Mutation of cytochrome P-45017 alpha gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17.

Miura, K; Yasuda, K; Yanase, T; Yamakita, N; Sasano, H; Nawata, H; Inoue, M; Fukaya, T; Shizuta, Y

doi:10.1210/jcem.81.10.8855840

Cited by 84Sexual Differentiation and DisordersHormonal Regulation and HypertensionAdrenal Hormones and Disorders

Mutation of cytochrome P-45017 alpha gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17.

Miura, K, Yasuda, K, Yanase, T, Yamakita, N, Sasano, H, Nawata, H, Inoue, M, Fukaya, T +1 more·1996·The Journal of Clinical Endocrinology & Metabolism

DOI 10.1210/jcem.81.10.8855840

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Abstract

A 17-yr-old female Japanese patient, who was reported in 1968 as having glucocorticoid-responsive hyperaldosteronism but was presumed to have a defect of 17 alpha-hydroxylation mainly in the adrenal glands as the etiology of her illness, was followed. The relationship between clinical manifestations and molecular abnormalities in cytochrome P-45017 alpha gene (CYP17) was also reviewed based on the literature on Japanese patients with 17 alpha-hydroxylase deficiency. She has been treated with dexamethasone, resulting in normal blood pressure and normokalemia for 28 yr. She had almost normal gonadal function with regular menstruation on her first admission. Because of sustained genital bleeding, however, she underwent total hysterectomy with an ovarian biopsy at the age of 42 yr. No follicles or corpus luteum were detected in the ovarian specimen. At the age of 45 yr, the basal levels of sex steroids were decreased, while those of gonadotropins were increased. A genetic study on CYP17 revealed a homozygous deletion of phenylalanine (Phe) codon (TTC) at either amino acid position 53 or 54 in exon 1. A review of the literature revealed 4 patients with this type of CYP17 mutation, including the present patient, out of a total of 11 young adult Japanese patients. The clinical manifestations caused by congenitally deficient gonadal function were not marked in any of these 4 patients, but were marked in 5 of the 7 patients with different mutations of CYP17. The remaining 2 female patients had irregular menstruation. The pretreatment urine/plasma values of aldosterone were variable, normal to high, in individual patients, regardless of the structural abnormalities of CYP17. The following conclusions were suggested: 1) this type of CYP17 mutation is associated with well preserved gonadal function in young adult patients, but it likely causes early reduction of gonadal function with increasing age in these patients; 2) the prevalence of this type of CYP17 mutation is quite high in Japanese patients; and 3) the pretreatment hyperaldosteronism observed in the present patient seems not to be related to the mutation of CYP17.

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A deletion of phenylalanine at position 53 or 54 is a recurrent mutation in 17α-hydroxylase deficiency.
“3) a deletion of phenylalanine at position 53 or 54 (272);”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [272]

17-Hydroxylation deficiency in man
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Mutation of cytochrome P450 17alphagene (CYP17) in a Japanese patient previosly reported as having glucocorticoid-responsive hyperaldosteronism : with a review of Japanese patients with mutations of CYP17
Miura, K. (1996)
Self-citation
Genetic analysis of the cytochrome P‐450c17α (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17α‐hydroxylase deficiency
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Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17α-hydroxylase/17,20-lyase deficiency
Qiao, J., Chen, X., Zuo, C., Gu, Y., Liu, B., Liang, J., Lu, Y., Tang, J., Wu, Y., Chen, M., et al. (2010) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2009.03607.x · Cited by 30 · see citing works
Novel Mutation in Cytochrome P450c17 Causes Complete Combined 17α-Hydroxylase/17,20-Lyase Deficiency
Bhangoo, A., Aisenberg, J. E., Chartoff, A., Ten, S., Wallerstein, R. J., Wolf, C. R., & Auchus, R. J. (2008) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2008.21.2.185 · Cited by 12 · see citing works
Combined 17α-Hydroxylase/17,20-Lyase Deficiency due to a 7-Basepair Duplication in the N-Terminal Region of the Cytochrome P45017α(CYP17) Gene*
Yanase, T., Sanders, D., Shibata, A., Matsui, N., Simpson, E. R., & Waterman, M. R. (1990) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-70-5-1325 · Cited by 46 · see citing works
Self-citation

Authors: Miura, K., Yasuda, K., Yanase, T., Yamakita, N., Sasano, H., Nawata, H., Inoue, M., Fukaya, T., & Shizuta, Y.
Affiliations: Matsunami General Hospital (JP)
ORCID: Yasuda, K
Yanase, T
Sasano, H
Inoue, M
Venue: The Journal of Clinical Endocrinology & Metabolism
Publisher: The Endocrine Society
Published: 1996-10
Volume: 81
Issue: 10
Pages: 3797-3801
ISSN: 0021-972X (ISSN-L)
1945-7197
DOI: 10.1210/jcem.81.10.8855840
OpenAlex: W2084495321
Cited by: 84
References: 5
Citations by year: 2025: 2 · 2024: 3 · 2023: 5 · 2022: 2 · 2021: 4 · 2020: 3 · 2019: 2 · 2018: 4 · 2017: 2 · 2016: 3 · 2015: 5 · 2014: 2 · 2013: 4 · 2012: 3
FWCI: 0.25
Type: journal article
Language: en
Open access: closed
Locations: The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal Regulation and Hypertension
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
Keywords: CYP17, 17-hydroxylase deficiency, gonadal function, premature ovarian failure, Japanese patients, dexamethasone
MeSH terms: Adolescent, Adrenal Cortex Hormones, Base Sequence, Codon, Cytochrome P-450 Enzyme System, Female, Glucocorticoids, Humans, Hyperaldosteronism, Japan, Male, Menstruation Disturbances, Mutation, Phenylalanine, Renin, Gonadal Steroid Hormones, Steroid 17-alpha-Hydroxylase, Gene Deletion, Sequence Analysis, DNA, DNA Primers

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Mutation of cytochrome P-45017 alpha gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17.

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