Cardiac function in paediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency

Mooij, Christiaan F.; Pourier, Milanthy S.; Weijers, Gert; Korte, Chris L. de; Fejzic, Zina; Grinten, Hedi L Claahsen–van der; Kapusta, Livia

doi:10.1111/cen.13529

Cited by 7 publications

(11 citation statements)

References 43 publications

(67 reference statements)

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“…We could not prove that excess androgens in our patients had a role in their echocardiographic findings owing to the normal androgen levels in our patients and absent significant correlation between echocardiographic parameters and serum‐free testosterone levels as well as pretreatment 17‐hydroxyprogesterone levels. Diastolic hypertension observed in this study might be the reason for myocardial hypertrophy and could justify the worse ventricular dimensions and worse FS% observed in our cohort as previously reported 33 . In a previous study including 1364 healthy participants, young Egyptian adults were found to have higher borderline, yet normal indexed LV mass as well as higher LVPW and IVST compared to international recommendations of the American Society of Echocardiography and the European Association of Cardiovascular Imaging, 38 pointing to the possibility of the effect of ethnic variations.…”

Section: Discussionsupporting

confidence: 78%

“…Other studies linked LV hypertrophy and dysfunction to undesirable effects mediated by excessive androgens, where androgens are known to have a trophic effect on cardiac myocytes 28 . This androgenic effect was suggested to be more likely if the diagnosis was delayed especially in populations where CAH screening is not yet implemented, compared to countries where CAH is part of neonatal screening 33 . Our patients started treatment at median age of 4 (1.33‐7) months.…”

Section: Discussionmentioning

confidence: 81%

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Effect of long‐term glucocorticoid therapy on cardiac functions in children with congenital adrenal hyperplasia

Amr

Mahmoud

Youssef

et al. 2020

Clinical Endocrinology

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BackgroundGlucocorticoids play an important role in cardiac physiology. Chronic exposure and higher doses may cause adverse effects on the myocardium, especially in young patients receiving long‐term therapy.ObjectiveTo assess cardiac function in children with congenital adrenal hyperplasia (CAH) and its relation to glucocorticoid dose and therapy duration.MethodsForty‐seven patients with CAH due to 21‐hydroxylase deficiency were compared to 47 controls. Patients were subdivided according to treatment duration (Group A: less than 6 years, Group B: more than 6 years). Mean daily glucocorticoid and cumulative glucocorticoid doses were calculated. Echocardiography was performed for patients and controls to evaluate cardiac functions, chamber dimensions and tissue Doppler valvular status.ResultsCompared to controls, patients had cardiac chamber hypertrophy reflected by higher M‐mode dimensions. Patients had lower fractional shortening, defective ventricular relaxation, lower average mitral and tricuspid e´/a´ ratios (e´ early diastolic, a´ late diastolic) as well as s´ (systolic) velocities, higher average mitral E/e ratio and higher left ventricle TDI Tei index (P < .05). Group B had lower average mitral e´/a´ and tricuspid s´ velocities, and higher average mitral E/e ratio (P < .05). Cumulative glucocorticoid dose significantly correlated with different echocardiographic parameters.ConclusionLong‐term glucocorticoid therapy even within the recommended therapeutic range adversely affects cardiac functions in children with 21‐hydroxylase deficiency.

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Section: Discussionsupporting

confidence: 78%

Section: Discussionmentioning

confidence: 81%

Effect of long‐term glucocorticoid therapy on cardiac functions in children with congenital adrenal hyperplasia

Amr

Mahmoud

Youssef

et al. 2020

Clinical Endocrinology

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“…Conversely, normal LV mass was reported in a cohort of 20 classic CAH patients; however, no data on LV cavity size or functional data were provided and no comparison with a control group was made (56). Mooij et al (57) recently documented, in a cohort of 27 CAH patients (mean age 11.7 years), lower IVR and LV posterior wall thickness, and higher prevalence of incomplete right bundle branch block, compared to matched controls. Shorter exposure to excess androgens (due to neonatal screening allowing early diagnosis) and/or better control of the disease in this cohort have been proposed to explain differences from previous studies (57).…”

Section: Cardiac Morphology and Functionmentioning

confidence: 99%

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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“…There have been many studies on CAH that indicate an increased cardiometabolic risk, including insulin resistance (4,6,81,89,125,137,145,146,147,148,149,150), but very few indicating an increased frequency of established cardiovascular disease (129,151) or diabetes (including gestational diabetes) (81,103,151). Since most studies have been performed in children and adolescents and most of the adults in the CAH studies have been aged less than 50 years, this is to be expected because cardiovascular disease and diabetes usually develop later in life (64).…”

Section: Cardiovascular Disease and Diabetesmentioning

confidence: 99%

MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency

Nordenström

Falhammar

2019

European Journal of Endocrinology

108

119

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Non-classic congenital adrenal hyperplasia (NCAH) is a relatively common disorder regardless of ethnicity, but most cases are never diagnosed, especially in males. A baseline 17-hydroxyprogesterone measurement may be used for screening, but 17-hydroxyprogesterone measurement after ACTH stimulation is the gold standard. We advocate a CYP21A2 mutation analysis to verify the diagnosis, for genetic counselling and for better prognostic and treatment guidance. Most patients are diagnosed in adolescence and adult life with hirsutism, acne, a PCOS-like picture and fertility issues. Many men with NCAH never seek medical attention and escape diagnosis. Although treatment is somewhat controversial, an early diagnosis and start of treatment may have positive implications on growth and be relevant for preventing and ameliorating the symptoms and consequences of androgen excess that develop over time, including fertility issues. Long-term treatment with glucocorticoids will improve the androgen symptoms but may result in long-term complications, such as obesity, insulin resistance, hypertension, osteoporosis and fractures. The glucocorticoid doses should be kept low. However, complications seen in NCAH, assumed to be caused by the glucocorticoid treatment, may also be associated with long-term androgen exposure. Oral contraceptive pills are a common treatment option for young females with NCAH. Regular clinical monitoring to improve the clinical outcome is recommended. It is important to acknowledge that glucocorticoid treatment will lead to secondary cortisol insufficiency and the need for stress dosing. Studies focusing on the specific difficulties patients with NCAH face, both those with a late clinical diagnosis and those with a neonatal diagnosis obtained by screening, are warranted.

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Cardiac function in paediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency

Cited by 7 publications

References 43 publications

Effect of long‐term glucocorticoid therapy on cardiac functions in children with congenital adrenal hyperplasia

Effect of long‐term glucocorticoid therapy on cardiac functions in children with congenital adrenal hyperplasia

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

MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency

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