Health status of children aged 8-18 years with 21-hydroxylase deficiency in the United Kingdom: results of a multi-centre cohort study

2019 ◽  
Author(s):  
Irina-Alexandra Bacila ◽  
Sundus Mahdi ◽  
Carlo L Acerini ◽  
Ruth Krone ◽  
Leena Patel ◽  
...  
Keyword(s):  
Cohort Study ◽  
United Kingdom ◽  
Health Status ◽  
Hydroxylase Deficiency ◽  
The United Kingdom ◽  
21 Hydroxylase Deficiency

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<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 Genotype-Phenotype Correlation in 153 Adult Patients With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Analysis of the United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE) Cohort

2013 ◽  
Vol 98 (2) ◽  
pp. E346-E354 ◽  
Author(s):  
Nils Krone ◽  
Ian T. Rose ◽  
Debbie S. Willis ◽  
James Hodson ◽  
Sarah H. Wild ◽  
...  
Keyword(s):  
United Kingdom ◽  
Health Status ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Phenotype Correlation ◽  
Hydroxylase Deficiency ◽  
Adult Study ◽  
The United Kingdom ◽  
Genotype Phenotype Correlation ◽  
21 Hydroxylase Deficiency

Abstract Context: In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, a strong genotype-phenotype correlation exists in childhood. However, similar data in adults are lacking. Objective: The objective of the study was to test whether the severity of disease-causing CYP21A2 mutations influences the treatment and health status in adults with CAH. Research Design and Methods: We analyzed the genotype in correlation with treatment and health status in 153 adults with CAH from the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive cohort. Results: CYP21A2 mutations were distributed similarly to previously reported case series. In 7 patients a mutation was identified on only 1 allele. Novel mutations were detected on 1.7% of alleles (5 of 306). Rare mutations were found on 2.3% of alleles (7 of 306). For further analysis, patients were categorized into CYP21A2 mutation groups according to predicted residual enzyme function: null (n = 34), A (n = 42), B (n = 36), C (n = 34), and D (n = 7). Daily glucocorticoid dose was highest in group null and lowest in group C. Fludrocortisone was used more frequently in patients with more severe genotypes. Except for lower female height in group B, no statistically significant associations between genotype and clinical parameters were found. Androgens, blood pressure, lipids, blood glucose, and homeostasis model assessment of insulin resistance were not different between groups. Subjective health status was similarly impaired across groups. Conclusions: In adults with classic CAH and women with nonclassic CAH, there was a weak association between genotype and treatment, but health outcomes were not associated with genotype. The underrepresentation of males with nonclassic CAH may reflect that milder genotypes result in a milder condition that is neither diagnosed nor followed up in adulthood. Overall, our results suggest that the impaired health status of adults with CAH coming to medical attention is acquired rather than genetically determined and therefore could potentially be improved through modification of treatment.

Adolescent Police Stops, Self-Harm, and Attempted Suicide: Findings From the UK Millennium Cohort Study, 2012‒2019

2021 ◽  
pp. e1-e9
Author(s):  
Dylan B. Jackson ◽  
Alexander Testa ◽  
Rebecca L. Fix ◽  
Tamar Mendelson
Keyword(s):  
Cohort Study ◽  
United Kingdom ◽  
School Counselors ◽  
Attempted Suicide ◽  
Sociodemographic Factors ◽  
Millennium Cohort Study ◽  
The United Kingdom ◽  
Self Harm ◽  
Uk Millennium Cohort Study ◽  
The Uk

Objectives. To explore associations between police stops, self-harm, and attempted suicide among a large, representative sample of adolescents in the United Kingdom. Methods. Data were drawn from the 3 most recent sweeps of the UK Millennium Cohort Study (MCS), from 2012 to 2019. The MCS is an ongoing nationally representative contemporary birth cohort of children born in the United Kingdom between September 2000 and January 2002 (n = 10 345). Weights were used to account for sample design and multiple imputation for missing data. Results. Youths experiencing police stops by the age of 14 years (14.77%) reported significantly higher rates of self-harm (incidence rate ratio = 1.52; 95% confidence interval [CI] = 1.35, 1.69) at age 17 years and significantly higher odds of attempted suicide (odds ratio = 2.25; 95% CI = 1.84, 2.76) by age 17 years. These patterns were largely consistent across examined features of police stops and generally did not vary by sociodemographic factors. In addition, 17.73% to 40.18% of associations between police stops and outcomes were explained by mental distress. Conclusions. Police-initiated encounters are associated with youth self-harm and attempted suicide. Youths may benefit when school counselors or social workers provide mental health screenings and offer counseling care following these events. (Am J Public Health. Published online ahead of print September 23, 2021: e1–e9. https://doi.org/10.2105/AJPH.2021.306434 )

Higher Risk of Ischemic Stroke After an Intracerebral Hemorrhage Than in General Population: A Cohort Study From the United Kingdom

Stroke ◽  
2021 ◽  
Author(s):  
David Gaist ◽  
Antonio Gonzáléz-Pérez ◽  
Stine Munk Hald ◽  
Luis Alberto García Rodríguez
Keyword(s):  
Cohort Study ◽  
United Kingdom ◽  
Ischemic Stroke ◽  
General Population ◽  
Intracerebral Hemorrhage ◽  
The United Kingdom
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