Cardio-metabolic risk factors in youth with classical 21-hydroxylase deficiency

Ariyawatkul, Kansuda; Tepmongkol, Supatporn; Aroonparkmongkol, Suphab; Sahakitrungruang, Taninee

doi:10.1007/s00431-017-2875-2

Cited by 23 publications

(25 citation statements)

References 48 publications

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“…Therapy with glucocorticoids and androgen control influence metabolic status and outcome in all patients with CAH [ 163 – 166 ]. Long-term glucocorticoid replacement may cause abdominal obesity and hypertension with an onset even in youngsters [ 131 , 167 – 169 ]. Obesity is frequently associated with high CRP levels, hypercholesterolemia, hyperlipidemia, insulin resistance, diabetes, high leptin, and low adiponectin levels causing a common metabolic syndrome in ~20% of patients with a cardiovascular risk independent of mutations [ 79 , 123 , 167 , 170 ].…”

Section: Somatic Outcomesmentioning

confidence: 99%

“…Long-term glucocorticoid replacement may cause abdominal obesity and hypertension with an onset even in youngsters [ 131 , 167 – 169 ]. Obesity is frequently associated with high CRP levels, hypercholesterolemia, hyperlipidemia, insulin resistance, diabetes, high leptin, and low adiponectin levels causing a common metabolic syndrome in ~20% of patients with a cardiovascular risk independent of mutations [ 79 , 123 , 167 , 170 ]. Very few studies analyzed cardiovascular outcomes according to the genotype [ 111 , 123 ].…”

Section: Somatic Outcomesmentioning

confidence: 99%

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Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

2020

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Despite numerous studies in the field of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, some clinical variability of the presentation and discrepancies in the genotype/phenotype correlation are still unexplained. Some, but not all, discordant phenotypes caused by mutations with known enzyme activity have been explained by in silico structural changes in the 21-hydroxylase protein. The incidence of P30L mutation varies in different populations and is most frequently found in several Central and Southeast European countries as well as Mexico. Patients carrying P30L mutation present predominantly as non-classical CAH; however, simple virilizing forms are found in up to 50% of patients. Taking into consideration the residual 21-hydroxulase activity present with P30L mutation this is unexpected. Different mechanisms for increased androgenization in patients carrying P30L mutation have been proposed including influence of different residues, accompanying promotor allele variability or mutations, and individual androgene sensitivity. Early diagnosis of patients who would present with SV is important in order to improve outcome. Outcome studies of CAH have confirmed the uniqueness of this mutation such as difficulties in phenotype classification, different fertility, growth, and psychologic issues in comparison with other genotypes. Additional studies of P30L mutation are warranted.

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Section: Somatic Outcomesmentioning

confidence: 99%

Section: Somatic Outcomesmentioning

confidence: 99%

Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

2020

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“… 1 It is a group of autosomal recessive disorders that occur as a result of a mutation in the genes. 2 , 3 This interferes with the cortisol synthesis pathway and leads to decreased cortisol synthesis with or without aldosterone deficiency and increased production of adrenocorticotropic hormone through negative feedback. 2 , 4 In consequence, a hyper androgenic state with accelerated growth results in early epiphyseal closure and compromised final adult height.…”

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confidence: 99%

Growth characteristics in children with congenital adrenal hyperplasia

Alzanbagi

Milyani

Al-Agha

2018

SMJ

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Objectives:To evaluate the growth parameters in congenital adrenal hyperplasia patients in Jeddah, Saudi Arabia.Methods:This is a descriptive retrospective study over the period of 5 years. Data analysis was using Statistical Package for Social Science. The study included 90 participants in which 61 were girls and 29 were boys aged 0 to 18 years . They were evaluated in Pediatric Endocrinology Clinic at King Abdulaziz University Hospital in Jeddah, Saudi Arabia, between January 2012 and January 2017.Results:A total of 90 subjects, of which 67.8% were females and 32.2% were males. Subjects who were underweight constituted 19.1% of the population, while those who were obese were estimated up to 17.6% of the population. Of the children, 25.7% were suffering from short stature and 74.3% had normal height. Approximately 11.8% of the children who suffered from short stature also suffered from hypothyroidism. Mid-parental height of those who suffered from short stature is 159.8 cm.Conclusion:This study showed a significant effect of congenital adrenal hyperplasia on both height, weight, and body mass index. Risk factors includes glucocorticoids dosage, compliance to treatment, and regular follow up. Personalized treatment approach should be followed with all patients diagnosed with congenital adrenal hyperplasia as well as close monitoring and targeted therapy.

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“…Data on the lipid levels of patients with CAH are limited. Previous studies reported lipid levels within the normal range in CAH patients, or observed no difference in lipid levels between CAH patients and healthy controls [22][23][24]. Although more favourable lipid profiles have been reported in CAH patients compared to control subjects, some studies have observed dyslipidaemia in adults with CAH [25,26].…”

Section: Discussionmentioning

confidence: 94%

Serum Fetuin-A and Insulin Levels in Classic Congenital Adrenal Hyperplasia

et al. 2020

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Androgens play a pivotal role in non-reproductive organs such as the kidney, heart, liver, and pancreas. As androgen receptors are expressed in pancreatic and liver cells, excess testosterone can result in hypersecretion of insulin and fetuin-A, a protein produced in the liver. The expression of fetuin-A, a natural inhibitor of tyrosine kinase activity in muscle and liver, leads to insulin resistance. In addition, insulin and fetuin-A levels are thought to be affected by drugs such as glucocorticoids (GCs) and fludrocortisone. However, whether fetuin-A and insulin levels are affected by androgens and GCs in patients with classic congenital adrenal hyperplasia (CAH) is unknown. This cross-sectional study included 56 CAH patients and 70 controls. Analyses were stratified by sex and prepubertal/pubertal status to control for potential changes in serum metabolic/inflammatory markers associated with the production of sex steroids. Fasting blood glucose, insulin, triglyceride, total cholesterol, high density lipoprotein-cholesterol, aspartate aminotransferase, alanine aminotransferase, fetuin-A, and high-sensitivity C-reactive protein (hs-CRP) levels were measured in blood samples. In addition, 17α-hydroxyprogesterone, androstenedione, total testosterone, free testosterone, and dehydroepiandrosterone sulfate levels were measured before medication was administered. Insulin and fetuin-A levels were significantly higher in CAH patients than in controls. The unfavourably high levels of these substances exhibited a positive correlation with total and free testosterone. Regression analysis revealed that fetuin-A and free testosterone were the only independent predictors of the insulin level, while insulin and free testosterone levels significantly predicted the fetuin-A level (R2=42.7% and 59.8%). Differences were also observed in triglyceride and hs-CRP levels between the pubertal and prepubertal groups. We conclude that serum fetuin-A and insulin levels may be associated with androgens in CAH patients.

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Cardio-metabolic risk factors in youth with classical 21-hydroxylase deficiency

Cited by 23 publications

References 48 publications

Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Growth characteristics in children with congenital adrenal hyperplasia

Serum Fetuin-A and Insulin Levels in Classic Congenital Adrenal Hyperplasia

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