A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters

Espinosa-Herrera, Fernando; Tito-Álvarez, Ana M; Espín, Estefanía; Gómez-Correa, Diego; Dueñas-Espín, Iván; Pinto‐Basto, Jorge

doi:10.3390/mol2net-05-06245

Cited by 4 publications

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“…Congenital adrenal hyperplasia is an autosomal recessive disorder due to a deficiency of one or more enzymes in the steroidogenesis process 1,8 . The most common CAH disorders are caused by 21‐hydroxylase deficiency, accounting for approximately 90%–95% of all CAH cases, 9 and the remaining 5%–8% of CAH cases are largely attributed to 11β‐hydroxylase deficiency 10,11 . The 17 alpha‐hydroxylase deficiency is a rare form of CAH, accounting for approximately 1% of CAH cases with an estimated incidence of approximately 1 in 1,000,000 newborns 3,8 .…”

Section: Discussionmentioning

confidence: 99%

“…1,8 The most common CAH disorders are caused by 21-hydroxylase deficiency, accounting for approximately 90%-95% of all CAH cases, 9 and the remaining 5%-8% of CAH cases are largely attributed to 11β-hydroxylase deficiency. 10,11 The 17 alpha-hydroxylase deficiency is a rare form of CAH, accounting for approximately 1% of CAH cases with an estimated incidence of approximately 1 in 1,000,000 newborns. 3,8 The first case of 17α-OHD was reported by Biglieri et al in 1966, describing a 35-year-old female patient with hypertension, hypokalemia, and sexual infantilism.…”

Section: Discussionmentioning

confidence: 99%

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17 alpha‐hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation

Han

Wang

2022

Clinical Case Reports

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

17 alpha‐hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation

Han

Wang

2022

Clinical Case Reports

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“…CAH is an autosomal recessive disorder caused by mutations in the genes encoding essential enzymes for the synthesis of corticosteroids. As a result of the imbalance between glucocorticoids and mineralocorticoids, this leads to metabolic disorders, and thus morbidity and mortality in these patients are very high[ 9 ]. The enzymes involved include 21-hydroxylase, 11β-hydroxylase, 17α-hydroxylase, 3β-hydroxysteroid dehydrogenase/isomerase etc .…”

Section: Discussionmentioning

confidence: 99%

Cytochrome P450 family 17 subfamily A member 1 mutation causes severe pseudohermaphroditism: A case report

Gong¹,

Qin²,

Li³

et al. 2022

WJCC

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BACKGROUND 17α-Hydroxylase deficiency (17-OHD) is a rare form of congenital adrenal hyperplasia, characterized by hypertension, hypokalemia, and gonadal dysplasia. However, due to the lack of a comprehensive understanding of this disease, it is prone to misdiagnosis and missed diagnosis, and there is no complete cure. CASE SUMMARY We report a female patient with 17-OHD. The patient was admitted to the Department of Neurology of our hospital due to limb weakness. During treatment, it was found that the patient’s condition was difficult to correct except for hypokalemia, and her blood pressure was difficult to control with various antihypertensive drugs. She was then transferred to our department for further treatment. On physical examination, the patient's gonadal development was found to be abnormal, and chromosome analysis demonstrated karyotype 46,XY. Considering the possibility of 17-OHD, the cytochrome P450 family 17 subfamily A member 1 ( CYP17A1 ) test was performed to confirm the diagnosis. CONCLUSION The clinical manifestations of 17-OHD are complex. Hormone determination, imaging examination, chromosome determination and CYP17A1 gene test are helpful for early diagnosis.

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“…The CYP17A1 enzyme plays a crucial role in the steroidogenic pathway that is responsible for the synthesis of glucocorticoids, mineralocorticoids, androgens, estrogens, and progestins. Mutations in this gene are associated with congenital adrenal hyperplasia (CAH), a rare inherited disorder that affects both sexes [ 11 , 12 , 13 ]. Children and adolescents with CAH are at a high risk of obesity, owing to 21-hydroxylase deficiency [ 14 ].…”

Section: Introductionmentioning

confidence: 99%

Effect of Differences in the Microbiome of Cyp17a1-Deficient Mice on Atherosclerotic Background

Künstner

Aherrahrou

Hirose

et al. 2021

Cells

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CYP17A1 is a cytochrome P450 enzyme that has 17-alpha-hydroxylase and C17,20-lyase activities. Cyp17a11 deficiency is associated with high body mass and visceral fat deposition in atherosclerotic female ApoE knockout (KO, d/d or -/-) mice. In the present study, we aimed to investigate the effects of diet and Cyp17a1 genotype on the gut microbiome. Female Cyp17a1 (d/d) x ApoE (d/d) (DKO) and ApoE (d/d) (controls) were fed either standard chow or a Western-type diet (WTD), and we demonstrated the effects of genetics and diet on the body mass of the mice and composition of their gut microbiome. We found a significantly lower alpha diversity after accounting for the ecological network structure in DKO mice and WTD-fed mice compared with chow-fed ApoE(d/d). Furthermore, we found a strong significant positive association of the Firmicutes vs. Bacteroidota ratio with body mass and the circulating total cholesterol and triglyceride concentrations of the mice when feeding the WTD, independent of the Cyp17a1 genotype. Further pathway enrichment and network analyses revealed a substantial effect of Cyp17a1 genotype on associated cardiovascular and obesity-related pathways involving aspartate and L-arginine. Future studies are required to validate these findings and further investigate the role of aspartate/L-arginine pathways in the obesity and body fat distribution in our mouse model.

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A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters

Cited by 4 publications

References 0 publications

17 alpha‐hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation

17 alpha‐hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation

Cytochrome P450 family 17 subfamily A member 1 mutation causes severe pseudohermaphroditism: A case report

Effect of Differences in the Microbiome of Cyp17a1-Deficient Mice on Atherosclerotic Background

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