Results 41 to 50 of about 445,228 (273)
Classic congenital adrenal hyperplasia and its impact on reproduction.
Fertility and Sterility, 2019 Women with classic congenital adrenal hyperplasia (CAH) can suffer from impaired fertility rates as a result of increased androgen secretion or impaired sex steroid production.
L. Gomes, Tania A S Bachega, B. Mendonca
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Congenital Adrenal Hyperplasia [PDF]
F1000Research, 2015 Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years,
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Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation.
Fertility and Sterility, 2019 Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene, located on the short arm of chromosome 6.
M. L. Narasimhan, A. Khattab
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Congenital Adrenal Hyperplasia (CAH) - Causes, Diagnosis, Symptoms, Treatment
Quality in SportIntroduction and Purpose: Congenital adrenal hyperplasia represents a group of genetic disorders characterized by improper adrenal steroidogenesis, resulting in deficiency or absence of cortisol and/or aldosterone, and varying degrees of disturbances in ...
Oskar Targoński +9 more
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Armc5 deletion causes developmental defects and compromises T-cell immune responses
Nature Communications, 2017 Mutations in ARMC5 are associated with risk of primary macronodular adrenal gland hyperplasia. Here the authors show that mice lacking Armc5 have adrenal gland hyperplasia and defective T-cell proliferation, differentiation, survival andin vivoT-cell ...
Yan Hu +11 more
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NonClassic Congenital Adrenal Hyperplasia [PDF]
International Journal of Pediatric Endocrinology, 2010 Nonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias ...
Witchel, Selma Feldman, Azziz, Ricardo
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Advanced Science, EarlyView.Impaired endometrial receptivity contributes to the poor pregnancy outcomes in women with PCOS. The authors found that decreased endometrial IL‐22 levels and disrupted STAT3‐IGFBP5 signaling pathway contributed to impaired endometrial receptivity. Supplementation with IL‐22 or IGFBP5 exerts a protective effect on implantation failure in PCOS‐like mice,
Baoying Liao +13 more
wiley +1 more source
Assisted Reproduction in Congenital Adrenal Hyperplasia
Frontiers in Endocrinology, 2019 Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders characterized by defects of adrenal steroidogenesis due to mutations in one of the following enzymes: 21-hydroxylase (21OH), 11β-hydroxylase (11βOH), 17α-hydroxylase (17OH ...
A. Chatziaggelou +4 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
wiley +1 more source
Frontiers in Endocrinology, 2023 Newborn screening for congenital adrenal hyperplasia using 17-hydroxyprogesterone by immunoassay remains controversial despite screening been available for almost 40 years. Screening is confounded by poor immunoassay specificity, fetal adrenal physiology,
Mark de Hora +7 more
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