Metabolic profile, cardiovascular risk factors and health-related quality of life in children, adolescents and young adults with congenital adrenal hyperplasia
-
Roopa Vijayan
,
Praveen V. Pavithran
Abstract
Background
The present study was designed to evaluate the metabolic profile, cardiovascular risk factors and quality of life in children with congenital adrenal hyperplasia (CAH) and compare it with age- and sex-matched controls.
Methods
Fifty-two patients aged 3–21 years with classic CAH due to 21-hydroxylase deficiency were included in the study. Metabolic profiling was done for 36 cases and compared with 28 healthy age- and sex-matched controls. Quality of life was assessed in all 52 children and their parents using a validated Pediatric Quality of Life Inventory (PedsQL) questionnaire and was compared with normative data from the same population.
Results
The median age was 12 years with 14 (27%) males and 38 (73%) females. Out of the total 52 patients, 35 (67%) had salt wasting and 17 (33%) had simple virilising CAH. The median height standard deviation score (SDS) of cases was similar to that of controls (−0.72 vs. −0.64, p = 0.57) and 81% of females had normal pubertal status indicating a good control of the disease. Weight SDS, body mass index (BMI) SDS, mean diastolic blood pressure and insulin resistance were significantly higher in cases when compared to controls (0.31 vs. −0.3; 0.96 vs. 0.17; 67.8 ± 10.49 vs. 61 ± 8.49 and 2.1 vs. 0.95, respectively). The quality of life was significantly reduced in all domains as per parents’ perspective, whereas the children reported reduced quality of social and school functioning. There was no significant correlation between quality of life and metabolic parameters.
Conclusions
Children with CAH despite a reasonably good control of the disease have a higher cardiovascular risk and reduced quality of life when compared to healthy controls.
Acknowledgements
The authors thank the Department of Biostatistics, Amrita Institute of Medical Sciences, Amrita Vishwa Vidyapeetham, Cochin, Kerala, India for supporting this work.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: Institutional Funding.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organisation(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
1. Maouche DE, Wrlt A, Merke DP. Congenital adrenal hyperplasia. Lancet 2017;390:2194–210.10.1016/S0140-6736(17)31431-9Suche in Google Scholar
2. Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2018;103:1–46.10.1210/jc.2018-01865Suche in Google Scholar PubMed PubMed Central
3. Reisch N, Arlt W, Krone N. Health problems in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res Pediatr 2011;76:73–85.10.1159/000327794Suche in Google Scholar PubMed
4. Rodrigues TM, Barra CB, Soares JL, Goulart EM, Matos AV, et al. Cardiovascular risk factors and increased carotid intima-media thickness in young patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Arch Endocrinol Metab 2015;59:541–7.10.1590/2359-3997000000119Suche in Google Scholar PubMed
5. Tamhane S, Rodriguez-Gutierrez R, Iqbal AM, Prokop LJ, Bancos I, et al. Cardiovascular and metabolic outcomes in congenital adrenal hyperplasia: a systematic review and meta-analysis. J Clin Endocrinol Metab 2018;103:4097–103.10.1210/jc.2018-01862Suche in Google Scholar PubMed
6. Bonfig W, Roehl FW, Riedl S, Dorr HG, Bettendorf M, et al. Blood pressure in a large cohort of children and adolescents with classic adrenal hyperplasia due to 21-hydroxylase deficiency. Am J Hypertens 2015;29:266–72.10.1093/ajh/hpv087Suche in Google Scholar PubMed
7. Falhammar H, Frisen L, Hirschberg AL, Norrby C, Almqvist C, et al. Increased cardiovascular and metabolic morbidity in patients with 21-hydroxylase deficiency: a Swedish population-based national cohort study. J Clin Endocrinol Metab 2015;100:3520–8.10.1210/JC.2015-2093Suche in Google Scholar PubMed
8. Han TS, Conway GS, Willis DS, Krone N, Rees DA, et al. United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE). Relationship between final height and health outcomes in adults with congenital adrenal hyperplasia: United Kingdom congenital adrenal hyperplasia adult study executive (CaHASE). J Clin Endocrinol Metab 2014;99:E1547–55.10.1210/jc.2014-1486Suche in Google Scholar PubMed
9. Finkielstain GP, Kim MS, Sinaii N, Nishitani M, Van Ryzin C, et al. Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2012;97:4429–38.10.1210/jc.2012-2102Suche in Google Scholar PubMed PubMed Central
10. Akyurek N, Atabek ME, Eklioglu BS, Alp H. Ambulatory blood pressure and subclinical cardiovascular disease in patients with congenital adrenal hyperplasia: a preliminary report. J Clin Res Pediatr Endocrinol 2015;7:13–8.10.4274/jcrpe.1658Suche in Google Scholar PubMed PubMed Central
11. Falhammar H, Frisén L, Norrby C, Hirschberg AL, Almqvist C, et al. Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 2014;99:E2715–21.10.1210/jc.2014-2957Suche in Google Scholar PubMed
12. Han TS, Krone N, Willis DS. Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE). Eur J Endocrinol 2013;168:887–9.10.1530/EJE-13-0128Suche in Google Scholar PubMed PubMed Central
13. Khadilkar VV, Yadav S, Agrawal K, Tamboli S, Banerjee M, et al. Revised IAP growth charts for height, weight and body mass index for 5 to 18-year-old Indian children. Indian Pediatr 2015;52:47–55.10.1007/s13312-015-0566-5Suche in Google Scholar PubMed
14. Khadilkar VV, Khadilkar AV. Revised Indian Academy of Pediatrics 2015 growth charts for height, weight and body mass index for 5–18-year-old Indian children. Indian J Endocr Metab 2015;19:470–6.10.4103/2230-8210.159028Suche in Google Scholar PubMed PubMed Central
15. World Health Organization. Child growth standards. Available at: https://www.who.int/childgrowth/standards/en.Suche in Google Scholar
16. Styne DM, Arslanian SA, Connor EL, Farooqi IS, Murad H, et al. Pediatric obesity – assessment, treatment, and prevention: an Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 2017;102:1–49.10.1210/jc.2016-2573Suche in Google Scholar PubMed PubMed Central
17. National High Blood Pressure Education Program Working Group on High Blood Pressure in Children and Adolescents. The fourth report on the diagnosis, evaluation, and treatment of high blood pressure in children and adolescents. Pediatrics 2004;114(Suppl 4th Report):555–76.10.1542/peds.114.S2.555Suche in Google Scholar
18. Daniels SR, Greer FR. Lipid screening and cardiovascular health in childhood. Pediatrics 2008;122:198–201.10.1542/peds.2008-1349Suche in Google Scholar PubMed
19. Varni JW, Seid M, Rode CA. The PedsQL: measurement model for the pediatric quality of life inventory. Med Care 1999;37:126–39.10.1097/00005650-199902000-00003Suche in Google Scholar PubMed
20. Raj M, Sudhakar A, Roy R, Champaneri B, Joy TM, et al. Health-related quality of life in Indian children: a community-based cross-sectional survey. Indian J Med Res 2017;145:521–9.Suche in Google Scholar
21. Falhammar H, Nystrom FH, Wedell A, Brismar K, Thoren M. Bone mineral density, bone markers, and fractures in adult males with congenital adrenal hyperplasia. Eur J Endocrinol 2013;168: 331–41.10.1530/EJE-12-0865Suche in Google Scholar PubMed
22. Subbarayan A, Dattani MT, Peters CJ, Hindmarsh PC. Cardiovascular risk factors in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clin Endocrinol 2014;80:471–7.10.1111/cen.12265Suche in Google Scholar PubMed PubMed Central
23. Rekha C, Paramaguru R, Sarojini V, Seenivasan. Study of physical functioning in children with congenital adrenal hyperplasia. Int J Sci Study 2017;5:77–83.Suche in Google Scholar
24. Mooij CF, Herwaarden AE, Sweep F, Roeleveld N, Korte CL, et al. Cardiovascular and metabolic risk in pediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency. J Pediatr Endocrinol Metab 2017;68:1–10.10.1515/jpem-2017-0068Suche in Google Scholar PubMed
25. Halper A, Hooke MC, Gonzalez-Bolanos MT, Vanderburg N, Tran T, et al. Health-related quality of life in children with congenital adrenal hyperplasia. Health Qual Life Outcomes 2017;15: 194–201.10.1186/s12955-017-0769-7Suche in Google Scholar PubMed PubMed Central
26. Gilban DL, Alves Junior PA, Beserra IC. Health related quality of life of children and adolescents with congenital adrenal hyperplasia in Brazil. Health Qual Life Outcomes 2014;12:107–16.10.1186/s12955-014-0107-2Suche in Google Scholar PubMed PubMed Central
27. Falhammar H, Nystrom HF, Thoren M. Quality of life, social situation, and sexual satisfaction in adult males with congenital adrenal hyperplasia. Endocrine 2014;47:299–307.10.1007/s12020-013-0161-2Suche in Google Scholar PubMed
©2019 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Mini Review
- Endocrine manifestations of PHACE syndrome
- Original Articles
- Quantitation of the arginine family amino acids in the blood of full-term infants perinatally in relation to their birth weight
- Effect of supplementation with omega-3 fatty acids on hypertriglyceridemia in pediatric patients with obesity
- Pediatric diabetes inpatient care: can medical staff knowledge be improved?
- Association of lipid profile and BMI Z-score in southern Iranian children and adolescents
- Arterial stiffness in children and adolescents with and without continuous insulin infusion
- Fasting during the holy month of Ramadan among older children and adolescents with type 1 diabetes in Kuwait
- Evaluation of the relationship between short-term glycemic control and netrin-1, a urinary proximal tubular injury marker in children with type 1 diabetes
- Incidence of diabetic ketoacidosis in newly diagnosed type 1 diabetes children in western Saudi Arabia: 11-year experience
- Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children
- Metabolic profile, cardiovascular risk factors and health-related quality of life in children, adolescents and young adults with congenital adrenal hyperplasia
- Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study
- Response to sapropterin hydrochloride (Kuvan®) in children with phenylketonuria (PKU): a clinical trial
- Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A in children: a single centre experience
- Benign thyroid nodules in pediatric patients: determining best practices for repeat ultrasound evaluations
- Letter to the Editor
- Thyroid function in males with fragile X syndrome
- Case Reports
- A case of a severe reaction following the use of bisphosphonates in a patient with osteogenesis imperfecta
- Cushing disease in a patient with nonbullous congenital ichthyosiform erythroderma: lessons in avoiding glucocorticoids in ichthyosis
- Contiguous gene deletion in a Chinese family with X-linked nephrogenic diabetes insipidus: challenges in early diagnosis and implications for affected families
Artikel in diesem Heft
- Frontmatter
- Mini Review
- Endocrine manifestations of PHACE syndrome
- Original Articles
- Quantitation of the arginine family amino acids in the blood of full-term infants perinatally in relation to their birth weight
- Effect of supplementation with omega-3 fatty acids on hypertriglyceridemia in pediatric patients with obesity
- Pediatric diabetes inpatient care: can medical staff knowledge be improved?
- Association of lipid profile and BMI Z-score in southern Iranian children and adolescents
- Arterial stiffness in children and adolescents with and without continuous insulin infusion
- Fasting during the holy month of Ramadan among older children and adolescents with type 1 diabetes in Kuwait
- Evaluation of the relationship between short-term glycemic control and netrin-1, a urinary proximal tubular injury marker in children with type 1 diabetes
- Incidence of diabetic ketoacidosis in newly diagnosed type 1 diabetes children in western Saudi Arabia: 11-year experience
- Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children
- Metabolic profile, cardiovascular risk factors and health-related quality of life in children, adolescents and young adults with congenital adrenal hyperplasia
- Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study
- Response to sapropterin hydrochloride (Kuvan®) in children with phenylketonuria (PKU): a clinical trial
- Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A in children: a single centre experience
- Benign thyroid nodules in pediatric patients: determining best practices for repeat ultrasound evaluations
- Letter to the Editor
- Thyroid function in males with fragile X syndrome
- Case Reports
- A case of a severe reaction following the use of bisphosphonates in a patient with osteogenesis imperfecta
- Cushing disease in a patient with nonbullous congenital ichthyosiform erythroderma: lessons in avoiding glucocorticoids in ichthyosis
- Contiguous gene deletion in a Chinese family with X-linked nephrogenic diabetes insipidus: challenges in early diagnosis and implications for affected families
