Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children

Endocrine Journal
Kenichi KashimadaYukihiro Hasegawa

Abstract

Non-classical 21-hydroxylase deficiency (NC21-OHD) is a mild form of 21-hydroxylase deficiency lacking apparent symptoms of androgen excess at birth. Most NC21-OHD cases are diagnosed after the onset of puberty, while a substantial number of patients are not diagnosed during childhood. Previous studies have reported ethnic differences in the prevalence of NC21-OHD. To date, the clinical features of NC21-OHD in Japanese children have not been systemically reported. Thus, we performed 3 independent analyses: retrospective analyses of newborn screening in 2 major Japanese cities (Sapporo and Niigata) and a national surveillance collecting clinical information from pediatric endocrinologists throughout the country. During the last 10 years, one case of NC21-OHD was diagnosed by newborn screening in each city, resulting in incidences of 2.0 (95% confidence interval = 0.0-5.9) and 2.1 (0.0-6.2) per 1,000,000 in Sapporo and Niigata, respectively. We collected information from 85% of the 135 Councilors of Japanese Society of Pediatric Endocrinology. Fifteen NC21-OHD patients were diagnosed during childhood, resulting in the estimated prevalence of 0.58 (0.28-1.1) per 1,000,000. Eleven patients were discovered by newborn screening, 7 pa...Continue Reading

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Citations

May 24, 2016·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Yuhei KoyamaTomonobu Hasegawa
Jul 5, 2017·Journal of Pediatric Endocrinology & Metabolism : JPEM·Şenay Savaş-ErdeveZehra Aycan
Nov 26, 2015·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·UNKNOWN Mass Screening CommitteeToshihiro Tajima
Jul 3, 2021·International Journal of Neonatal Screening·Atsumi Tsuji-Hosokawa, Kenichi Kashimada
Jul 22, 2021·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Shinsuke OnumaKeiichi Ozono

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