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

Eishin Ogawa; Kenji Fujieda; Katsuhiko Tachibana; Hiroaki Inomata; Eiichi Kinoshita; Satoshi Kusuda; Yoshikazu Nishi; Taisuke Okada; Sumitaka Saisho; Toshihiro Tajima; Toshiaki Tanaka

doi:10.1297/cpe.12.19

Originals

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

Eishin Ogawa, Kenji Fujieda, Katsuhiko Tachibana, Hiroaki Inomata, Eiichi Kinoshita, Satoshi Kusuda, Yoshikazu Nishi, Taisuke Okada, Sumitaka Saisho, Toshihiro Tajima, Toshiaki Tanaka

Author information

Eishin Ogawa
The Committee for the Newborn Screening of The Japanese Society for Pediatric Endocrinology
Kenji Fujieda
The Committee for the Newborn Screening of The Japanese Society for Pediatric Endocrinology
Katsuhiko Tachibana
The Committee for the Newborn Screening of The Japanese Society for Pediatric Endocrinology
Hiroaki Inomata
The Committee for the Newborn Screening of The Japanese Society for Pediatric Endocrinology
Eiichi Kinoshita
The Committee for the Newborn Screening of The Japanese Society for Pediatric Endocrinology
Satoshi Kusuda
The Committee for the Newborn Screening of The Japanese Society for Pediatric Endocrinology
Yoshikazu Nishi
The Committee for the Newborn Screening of The Japanese Society for Pediatric Endocrinology
Taisuke Okada
The Committee for the Newborn Screening of The Japanese Society for Pediatric Endocrinology
Sumitaka Saisho
The Committee for the Newborn Screening of The Japanese Society for Pediatric Endocrinology
Toshihiro Tajima
The Committee for the Newborn Screening of The Japanese Society for Pediatric Endocrinology
Toshiaki Tanaka
The Committee for the Newborn Screening of The Japanese Society for Pediatric Endocrinology

Keywords: congenital adrenal hyperplasia, 21-hydroxylase deficiency, newborn screening, acute adrenal crisis, mortality

JOURNAL FREE ACCESS

2003 Volume 12 Issue 1 Pages 19-23

DOI https://doi.org/10.1297/cpe.12.19

Details

Abstract

In order to estimate the mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) diagnosed after the introduction of a newborn screening program in Japan, a questionnaire was sent to all members of the Japanese Society for Pediatric Endocrinology. Three hundred and eighty two out of 960 questionnaires were available for the analysis. Twelve deaths were reported. Two died in an early neonatal period, and 10 patients were on maintenance therapy. This suggests that mortality is estimated to be one in 25-80 21OHD patients on maintenance therapy in childhood. It was speculated that cortisol deficiency somewhat contributed to their deaths. Of note, 4 died during a gastrointestinal infection. The need to increase hydrocortisone doses, and the importance of parenteral hydrocortisone administration during stress or illnesses should be repeatedly informed to carers and their physicians.

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