21-Hydroxylase Deficiency Associated with Male Infertility: Report of 2 Cases with Gene Analyses

Sumida, Chihiro; Kondoh, Nobuyuki; Kurajoh, Masafumi; Koyama, Hideki; Tsutsumi, Zenta; Moriwaki, Yuji; Yamamoto, Tetsuya

doi:10.2169/internalmedicine.50.5083

Cited by 5 publications

(2 citation statements)

References 22 publications

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“…It appears later in infancy or adolescence with stigmata derived from androgen excess, such as hirsutism and precocious pseudopuberty. In adults, this form is responsible for decreased fertility [61][62][63].…”

Section: Deficiency Of 21-hydroxylasementioning

confidence: 99%

Perspectives in Pediatric Pathology, Chapter 22. Testicular Involvement in Systemic Diseases

et al. 2016

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Normal testicular physiology requires appropriate function of endocrine glands and other tissues. Testicular lesions have been described in disorders involving the hypothalamus-hypophysis, thyroid glands, adrenal glands, pancreas, liver, kidney, and gastrointestinal tract. Testicular abnormalities can also associate with chronic anemia, obesity, and neoplasia. Although many of the disorders that affect the above-mentioned glands and tissues are congenital, acquired lesions may result in hypogonadism in children and adolescents.

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Section: Deficiency Of 21-hydroxylasementioning

confidence: 99%

Perspectives in Pediatric Pathology, Chapter 22. Testicular Involvement in Systemic Diseases

et al. 2016

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“…The 21-OH catalyzes the conversion of progesterone and 17-hydroxyprogesterone (17-OHP) into 11-deoxycorticosterone (11-DOC) and 11-deoxycortisol. The enzyme is coded by the CYP21A2 gene at position 6p21.3 [ 1 , 4 ]. Genes involved in steroidogenesis usually comprise 7 to 9 exons but the CYP21A2 gene has 10 exons.…”

Section: Introductionmentioning

confidence: 99%

Detection of mutations in theCYP21A2gene: genotype-phenotype correlation in Slovenian couples with conceiving problems

Herodež

Fijavž

Zagradišnik

et al. 2015

Balkan Journal of Medical Genetics

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The objective of this study was to compare the CYP 21A2 genetic profiles of couples with unexplained fertility problems (UFP) with genetic profiles of healthy controls (HCs). Furthermore, we analyzed associations between mutations in the CYP21A2 gene and various clinical and laboratory parameters. Allele-specific polymerase chain reaction (PCR) was used in 638 probands with UFP and 200 HCs. Statistic analysis with χ2 was used to study the association of mutations with infertility. The effect of mutations on particular clinical and laboratory parameters was assessed with the analysis of variance (ANOVA) test. With regard to the CYP21A2 gene, 0.6% of probands with UFP and 0.5% of HCs were positive for the c.290-13A/C>G mutation; 0.6% of probands with UFP and 1.5% of HCs were positive for the p.I172N mutation; there were no probands with UFP positive for the p.P30L mutation, whereas 0.5% of HCs were; and 0.2% of probands with UFP and 0.5% of HCs were found to have the p.V281L mutation. We found a significant association between c.290-13A/C>G mutation and the frequency of significant hormone deviations (χ2 = 6.997, p = 0.008). Similar association was also observed between the c.29013A/C>G mutation and the frequency of polycystic ovary syndrome (PCOS) (χ2 = 16.775, p = 0.000). Our findings indicate that no significant difference in the prevalence of CYP 21A2 mutations can be found in probands with UFP when compared with HCs without infertility history. The results also imply the significant association of the c.290-13A/ C>G mutation in the CYP21A2 gene, not only with the frequency of PCOS, but also with the frequency of significant hormone deviations.

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Human Cytochrome P450 Enzymes

Guengerich

2015

Cytochrome P450

132

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21-Hydroxylase Deficiency Associated with Male Infertility: Report of 2 Cases with Gene Analyses

Cited by 5 publications

References 22 publications

Perspectives in Pediatric Pathology, Chapter 22. Testicular Involvement in Systemic Diseases

Perspectives in Pediatric Pathology, Chapter 22. Testicular Involvement in Systemic Diseases

Detection of mutations in theCYP21A2gene: genotype-phenotype correlation in Slovenian couples with conceiving problems

Human Cytochrome P450 Enzymes

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