Genetic Analysis of Two Japanese Patients with Non-classical 21-Hydroxylase Deficiency

Rui Imamine; Hiroshi Arima; Miho Kusakabe; Hiroshi Umeda; Ikuko Sato; Keiko Homma; Takeshi Usui; Yutaka Oiso

doi:10.2169/internalmedicine.48.1894

CASE REPORTS

Genetic Analysis of Two Japanese Patients with Non-classical 21-Hydroxylase Deficiency

Rui Imamine, Hiroshi Arima, Miho Kusakabe, Hiroshi Umeda, Ikuko Sato, Keiko Homma, Takeshi Usui, Yutaka Oiso

Author information

Rui Imamine
Department of Endocrinology and Diabetes, Field of Internal Medicine, Nagoya University Graduate School of Medicine
Hiroshi Arima
Department of Endocrinology and Diabetes, Field of Internal Medicine, Nagoya University Graduate School of Medicine
Miho Kusakabe
Department of Endocrinology and Diabetes, Field of Internal Medicine, Nagoya University Graduate School of Medicine
Hiroshi Umeda
Department of Endocrinology and Diabetes, Field of Internal Medicine, Nagoya University Graduate School of Medicine
Ikuko Sato
Department of Endocrinology and Diabetes, Field of Internal Medicine, Nagoya University Graduate School of Medicine
Keiko Homma
Central Clinical Laboratories, Keio University Hospital
Takeshi Usui
Clinical Research Institute, Center for Endocrine and Metabolic Disease, National Hospital Organization Kyoto Medical Center
Yutaka Oiso
Department of Endocrinology and Diabetes, Field of Internal Medicine, Nagoya University Graduate School of Medicine

Keywords: 21-hydroxylase deficiency, genotype and phenotype

JOURNAL OPEN ACCESS

2009 Volume 48 Issue 9 Pages 705-709

DOI https://doi.org/10.2169/internalmedicine.48.1894

Details

Abstract

We report two Japanese women with androgen excess symptoms. Analyses of 21-hydroxylase gene demonstrated that a 24-year-old Japanese woman had a homozygous mutation of IVS2-13 A/C>G, while a 25-year-old Japanese woman had a compound heterozygous mutation of I172N and E245del1nt, a novel mutation which would result in completely nonfunctional enzyme due to a frame shift. As IVS2-13 A/C>G and I172N have been classified as mutations leading to severe impairment in enzyme activity, this study not only clarified a novel mutation causing 21-hydroxylase deficiency, but also demonstrated that genotype and phenotype do not correlate well in these cases.

Corresponding author

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