1,721,074 research outputs found
Congenital adrenal hyperplasia. About causes and consequences
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197565.pdf (Publisher’s version ) (Open Access)Radboud University, 18 december 2018Promotores : Sweep, C.G.J., Noordam, C. Co-promotores : Claahsen-van der Grinten, H.L., Span, P.N
Turner syndrome. Clinical studies on karyotype-phenotype associations, cardiac abnormalities and socioeconomic status
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236416.pdf (Publisher’s version ) (Open Access)Radboud University, 24 september 2021Promotores : Kapusta, L., Claahsen-van der Grinten, H.L. Co-promotor : Velden, A.A.E.M. van der203 p
Cardiovascular risk and steroid metabolism in Congenital Adrenal Hyperplasia
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195511.pdf (Publisher’s version ) (Open Access)Radboud University, 12 oktober 2018Promotores : Noordam, C., Hermus, A.R.M.M. Co-promotores : Kapusta, L., Claahsen-van der Grinten, H.L.241 p
Congenital adrenal hyperplasia: clinical and biochemical consequences of elevated adrenal steroid precursors
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201207.pdf (Publisher’s version ) (Open Access)Radboud University, 20 maart 2019Promotores : Noordam, C., Sweep, C.G.J. Co-promotores : Claahsen-van der Grinten, H.L., Span, P.N
Adrenal rest tumours in congenital adrenal hyperplasia.
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53663.pdf (Publisher’s version ) (Open Access)RU Radboud Universiteit Nijmegen, 03 oktober 2007Promotores : Hermus, A.R.M.M., Sweep, C.G.J. Co-promotor : Otten, B.J.182 p
Cardiovascular health, growth and gonadal function in children and adolescents with congenital adrenal hyperplasia.
No full textAfter the introduction of replacement therapy with glucocorticoids and mineralocorticoids in the 1950s, congenital adrenal hyperplasia (CAH) is no longer a life-limiting condition. However, due to the successful introduction of medical steroid hormone replacement, CAH has become a chronic condition, with associated comorbidities and long-term health implications. The aim of treatment is the replacement of mineralocorticoids and glucocorticoids and the normalisation of elevated androgen concentrations. Long-term consequences of the condition and current treatment regimens include unfavourable changes in the cardiovascular risk profile, impaired growth, testicular adrenal rest tumours (TART) in male and subfertility in both male and female patients with CAH. Optimising replacement therapy in patients with CAH remains challenging. On one hand, treatment with supraphysiological doses of glucocorticoids might be required to normalise androgen concentrations and decrease size or presence of TARTs. On the other hand, treatment with supraphysiological doses of glucocorticoids is associated with an increased prevalence of unfavourable cardiovascular and metabolic risk profiles as well as impaired longitudinal growth and gonadal function. Therefore, treatment of children and adults with CAH requires an individualised approach. Careful monitoring for early signs of complications is already warranted during paediatric healthcare provision to prevent and reduce the impact of comorbidities in later life
[From gene to disease: adrenogenital syndrome and the CYP21A2 gene]
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53065.pdf (Publisher’s version ) (Open Access)Congenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis. In more than 90% of cases CAH is caused by CYP21 (21-hydroxylase) deficiency leading to impaired cortisol and aldosterone synthesis and an increase in ACTH secretion. This then leads to stimulation of the adrenal gland and overproduction of androgens with virilisation of female external genitalia. The CYP21 enzyme consists of 495 amino acids and is encoded by the CYP21A2 gene located on chromosome 6p21.3 close to a 98% homologous pseudogene (CYP21p). The pseudogene contains several inactivating mutations that may be transferred to the active CYP21A2 gene by gene conversion (more than 60% of the affected alleles) or gene deletion (30% of the affected alleles). The severity of the disease depends on the degree of CYP21 deficiency. The diagnosis can be made by measuring levels of 17-hydroxyprogesterone and androstenedione in serum
[From gene to disease: adrenogenital syndrome and the CYP21A2 gene]
No full textCongenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis. In more than 90% of cases CAH is caused by CYP21 (21-hydroxylase) deficiency leading to impaired cortisol and aldosterone synthesis and an increase in ACTH secretion. This then leads to stimulation of the adrenal gland and overproduction of androgens with virilisation of female external genitalia. The CYP21 enzyme consists of 495 amino acids and is encoded by the CYP21A2 gene located on chromosome 6p21.3 close to a 98% homologous pseudogene (CYP21p). The pseudogene contains several inactivating mutations that may be transferred to the active CYP21A2 gene by gene conversion (more than 60% of the affected alleles) or gene deletion (30% of the affected alleles). The severity of the disease depends on the degree of CYP21 deficiency. The diagnosis can be made by measuring levels of 17-hydroxyprogesterone and androstenedione in serum
Novel treatments for congenital adrenal hyperplasia
No full textPatients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) need life-long medical treatment to replace the lacking glucocorticoids and potentially lacking mineralocorticoids and to lower elevated adrenal androgens. Long-term complications are common, including gonadal dysfunction, infertility, and cardiovascular and metabolic co-morbidity with reduced quality of life. These complications can be attributed to the exposure of supraphysiological dosages of glucocorticoids and the longstanding exposure to elevated adrenal androgens. Development of novel therapies is necessary to address the chronic glucocorticoid overexposure, lack of circadian rhythm in glucocorticoid replacement, and inefficient glucocorticoid delivery with concomitant periods of hyperandrogenism. In this review we aim to give an overview about the current treatment regimens and its limitations and describe novel therapies especially evaluated for 21OHD patients
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