scholarly journals 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)

2013 ◽  
Vol 168 (6) ◽  
pp. 887-893 ◽  
Author(s):  
Thang S Han ◽  
Nils Krone ◽  
Debbie S Willis ◽  
Gerard S Conway ◽  
Stefanie Hahner ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Insulin Resistance ◽  
Regression Analysis ◽  
Congenital Adrenal Hyperplasia ◽  
Model Assessment ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Glucocorticoid Treatment ◽  
21 Hydroxylase Deficiency

ContextQuality of life (QoL) has been variously reported as normal or impaired in adults with congenital adrenal hyperplasia (CAH). To explore the reasons for this discrepancy we investigated the relationship between QoL, glucocorticoid treatment and other health outcomes in CAH adults.MethodsCross-sectional analysis of 151 adults with 21-hydroxylase deficiency aged 18–69 years in whom QoL (assessed using the Short Form Health Survey), glucocorticoid regimen, anthropometric and metabolic measures were recorded. Relationships were examined between QoL, type of glucocorticoid (hydrocortisone, prednisolone and dexamethasone) and dose of glucocorticoid expressed as prednisolone dose equivalent (PreDEq). QoL was expressed as z-scores calculated from matched controls (14 430 subjects from UK population). Principal components analysis (PCA) was undertaken to identify clusters of associated clinical and biochemical features and the principal component (PC) scores used in regression analysis as predictor of QoL.ResultsQoL scores were associated with type of glucocorticoid treatment for vitality (P=0.002) and mental health (P=0.011), with higher z-scores indicating better QoL in patients on hydrocortisone monotherapy (P<0.05). QoL did not relate to PreDEq or mutation severity. PCA identified three PCs (PC1, disease control; PC2, adiposity and insulin resistance and PC3, blood pressure and mutations) that explained 61% of the variance in observed variables. Stepwise multiple regression analysis demonstrated that PC2, reflecting adiposity and insulin resistance (waist circumference, serum triglycerides, homeostasis model assessment of insulin resistance and HDL-cholesterol), related to QoL scores, specifically impaired physical functioning, bodily pain, general health, Physical Component Summary Score (P<0.001) and vitality (P=0.002).ConclusionsIncreased adiposity, insulin resistance and use of prednisolone or dexamethasone are associated with impaired QoL in adults with CAH. Intervention trials are required to establish whether choice of glucocorticoid treatment and/or weight loss can improve QoL in CAH adults.

scholarly journals Health Status of Children and Young Persons With Congenital Adrenal Hyperplasia in the United Kingdom: Results of a Multi-Center Cohort Study

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A717-A717
Author(s):  
Irina-Alexandra Bacila ◽  
Neil Lawrence ◽  
Sundus Mahdi ◽  
Sabah Alvi ◽  
Timothy Cheetham ◽  
...  
Keyword(s):  
Quality Of Life ◽  
United Kingdom ◽  
Health Status ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
The United Kingdom ◽  
Number Of Patients ◽  
21 Hydroxylase Deficiency

Abstract Introduction: The association between congenital adrenal hyperplasia (CAH) and increased morbidity and mortality in adult life has been well established, however, limited knowledge exists regarding the onset of co-morbidities during childhood. Objective: To establish the health status of children and young persons (CYP) with CAH in the United Kingdom. Methods: This cross-sectional multi-center study involved 14 tertiary endocrine units across the United Kingdom. We recruited 107 patients aged 8-18 years with 21-hydroxylase deficiency and 83 matched controls. We collected and analyzed demographic, clinical, and metabolic data, as well as psychological questionnaires (Strengths and Difficulties [SDQ], Paediatric Quality of Life [PedsQL]and Self-Image Profile [SIP]). Results: The majority of patients (62.2%) were diagnosed within the first month of life, most commonly presenting with ambiguous genitalia (32.7%) or salt losing crisis (25.2%). After diagnosis, 37.3% of patients required admission for adrenal crisis, 11.2% presenting three or more episodes. Of the female patients, 57.6% had undergone urogenital examination under anesthesia and 35.5% had genital surgery. Most CAH patients received glucocorticoid (GC) replacement therapy with hydrocortisone (HC) (94.3%) and the rest with prednisolone, with a mean for relative GC doses of 13.3 (±3.7) mg/m2 per day HC-equivalent. 76.6% of patients received treatment with fludrocortisone, with a mean dose of 105.0 (±50.2) µg/m2 per day. Comparing height-Standard Deviation Score (SDS), patients under 12 years were taller (p=0.011) and patients aged 12-18 years shorter (p=0.031) than controls. Bone age was advanced in patients, with a mean difference from the chronological age of 1.9 (±2.2) years. CAH patients were more frequently overweight (26.4%) or obese (22.6%) compared to controls (10.8% and 10.8% respectively, p&lt;0.001). Five patients had high blood pressure. A small number of patients had abnormal lipid profiles: raised total cholesterol (7%), low HDL (13%), raised LDL (4%) and triglycerides (15%). Insulin resistance as defined by HOMA-IR was found in 53.8% of patients with CAH, which was comparable to healthy controls (56.3%). 15.8% of patients had SDQ scores within the “high” and “very high” categories of concern. In the PedsQL questionnaires, ‘school functioning’ was the lowest scoring dimension with a median (IQR) of 70 (55 - 80), followed by ‘emotional functioning’ with a median score of 75 (65 - 85). The SIP scores were comparable to normative values, for all age and gender groups. Conclusion: Children with CAH have increased prevalence of growth and weight gain problems, metabolic co-morbidities, as well as reduced quality of life and mental wellbeing. There is a pressing need to optimize management and monitoring strategies in CYP with CAH order to improve long-term health outcomes.

scholarly journals Metabolic evaluation of young women with congenital adrenal hyperplasia

2011 ◽  
Vol 55 (8) ◽  
pp. 646-652 ◽  
Author(s):  
Gabrielle Sormanti Schnaider-Rezek ◽  
Sofia Helena Valente de Lemos-Marini ◽  
Maria Tereza Matias Baptista ◽  
Gil Guerra-Júnior ◽  
André Moreno Morcillo ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Waist Circumference ◽  
Congenital Adrenal Hyperplasia ◽  
Lipid Profile ◽  
Young Women ◽  
Adrenal Hyperplasia ◽  
Corticosteroid Dosage ◽  
Metabolic Evaluation ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

OBJECTIVE: To evaluate insulin resistance and lipid profile in women with congenital adrenal hyperplasia (CAH) caused by classical 21-hydroxylase deficiency (21OHD), and their association with body mass index (BMI) and corticosteroid dosage. SUBJECTS AND METHODS: We assessed BMI, waist circumference, current glucocorticoid dosage, glucose, insulin and lipid profile in eighteen young women (mean ± SD, 19.3 ± 3.0 years) with 21OHD CAH. RESULTS: BMI was normal in 12 patients, 5 of them were overweight, and 1 was obese. Waist circumference was high in 7 patients. Fasting insulin and HOMA-IR were elevated in seven and eight patients, respectively. Total cholesterol and triglycerides were high in only two patients, and HDL-cholesterol was low in four. Insulin resistance was not associated with BMI, waist circumference or glucocorticoid dose. CONCLUSIONS: Young women with 21OHD CAH had infrequent dyslipidemia, but had a higher prevalence of insulin resistance and central obesity, that were independent of BMI or corticosteroid dosage.

scholarly journals Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

2021 ◽  
Vol 12 ◽  
Author(s):  
Myrthe J. M. Verhees ◽  
Manon Engels ◽  
Paul N. Span ◽  
Fred C. G. J. Sweep ◽  
Antonius E. van Herwaarden ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Social Relationships ◽  
Psychological Health ◽  
Chronically Ill ◽  
Adrenal Hyperplasia ◽  
Treatment Control ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency ◽  
Domain Scores

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a disorder of adrenal steroid biosynthesis, leading to hypocortisolism, hypoaldosteronism, and hyperandrogenism. Impaired quality of life (QoL) has been demonstrated in women with CAH, but data on men with CAH are scarce. We hypothesized that disease severity and poor treatment control are inversely associated with QoL. In this study, 109 men (16-68 years) with 21OHD were included. The WHOQOL-BREF questionnaire was used to measure self-reported QoL domain scores on a 0-100 scale, where higher scores reflect better QoL. QoL domain scores were compared to published data on healthy and chronically ill reference populations from France, Germany, the Netherlands, and the United Kingdom. Differences in QoL scores among groups of disease severity and treatment control were tested within the study population. Overall, the men with CAH in this study appeared to rate their QoL as good. Median domain scores were 78.6 (IQR: 67.9-85.7) for physical health, 79.2 (IQR: 66.7-87.5) for psychological health, 75.0 (IQR: 58.3-83.3) for social relationships, and 81.3 (IQR: 71.9-90.6) for environment. In general, these scores were similar to WHOQOL-BREF domain scores in healthy references and higher compared to chronically ill reference populations. The domain scores did not differ among genotype groups, but patients with undertreatment or increased 17-hydroxyprogestrone concentrations scored higher on several QoL domains (p&lt;0.05). Patients treated with dexamethasone or prednisone scored higher on the physical health, psychological health, and social relationships domains, but not on the environmental domain. In conclusion, QoL domain scores appeared to be comparable to healthy reference populations and higher compared to patients with a chronic illness. QoL was not influenced by genotype, but undertreatment and use of dexamethasone or prednisone were associated with higher QoL.

Cardiovascular and metabolic risk in pediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency

2017 ◽  
Vol 30 (9) ◽  
Author(s):  
Christiaan F. Mooij ◽  
Antonius E. van Herwaarden ◽  
Fred C.G.J. Sweep ◽  
Nel Roeleveld ◽  
Chris L. de Korte ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Reference Values ◽  
Pediatric Patients ◽  
Standard Deviation Score ◽  
Metabolic Risk ◽  
Model Assessment ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency ◽  
Dxa Scans

AbstractBackground:The aim of the study was to evaluate the cardiovascular and metabolic risk profile in pediatric patients with congenital adrenal hyperplasia (CAH).Methods:A cross-sectional study was performed in 27 CAH patients (8–16 years). Blood samples were taken to evaluate circulating cardiovascular risk (CVR) markers. Insulin resistance (IR) was evaluated by homeostatic model assessment (HOMA)-IR. Blood pressure (BP) was evaluated by office BP measurements and 24-h ambulatory BP measurements (24-h ABPM). Dual energy X-ray absorptiometry (DXA) scans were performed in patients >12 years.Results:Body mass index (BMI) standard deviation score (SDS) was elevated (0.67), with seven patients being overweight and four obese. DXA scans showed percentage body fat SDS of 1.59. Office BP levels were higher than reference values. Twenty-four hour ABPM showed systolic hypertension (n=5), while 11 patients had a non-dipping BP profile. HOMA-IR was >75th percentile in 12 patients.Conclusions:CAH patients develop an unfavorable CVR profile already in childhood with increased BMI, increased fat mass, elevated BP levels, a non-dipping BP profile and IR compared to population reference values.

scholarly journals Does an altered leptin axis play a role in obesity among children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency?

2009 ◽  
Vol 160 (2) ◽  
pp. 239-247 ◽  
Author(s):  
Thomas M K Völkl ◽  
Diemud Simm ◽  
Antje Körner ◽  
Wolfgang Rascher ◽  
Wieland Kiess ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Children And Adolescents ◽  
Serum Levels ◽  
Overweight And Obesity ◽  
Matched Pairs ◽  
Model Assessment ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Molar Ratios ◽  
21 Hydroxylase Deficiency

ObjectiveCongenital adrenal hyperplasia (CAH) patients are at a higher risk to develop obesity. The role of leptin in CAH is still controversial. Our study aimed to evaluate serum levels of leptin, the soluble leptin receptor (sOB-R), and the sOB-R: leptin molar ratios in a cohort of CAH children and adolescents, and their associations with clinical and metabolic parameters.MethodsWe studied 51 CAH patients, aged 5.6–19.6 years (median 11.8, n=30 females) cross-sectionally. All patients had genetically proven CAH and received standard steroid substitution therapy. Blood specimens were taken after overnight fasting between 0800 and 1000 h. For the analyses of leptin and sOB-R, matched pairs were built with healthy Caucasian patients for sex, Tanner stage (TS), chronologic age (CA), and body mass index (BMI).ResultsBMI and SDS were significantly elevated compared with the reference population. Leptin levels were not different between matched pairs, whereas sOB-R levels were significantly lower in CAH. Consequently, the sOB-R: leptin molar ratios were significantly decreased in CAH. Correlation analyses in CAH patients revealed significant relationship between leptin and CA, TS, BMI, and homeostasis model assessment of insulin resistance. Similar results were obtained for the matched control group. For sOB-R, we found no significant correlation for CA, TS, or BMI in CAH, but we did in the controls. There were significant correlations for androgens within the CAH group. Additional analyses revealed no correlation with steroid medication or metabolic control.ConclusionsOur data show that an altered leptin axis with normal serum leptin concentrations but decreased sOB-R serum levels may contribute to the increased risk of overweight and obesity in CAH.

scholarly journals Late consequences of classic congenital adrenal hyperplasia and its long-term poor control in men (case report and literature review)

2020 ◽  
Vol 16 (4) ◽  
pp. 90-102 ◽  
Author(s):  
Boris M. Shifman ◽  
Larisa K. Dzeranova ◽  
Ekaterina A. Pigarova ◽  
Anatoly N. Tiulpakov ◽  
Natalia S. Fedorova
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Autosomal Recessive Disorder ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Glucocorticoid Treatment ◽  
Salt Wasting ◽  
Adult Age ◽  
Chronic Disorder ◽  
17 Hydroxyprogesterone ◽  
21 Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disorder of the adrenal cortex characterized by impairment of cortisol biosynthesis (with possible impairment of aldosterone biosynthesis) and excessive pituitary ACTH release, which promotes oversecretion of intact pathways products: 17-hydroxyprogesterone (17OHP), progesterone, and adrenal androgens androstendione and testosterone. 21-hydroxylase deficiency, being the most common cause of congenital adrenal hyperplasia is a chronic disorder, that requires life-long glucocorticoid treatment, that aims both to replace cortisol and prevent ACTH-driven androgen excess. Nevertheless, reaching the optimal glucocorticoid dose is challenging because currently available glucocorticoid formulations cannot replicate the physiological circadian rhythm of cortisol secretion. The difficulties in striking the balance between uneffective normalizing of ACTH-level and excess glucocorticoid exposure leads to different abnormalities, that starts to develop at first months of life and progress, frequently gaining especial clinical meaning in adult age. In the present clinical case we introduce 35 years old male patient with salt-wasting form of 21-hydroxylase deficiency, which had either complications considered to progress due to insufficient glucocorticoid therapy, and some metabolic abnormalities, associated with supraphysiological doses of glucocorticoids.

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