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Endocrine Abstracts (2019) 63 P880 | DOI: 10.1530/endoabs.63.P880

ECE2019 Poster Presentations Adrenal and Neuroendocrine Tumours 3 (70 abstracts)

Cardiovascular and metabolic risk factors in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Silvia Paredes 1 , Marta Alves 2 , Fábia Carvalho 3 , Maria Miguel Gomes 3 , Sofia Martins 3 , Olinda Marques 1 & Ana Antunes 3


1Serviço de Endocrinologia, Hospital de Braga, Braga, Portugal; 2Serviço de Pediatria, Hospital Da Senhora Da Oliveira – Guimarães, Guimarães, Portugal; 3Serviço de Pediatria, Hospital de Braga, Braga, Portugal.


Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is associated with an increased cardiometabolic risk in adult life. Nevertheless, data regarding pediatric age is scarce. We aimed to evaluate cardiometabolic risk factors in patients with CAH due to 21-hydroxylase deficiency in pediatric age.

Methods: We reviewed the clinical records of patients with CAH evaluated in a Pediatric Endocrinology Unit in a central hospital. Patients ≥6 years-old performed an oral glucose tolerance test (OGTT). A Homeostatic Model Assessment of Insulin Resistance (HOMA-IR) ≥3.5 or a Matsuda index <2.5 were considered as positive results regarding insulin resistance.

Results: We included 8 patients (5 females), with a mean age of 11.4±4.5 years-old. Four patients presented the salt wasting form and were diagnosed during the neonatal period. Three patients had the simple virilizing form and 1 patient the non-classic form. These patients were diagnosed during workup for precocious pubarche, with a mean age of 6.7±0.9 years-old. Currently, 2 patients are prepubertal, 3 pubertal and 3 postpubertal and they present a mean time of follow-up of 7.62±0.2 years (2–14). Six patients are treated with hydrocortisone (mean dose 11.41±1.8 mg/m2) and 5 patients are treated with fludrocortisone. Two patients were submitted to genital reconstructive surgery. Half of this sample is normoweighted, 1 has low weight, 1 weight excess and 2 obesity. All patients had systolic and diastolic blood pressure below the 90th percentile (for age, sex and stature). Mean cholesterol level, LDL-cholesterol, HDL-cholesterol, non-HDL cholesterol and triglycerides was 138±31.9, 72.71±24.2, 59.86±12.1, 78.43±26.7 e 55±14.4 mg/dl, respectively. One patient had elevated non-HDL cholesterol and 2 presented borderline LDL-cholesterol and HDL-cholesterol, respectively. Fasting mean glucose and median insulin was 77.14±4.3 mg/dl e 19 uUI/ml (9.6–27.3), respectively. Patients presented a median HOMA-IR of 3.81 (2.8–5.3) and 3 patients demonstrated insulin resistance. In the OGTT, none of the patients evidenced dysglicemia and the median Matsuda index was 8.96 (5.9–17.6).

Conclusion: In this study, 3 patients had weight excess/obesity and 3 evidenced insulin resistance. Globally, half of the patients presented at least one cardiometabolic risk factor. Despite the young age, these patients seem to present already different cardiovascular risk factors. Our results call attention to the necessity of take into account the cardiometabolic profile when evaluating patients with CAH. It is also fundamental to promote healthy life styles in order to reduce the prevalence of cardiovascular disease in adult life.

Volume 63

21st European Congress of Endocrinology

Lyon, France
18 May 2019 - 21 May 2019

European Society of Endocrinology 

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