Severity of virilization of external genitalia in Japanese patients with salt-wasting 21-hydroxylase deficiency

Yukari Sugiyama, Haruo Mizuno, Yutaro Hayashi, Hiroki Imamine, Tetsuya Ito, Ineko Kato, Manami Yamamoto-Tomita, Mineyoshi Aoyama, Kiyofumi Asai, Hajime Togari

研究成果: Article

5 引用 (Scopus)

抄録

Females with salt-wasting (SW) 21-hydroxylase deficiency (21OHD) may present with mild external genitalia virilization, despite complete or almost complete enzyme inactivation. We therefore analyzed genotype/ phenotype correlation in 13 Japanese female patients with SW 21OHD. Criteria for classification into the SW phenotype included history of a salt-losing crisis with documented hyponatremia, hyperkalemia, add markedly elevated plasma renin activity. Urologists and pediatricians determined the Prader genital stage and classified the location of the vaginal entrance into the common urogenital sinus as low, moderate, or high. CYP21A2 gene, coding for 21-hydroxylase, was analyzed with Southern blotting and direct sequencing. Genotypes were categorized into four mutation groups, based on the degree of enzymatic activity (N, complete enzyme inactivation; groups A, < 2%, B, 3-7%, and C > 30%). Basal androgen levels were available from only six out of thirteen patients, so we could not relate androgen levels with the severity of external genitalia virilization. We compared the degree of external genitalia virilization with genotype. The severity of external genitalia virilization varied from Prader stage 1 to 4. One patient who presented with Prader 1 had a genotype consistent with Group B. In addition, discordance between Prader classification and the location of the vaginal entrance was noted; one patient classified as Prader 4 showed low vaginal entrance, while another patient classified as Prader 3'showed high vaginal entrance. The degree of the impairment of 21-hydroxylase activity does not correlate with the severity of virilization of the external genitalia in female patients with the SW type of 21OHD.

元の言語English
ページ(範囲)341-348
ページ数8
ジャーナルTohoku Journal of Experimental Medicine
215
発行部数4
DOI
出版物ステータスPublished - 09-10-2008

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Virilism
Steroid 21-Hydroxylase
Genitalia
Salts
Genotype
Androgens
Female Genitalia
Enzymes
Hyperkalemia
Renin
Hyponatremia
Genetic Association Studies
Southern Blotting
Genes
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Plasmas
Phenotype
Mutation

All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)

これを引用

Sugiyama, Yukari ; Mizuno, Haruo ; Hayashi, Yutaro ; Imamine, Hiroki ; Ito, Tetsuya ; Kato, Ineko ; Yamamoto-Tomita, Manami ; Aoyama, Mineyoshi ; Asai, Kiyofumi ; Togari, Hajime. / Severity of virilization of external genitalia in Japanese patients with salt-wasting 21-hydroxylase deficiency. :: Tohoku Journal of Experimental Medicine. 2008 ; 巻 215, 番号 4. pp. 341-348.
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title = "Severity of virilization of external genitalia in Japanese patients with salt-wasting 21-hydroxylase deficiency",
abstract = "Females with salt-wasting (SW) 21-hydroxylase deficiency (21OHD) may present with mild external genitalia virilization, despite complete or almost complete enzyme inactivation. We therefore analyzed genotype/ phenotype correlation in 13 Japanese female patients with SW 21OHD. Criteria for classification into the SW phenotype included history of a salt-losing crisis with documented hyponatremia, hyperkalemia, add markedly elevated plasma renin activity. Urologists and pediatricians determined the Prader genital stage and classified the location of the vaginal entrance into the common urogenital sinus as low, moderate, or high. CYP21A2 gene, coding for 21-hydroxylase, was analyzed with Southern blotting and direct sequencing. Genotypes were categorized into four mutation groups, based on the degree of enzymatic activity (N, complete enzyme inactivation; groups A, < 2{\%}, B, 3-7{\%}, and C > 30{\%}). Basal androgen levels were available from only six out of thirteen patients, so we could not relate androgen levels with the severity of external genitalia virilization. We compared the degree of external genitalia virilization with genotype. The severity of external genitalia virilization varied from Prader stage 1 to 4. One patient who presented with Prader 1 had a genotype consistent with Group B. In addition, discordance between Prader classification and the location of the vaginal entrance was noted; one patient classified as Prader 4 showed low vaginal entrance, while another patient classified as Prader 3'showed high vaginal entrance. The degree of the impairment of 21-hydroxylase activity does not correlate with the severity of virilization of the external genitalia in female patients with the SW type of 21OHD.",
author = "Yukari Sugiyama and Haruo Mizuno and Yutaro Hayashi and Hiroki Imamine and Tetsuya Ito and Ineko Kato and Manami Yamamoto-Tomita and Mineyoshi Aoyama and Kiyofumi Asai and Hajime Togari",
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Sugiyama, Y, Mizuno, H, Hayashi, Y, Imamine, H, Ito, T, Kato, I, Yamamoto-Tomita, M, Aoyama, M, Asai, K & Togari, H 2008, 'Severity of virilization of external genitalia in Japanese patients with salt-wasting 21-hydroxylase deficiency', Tohoku Journal of Experimental Medicine, 巻. 215, 番号 4, pp. 341-348. https://doi.org/10.1620/tjem.215.341

Severity of virilization of external genitalia in Japanese patients with salt-wasting 21-hydroxylase deficiency. / Sugiyama, Yukari; Mizuno, Haruo; Hayashi, Yutaro; Imamine, Hiroki; Ito, Tetsuya; Kato, Ineko; Yamamoto-Tomita, Manami; Aoyama, Mineyoshi; Asai, Kiyofumi; Togari, Hajime.

:: Tohoku Journal of Experimental Medicine, 巻 215, 番号 4, 09.10.2008, p. 341-348.

研究成果: Article

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T1 - Severity of virilization of external genitalia in Japanese patients with salt-wasting 21-hydroxylase deficiency

AU - Sugiyama, Yukari

AU - Mizuno, Haruo

AU - Hayashi, Yutaro

AU - Imamine, Hiroki

AU - Ito, Tetsuya

AU - Kato, Ineko

AU - Yamamoto-Tomita, Manami

AU - Aoyama, Mineyoshi

AU - Asai, Kiyofumi

AU - Togari, Hajime

PY - 2008/10/9

Y1 - 2008/10/9

N2 - Females with salt-wasting (SW) 21-hydroxylase deficiency (21OHD) may present with mild external genitalia virilization, despite complete or almost complete enzyme inactivation. We therefore analyzed genotype/ phenotype correlation in 13 Japanese female patients with SW 21OHD. Criteria for classification into the SW phenotype included history of a salt-losing crisis with documented hyponatremia, hyperkalemia, add markedly elevated plasma renin activity. Urologists and pediatricians determined the Prader genital stage and classified the location of the vaginal entrance into the common urogenital sinus as low, moderate, or high. CYP21A2 gene, coding for 21-hydroxylase, was analyzed with Southern blotting and direct sequencing. Genotypes were categorized into four mutation groups, based on the degree of enzymatic activity (N, complete enzyme inactivation; groups A, < 2%, B, 3-7%, and C > 30%). Basal androgen levels were available from only six out of thirteen patients, so we could not relate androgen levels with the severity of external genitalia virilization. We compared the degree of external genitalia virilization with genotype. The severity of external genitalia virilization varied from Prader stage 1 to 4. One patient who presented with Prader 1 had a genotype consistent with Group B. In addition, discordance between Prader classification and the location of the vaginal entrance was noted; one patient classified as Prader 4 showed low vaginal entrance, while another patient classified as Prader 3'showed high vaginal entrance. The degree of the impairment of 21-hydroxylase activity does not correlate with the severity of virilization of the external genitalia in female patients with the SW type of 21OHD.

AB - Females with salt-wasting (SW) 21-hydroxylase deficiency (21OHD) may present with mild external genitalia virilization, despite complete or almost complete enzyme inactivation. We therefore analyzed genotype/ phenotype correlation in 13 Japanese female patients with SW 21OHD. Criteria for classification into the SW phenotype included history of a salt-losing crisis with documented hyponatremia, hyperkalemia, add markedly elevated plasma renin activity. Urologists and pediatricians determined the Prader genital stage and classified the location of the vaginal entrance into the common urogenital sinus as low, moderate, or high. CYP21A2 gene, coding for 21-hydroxylase, was analyzed with Southern blotting and direct sequencing. Genotypes were categorized into four mutation groups, based on the degree of enzymatic activity (N, complete enzyme inactivation; groups A, < 2%, B, 3-7%, and C > 30%). Basal androgen levels were available from only six out of thirteen patients, so we could not relate androgen levels with the severity of external genitalia virilization. We compared the degree of external genitalia virilization with genotype. The severity of external genitalia virilization varied from Prader stage 1 to 4. One patient who presented with Prader 1 had a genotype consistent with Group B. In addition, discordance between Prader classification and the location of the vaginal entrance was noted; one patient classified as Prader 4 showed low vaginal entrance, while another patient classified as Prader 3'showed high vaginal entrance. The degree of the impairment of 21-hydroxylase activity does not correlate with the severity of virilization of the external genitalia in female patients with the SW type of 21OHD.

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