Cardiovascular and Metabolic Outcomes in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis

Tamhane, Shrikant; Rodríguez-Gutiérrez, René; Iqbal, Anoop Mohamed; Prokop, Larry J.; Bancos, Irina; Speiser, Phyllis; Murad, M. Hassan

doi:10.1210/jc.2018-01862

Cited by 92 publications

(74 citation statements)

References 38 publications

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“…In keeping with this, BP values were significantly lower in a French National survey on men with classic 21-OH deficiency compared to healthy population (10), even though other studies reported elevated BP in men (8) or women (4, 9) with CAH, possibly due to differences in treatment regimens among different studies. Finally, significant alterations in BP in CAH patients have been confirmed in the recent meta-analysis by Tamhane et al (6).…”

Section: Traditional CV Risk Factorsmentioning

confidence: 64%

“…Finally, the results of a recent meta-analysis of 14 studies, reporting data for 437 children and adolescents with CAH, confirm that CAH patients display reduced insulin sensitivity compared to controls (6).…”

Section: Traditional CV Risk Factorsmentioning

confidence: 78%

“…The vast majority of studies investigating blood pressure (BP) in CAH patients, either by ambulatory or 24 h BP measurement, documented increased systolic and/or diastolic BP values (6, 8, 21–23, 25, 43, 45–47), as summarized in Table 3. Moreover, even in the absence of overt hypertension (27), CAH children may display a reduction of the physiological nocturnal dipping in BP (21, 23, 46).…”

Section: Traditional CV Risk Factorsmentioning

confidence: 99%

“…Increasing evidences suggest that adult patients with CAH have a higher risk to develop long-term health problems including cardiovascular diseases, impaired fertility and bone health (3–5). However, signs and symptoms of forerunner conditions of adult disease are already detectable in childhood (6, 7).…”

Section: Introductionmentioning

confidence: 99%

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Cardiovascular Health in Children and Adolescents With Congenital Adrenal Hyperplasia Due to 21-Hydroxilase Deficiency

Improda¹,

Barbieri²,

Ciccarelli³

et al. 2019

Front. Endocrinol.

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Increasing evidence indicates that adults with Congenital Adrenal Hyperplasia (CAH) may have a cluster of cardiovascular (CV) risk factors. In addition, ongoing research has highlighted that children and adolescents with CAH are also prone to developing unfavorable metabolic changes, such as obesity, hypertension, insulin resistance, and increased intima-media thickness, which places them at a higher risk of developing CV disease in adulthood. Moreover, CAH adolescents may exhibit subclinical left ventricular diastolic dysfunction and impaired exercise performance, with possible negative consequences on their quality of life. The therapeutic management of patients with CAH remains a challenge and current treatment regimens do not always allow optimal biochemical control. Indeed, overexposure to glucocorticoids and mineralocorticoids, as well as to androgen excess, may contribute to the development of unfavorable metabolic and CV abnormalities. Long-term prospective studies on large cohorts of patients will help to clarify the pathophysiology of metabolic alterations associated with CAH. Meanwhile, further efforts should be made to optimize treatment and identify new therapeutic approaches to prevent metabolic derangement and improve long-term health outcomes of CAH patients.

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Section: Traditional CV Risk Factorsmentioning

confidence: 64%

Section: Traditional CV Risk Factorsmentioning

confidence: 78%

Section: Traditional CV Risk Factorsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Cardiovascular Health in Children and Adolescents With Congenital Adrenal Hyperplasia Due to 21-Hydroxilase Deficiency

Improda¹,

Barbieri²,

Ciccarelli³

et al. 2019

Front. Endocrinol.

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“…The majority of studies including adults and children with CAH have reported an increased body fat mass assessed by DXA [96,101,102,106,107], which enables separation between lean mass (which may be increased due to hyperandrogenism) from fat mass. Elevated cardiometabolic risk, including insulin resistance [4,94,[108][109][110][111][112][113][114][115][116][117], has been reported in a large number of studies on CAH, with a few reporting increased rate of established cardiovascular disease [103,118], and diabetes (including gestational diabetes) [81,109,118]. Very few individuals with CAH above 50 years of age have been included in studies, and thus it could be expected that the rate will increase since cardiovascular disease and diabetes usually develop later in life [1].…”

Section: Obesity Diabetes and Cardiovascular Diseasementioning

confidence: 99%

Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency

2019

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Purpose 3β-hydroxysteroid dehydrogenase type 2 deficiency (3βHSD2D) is a very rare variant of congenital adrenal hyperplasia (CAH) causing less than 0.5% of all CAH. The aim was to review the literature. Methods PubMed was searched for relevant articles. Results 3βHSD2D is caused by HSD3B2 gene mutations and characterized by impaired steroid synthesis in the gonads and the adrenal glands and subsequent increased dehydroepiandrosterone (DHEA) concentrations. The main hormonal changes observed in patients with 3βHSD2D are elevated ratios of the Δ5-steroids over Δ4-steroids but molecular genetic testing is recommended to confirm the diagnosis. Several deleterious mutations in the HSD3B2 gene have been associated with saltwasting (SW) crisis in the neonatal period, while missense mutations have been associated with a non-SW phenotype. Boys may have ambiguous genitalia, whereas girls present with mild or no virilization at birth. The existence of non-classic 3βHSD2D is controversial. In an acute SW crisis, the treatment includes prompt rehydration, correction of hypoglycemia, and parenteral hydrocortisone. Similar to other forms of CAH, glucocorticoid and mineralocorticoid replacement is needed for long-term management. In addition, sex hormone replacement therapy may be required if normal progress through puberty is failing. Little is known regarding possible negative long-term consequences of 3βHSD2D and its treatments, e.g., fertility, final height, osteoporosis and fractures, adrenal and testicular tumor risk, and mortality. Conclusion Knowledge is mainly based on case reports but many long-term outcomes could be presumed to be similar to other types of CAH, mainly 21-hydroxylase deficiency, although in 3βHSD2D it seems to be more difficult to suppress the androgens.

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Fat Distribution and Lipid Profile of Young Adults with Congenital Adrenal Hyperplasia Due to 21‐Hydroxylase Enzyme Deficiency

Borges

Oliveira

Lemos-Marini

et al. 2020

Lipids

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We aimed to compare detailed fat distribution and lipid profile between young adults with congenital adrenal hyperplasia due to 21‐hydroxylase enzyme deficiency and a control group. We also verified independent associations of treatment duration and daily hydrocortisone dose equivalent (HDE) with lipid profile within patients. This case–control study included 23 patients (7 male and 16 female) matched by an age range of young adults (18–31 years) with 20 control subjects (8 male and 12 female). Dual energy X‐ray absorptiometry was used to measure the fat distribution. Male patients demonstrated elevated indices of fat mass for total (7.7 ± 2.1 vs. 4.5 ± 1.3 kg/m2, p = 0.003), trunk (4.0 ± 1.2 vs. 2.2 ± 0.8 kg/m2, p = 0.005), android (0.63 ± 0.24 vs. 0.32 ± 0.15 kg/m2, p = 0.008), gynoid (1.34 ± 0.43 vs. 0.74 ± 0.24 kg/m2, p = 0.005), arm (0.65 ± 0.16 vs. 0.39 ± 0.10 kg/m2, p = 0.009), and leg regions (2.7 ± 0.8 vs. 1.6 ± 0.4 kg/m2, p = 0.005) than the control group, but not in females. However, female patients demonstrated elevated ratio of low‐density lipoprotein cholesterol to high‐density lipoprotein cholesterol (1.90 ± 0.46 vs. 1.39 ± 0.47, p = 0.009) than the control group, but not in males. Total fat mass was inversely correlated with total testosterone (r = −0.64, p = 0.014) and positively correlated with leptin in males (r = 0.75, p = 0.002). An elevated daily HDE (β = 0.43, p = 0.038 and β = 0.47, p = 0.033) and trunk to total fat mass ratio (β = 0.46, p = 0.025, and β = 0.45, p = 0.037) were independently correlated with impaired lipid profile markers. Although there is no altered lipid profile, male patients demonstrated an increased fat distribution. However, female patients presented with an impaired lipid profile marker but demonstrated close values of normal fat distribution. Interestingly, the dose of glucocorticoid therapy can have some role in the lipid mechanisms.

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Cardiovascular and Metabolic Outcomes in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis

Cited by 92 publications

References 38 publications

Cardiovascular Health in Children and Adolescents With Congenital Adrenal Hyperplasia Due to 21-Hydroxilase Deficiency

Cardiovascular Health in Children and Adolescents With Congenital Adrenal Hyperplasia Due to 21-Hydroxilase Deficiency

Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency

Fat Distribution and Lipid Profile of Young Adults with Congenital Adrenal Hyperplasia Due to 21‐Hydroxylase Enzyme Deficiency

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