

1997 ◽  
Vol 82 (7) ◽  
pp. 2350-2356 ◽  
Author(s):  
Toshihiro Tajima ◽  
KENJI FUJIEDA Jun Nakae ◽  
Takio Toyoura ◽  
Kazuhiko Shimozawa ◽  
Satoshi Kusuda ◽  
...  
Keyword(s):  
Mass Screening ◽  
Molecular Basis ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

scholarly journals Mortality in Patients with Congenital 21-Hydroxylase Deficiency Diagnosed after the Introduction of a Newborn Screening Program in Japan

2003 ◽  
Vol 12 (1) ◽  
pp. 19-23 ◽  
Author(s):  
Eishin Ogawa ◽  
Kenji Fujieda ◽  
Katsuhiko Tachibana ◽  
Hiroaki Inomata ◽  
Eiichi Kinoshita ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Newborn Screening Program ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

scholarly journals Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant

2020 ◽  
Vol 8 ◽  
Author(s):  
Antonio Balsamo ◽  
Federico Baronio ◽  
Rita Ortolano ◽  
Soara Menabo ◽  
Lilia Baldazzi ◽  
...  
Keyword(s):  
Screening Program ◽  
Young Infant ◽  
Regulatory Protein ◽  
Dried Blood Spots ◽  
Hydroxylase Deficiency ◽  
Chain Cleavage ◽  
Precise Diagnosis ◽  
Steroid Profiles ◽  
Steroidogenic Acute Regulatory ◽  
21 Hydroxylase Deficiency

Congenital adrenal hyperplasia includes autosomal recessive conditions that affect the adrenal cortex steroidogenic enzymes (cholesterol side-chain cleavage enzyme; 3β-hydroxysteroid dehydrogenase; 17α-hydroxylase/17,20 lyase; P450 oxidoreductase; 21-hydroxylase; and 11β-hydroxylase) and proteins (steroidogenic acute regulatory protein). These are located within the three major pathways of the steroidogenic apparatus involved in the production of mineralocorticoids, glucocorticoids, and androgens. Many countries have introduced newborn screening program (NSP) based on 17-OH-progesterone (17-OHP) immunoassays on dried blood spots, which enable faster diagnosis and treatment of the most severe forms of 21-hydroxylase deficiency (21-OHD). However, in several others, the use of this diagnostic tool has not yet been implemented and clinical diagnosis remains challenging, especially for males. Furthermore, less severe classic forms of 21-OHD and other rarer types of CAHs are not identified by NSP. The aim of this mini review is to highlight both the main clinical characteristics and therapeutic options of these conditions, which may be useful for a differential diagnosis in the neonatal period, while contributing to the biochemical evolution taking place in the steroidogenic field. Currently, chromatographic techniques coupled with tandem mass spectrometry are gaining attention due to an increase in the reliability of the test results of NPS for detecting 21-OHD. Furthermore, the possibility of identifying CAH patients that are not affected by 21-OHD but presenting elevated levels of 17-OHP by NSP and the opportunity to include the recently investigated 11-oxygenated androgens in the steroid profiles are promising tools for a more precise diagnosis and monitoring of some of these conditions.

scholarly journals The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients

2020 ◽  
Vol 6 (3) ◽  
pp. 68 ◽  
Author(s):  
Svetlana Lajic ◽  
Leif Karlsson ◽  
Rolf H. Zetterström ◽  
Henrik Falhammar ◽  
Anna Nordenström
Keyword(s):  
Screening Program ◽  
Hydroxylase Deficiency ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Initial Care ◽  
Swedish Experience ◽  
21 Hydroxylase Deficiency ◽  
Source Of Information

Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency is now performed in an increasing number of countries all over the world. The main goal of the screening is to achieve early diagnosis and treatment in order to prevent neonatal salt-crisis and death. The screening laboratory can also play an important role in increasing the general awareness of the disease and act as the source of information and education for clinicians to facilitate improved initial care, ensure prompt and correct glucocorticoid dosing to optimize the long-term outcome for the patients. A National CAH Registry and CYP21A2 genotyping provide valuable information both for evaluating the screening program and the clinical outcome. The Swedish experience is described.

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