A False Negative Case with 21-Hydroxylase Deficiency at Newborn Mass Screenning Program. Case Report and Review of the Mass Screening Program in Kagoshima Prefecture.

2000 ◽  
Vol 9 (1) ◽  
pp. 25-30
Author(s):  
Kazuko Hizukuri ◽  
Seigo Ono ◽  
Ryuuji Masuda ◽  
Michiyo Mizota ◽  
Kiyoko Otsubo ◽  
...  
Keyword(s):  
Case Report ◽  
Mass Screening ◽  
Screening Program ◽  
False Negative ◽  
Hydroxylase Deficiency ◽  
False Negative Case ◽  
Negative Case ◽  
Kagoshima Prefecture ◽  
21 Hydroxylase Deficiency

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 Rare combination of Turner syndrome and congenital adrenal hyperplasia with 21-hydroxylase deficiency: case report

2018 ◽  
Vol 64 (4) ◽  
pp. 432-436
Author(s):  
Ivana Ságová ◽  
Matej Stančík ◽  
Dušan Pávai ◽  
Daniela Kantárová ◽  
Anton Vaňuga ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Turner Syndrome ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Rare Combination ◽  
21 Hydroxylase Deficiency

scholarly journals 21-hydroxylase Deficiency Associated with Adrenal Tumor : Case Report of Two Brothers

1989 ◽  
Vol 65 (5) ◽  
pp. 525-536
Author(s):  
Yasushi SUNAGA ◽  
Mitsushige NISHIKAWA ◽  
Kiyoshi INABA ◽  
Noburo HIROZANE ◽  
Noboru INOUE ◽  
...  
Keyword(s):  
Case Report ◽  
Adrenal Tumor ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

scholarly journals GENDER REVERSAL AND BILATERAL GIANT ADRENAL MYELOLIPOMAS IN A 46,XX PATIENT WITH 21-HYDROXYLASE DEFICIENCY: CASE REPORT AND REVIEW OF THE LITERATURE

2017 ◽  
Vol 3 (3) ◽  
pp. e217-e224 ◽  
Author(s):  
Gregory P. Westcott ◽  
Abdollah Sadeghi-Nejad ◽  
Juan Munoz-Pena ◽  
Adam Blau ◽  
Martin Goodman ◽  
...  
Keyword(s):  
Case Report ◽  
Review Of The Literature ◽  
Hydroxylase Deficiency ◽  
Gender Reversal ◽  
21 Hydroxylase Deficiency
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