RESUMO
International incidence rates (IRs) and trends of childhood type 1 diabetes (T1D) vary. Recent data from Ireland and other high incidence countries suggested a stabilisation in IRs of T1D in children aged under 15 years. Our primary objective was to report the IR of T1D in children in Ireland from 2019 to 2021 and evaluate if age, sex and season of diagnosis had changed. Incident cases of T1D in those aged under 15 years were identified prospectively by clinicians nationally and reported to the Irish Childhood Diabetes National Register (ICDNR). Following case verification, capture-recapture methodology was applied, and IRs calculated. Numbers of children including age, sex and season of diagnosis per year were evaluated. There were 1027 cases, 542 males (53%). The direct standardised incidence rates (SIRs) increased by 21% overall and were 31.1, 32.2 and 37.6/100,000/year, respectively, with no significant sex difference. The highest IRs were in the 10-14-year category until 2021, then changed to the 5-9-year category (40% of cases). Whilst autumn and winter remain dominant diagnostic seasons, seasonality differed in 2021 with a greater number presenting in spring. CONCLUSION: The incidence of childhood T1D in Ireland is increasing, observed prior to the COVID-19 pandemic, and shifting to an earlier age at diagnosis for the first time. The pattern of seasonality also appears to have changed. This may reflect an increased severity of diabetes with important implications for healthcare providers. WHAT IS KNOWN: ⢠Ireland has a very high incidence of T1D in childhood, which had stabilised following a rapid rise, similar to other high incidence countries. ⢠The incidence rate is consistently highest in older children (10-14 years). WHAT IS NEW: ⢠Irish IR is no longer stable and has increased again, with the highest incidence occurring in the younger 5-9 age category for the first time. ⢠The seasonality of diagnosis has changed during the COVID-19 pandemic years of 2020-2021.
Assuntos
COVID-19 , Diabetes Mellitus Tipo 1 , Criança , Humanos , Masculino , Feminino , Adolescente , Incidência , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/epidemiologia , Pandemias , Irlanda/epidemiologia , COVID-19/epidemiologiaRESUMO
INTRODUCTION: Adolescents with Type 1 diabetes are a cohort whose self-management of their diabetes care often declines during adolescence which can lead to adverse health outcomes. Research indicates that providers find it challenging to engage adolescents in communication exchanges during triadic encounters in diabetes clinics. Our study aimed to explore adolescents, parents, and providers' experiences of clinic encounters. METHODS: A qualitative study was conducted with a convenience sample of 13 adolescents with Type 1 diabetes (aged 11-17), 14 parents, and seven providers. Participants were recruited from two outpatient diabetes clinics in two urban children's hospitals, Ireland. Data were obtained using a combination of interviews and focus groups. Data were analysed thematically. RESULTS: Adolescents and their parents appeared to hold both positive and negative experiences of diabetes clinic encounters. Providers reported challenges associated with engaging adolescents in communication exchanges. The structure, focus and style of clinic encounters created barriers that potentially led to suboptimal adolescent participation and impaired provider-adolescent communication during clinic visits. CONCLUSIONS: The findings provide insights into the challenges associated with adolescents' engagement in communication encounters in diabetes clinics. Healthcare providers could encourage adolescents to be more actively involved in their diabetes management, by taking an adolescent-centred approach and creating a nonjudgemental milieu. Focusing on adolescent's agenda could lead to more meaningful and relevant discussions between providers and adolescents and ensure more tailored education in the time available. Adolescence is a risky period for nonadherence and adverse health complications; therefore, it is critical that providers make every contact count in diabetes clinic encounters. PATIENT OR PUBLIC INVOLVEMENT: The study's design and delivery were guided by two advisory groups, comprising (1) five adolescents living with Type 1 diabetes (T1D) and (2) five parents of an adolescent with T1D.
RESUMO
AIMS/HYPOTHESIS: Against a background of a near-universally increasing incidence of childhood type 1 diabetes, recent reports from some countries suggest a slowing in this increase. Occasional reports also describe cyclical variations in incidence, with periodicities of between 4 and 6 years. METHODS: Age/sex-standardised incidence rates for the 0- to 14-year-old age group are reported for 26 European centres (representing 22 countries) that have registered newly diagnosed individuals in geographically defined regions for up to 25 years during the period 1989-2013. Poisson regression was used to estimate rates of increase and test for cyclical patterns. Joinpoint regression software was used to fit segmented log-linear relationships to incidence trends. RESULTS: Significant increases in incidence were noted in all but two small centres, with a maximum rate of increase of 6.6% per annum in a Polish centre. Several centres in high-incidence countries showed reducing rates of increase in more recent years. Despite this, a pooled analysis across all centres revealed a 3.4% (95% CI 2.8%, 3.9%) per annum increase in incidence rate, although there was some suggestion of a reduced rate of increase in the 2004-2008 period. Rates of increase were similar in boys and girls in the 0- to 4-year-old age group (3.7% and 3.7% per annum, respectively) and in the 5- to 9-year-old age group (3.4% and 3.7% per annum, respectively), but were higher in boys than girls in the 10- to 14-year-old age group (3.3% and 2.6% per annum, respectively). Significant 4 year periodicity was detected in four centres, with three centres showing that the most recent peak in fitted rates occurred in 2012. CONCLUSIONS/INTERPRETATION: Despite reductions in the rate of increase in some high-risk countries, the pooled estimate across centres continues to show a 3.4% increase per annum in incidence rate, suggesting a doubling in incidence rate within approximately 20 years in Europe. Although four centres showed support for a cyclical pattern of incidence with a 4 year periodicity, no plausible explanation for this can be given.
Assuntos
Diabetes Mellitus Tipo 1/epidemiologia , Adolescente , Criança , Pré-Escolar , Europa (Continente)/epidemiologia , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Estudos Prospectivos , Sistema de RegistrosRESUMO
Children can present with polydipsia and/or polyuria for a number of reasons. We will discuss polydipsia and polyuria, how a child may present and how to investigate further in order to establish the cause. We highlight the important areas to cover in the history and examination of a child presenting with polydipsia and/or polyuria.
Assuntos
Polidipsia/diagnóstico , Poliúria/diagnóstico , Criança , Desidratação/diagnóstico , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Humanos , Anamnese , Exame Físico , Polidipsia/etiologia , Polidipsia/terapia , Poliúria/etiologia , Poliúria/terapiaRESUMO
OBJECTIVE: Loss-of-function mutations in IGSF1 result in X-linked central congenital hypothyroidism (CeCH), occurring in isolation or associated with additional pituitary hormone deficits. Intrafamilial penetrance is highly variable and a minority of heterozygous females are also affected. We identified and characterized a novel IGSF1 mutation and investigated its associated phenotypes in a large Irish kindred. DESIGN, PATIENTS AND MEASUREMENTS: A novel hemizygous IGSF1 mutation was identified by direct sequencing in two brothers with CeCH, and its functional consequences were characterized in vitro. Genotype-phenotype correlations were investigated in the wider kindred. RESULTS: The mutant IGSF1 protein (c.2318T > C, p.L773P) exhibited decreased plasma membrane expression in vitro due to impaired trafficking from the endoplasmic reticulum. Ten hemizygous males and 11 heterozygous females exhibited characteristic endocrine deficits. Ireland operates a TSH-based CH screening programme, which does not detect CeCH; therefore, genetic ascertainment preceded biochemical diagnosis of moderate CH in five of seven boys as well as their 75-year-old grandfather. Clinical features potentially attributable to hypothyroidism were variable; normal free T3 (FT3) and low/low normal reverse T3 (rT3) concentrations suggested that preferential deiodination of FT4 to FT3 may help maintain tissue euthyroidism in some individuals. However, neonatal jaundice, delayed speech or growth, and obesity were observed in seven subjects in whom diagnosis was delayed. CONCLUSIONS: As observed with other IGSF1 mutations, p.L773P results in variably penetrant IGSF1 deficiency syndrome. Our observations emphasize the need for multi-generation genetic ascertainment in affected families, especially where TSH-based CH screening programmes may fail to detect CeCH at birth.
Assuntos
Hipotireoidismo Congênito/genética , Imunoglobulinas/genética , Proteínas de Membrana/genética , Mutação/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Hipotireoidismo Congênito/sangue , Hipotireoidismo Congênito/diagnóstico , Feminino , Humanos , Lactente , Irlanda , Masculino , Pessoa de Meia-Idade , Tiroxina/sangue , Tri-Iodotironina/sangue , Adulto JovemRESUMO
OBJECTIVE: The reason for center differences in metabolic control of childhood diabetes is still unknown. We sought to determine to what extent the targets, expectations, and goals that diabetes care professionals have for their patients is a determinant of center differences in metabolic outcomes. RESEARCH DESIGN AND METHODS: Children, under the age of 11 with type 1 diabetes and their parents treated at the study centers participated. Clinical, medical, and demographic data were obtained, along with blood sample for centralized assay. Parents and all members of the diabetes care team completed questionnaires on treatment targets for hemoglobin A1c (HbA1c) and recommended frequency of blood glucose monitoring. RESULTS: Totally 1113 (53% male) children (mean age 8.0 ± 2.1 years) from 18 centers in 17 countries, along with parents and 113 health-care professionals, participated. There were substantial differences in mean HbA1c between centers ranging from 7.3 ± 0.8% (53 mmol/mol ± 8.7) to 8.9 ± 1.1% (74 mmol/mol ± 12.0). Centers with lower mean HbA1c had (1) parents who reported lower targets for their children, (2) health-care professionals that reported lower targets and more frequent testing, and (3) teams with less disagreement about recommended targets. Multiple regression analysis indicated that teams reporting higher HbA1c targets and more target disagreement had parents reporting higher treatment targets. This seemed to partially account for center differences in Hb1Ac. CONCLUSIONS: The diabetes care teams' cohesiveness and perspectives on treatment targets, expectations, and recommendations have an influence on parental targets, contributing to the differences in pediatric diabetes center outcomes.
Assuntos
Instituições de Assistência Ambulatorial/normas , Atitude do Pessoal de Saúde , Diabetes Mellitus Tipo 1/terapia , Hemoglobinas Glicadas/metabolismo , Criança , Diabetes Mellitus Tipo 1/sangue , Feminino , Humanos , Masculino , Pais/psicologia , Pediatria/normasRESUMO
The Irish Childhood Diabetes National Register (ICDNR) was established in 2008 to define accurately the incidence and monitor the epidemiology of type 1 diabetes (T1D) in the Irish population. Here, we report data from the first 6 years of the National Register and compare with previous national data. Prospective national incident data regarding T1D in those under 15 years resident in Ireland were collected from 2008 to 2013 and national incidence rates (IRs) calculated. Ascertainment completeness was assessed using capture-recapture methodology. The period identified 1566 new cases of T1D, ascertainment reached 96.8 % in 2013. The standardised incidence rate was 27.5 in 2008 stabilising at 28.7 and 28.8 cases /100,000/year in 2012 and 2013. There was no evidence that the incidence changed significantly in the 6-year period either overall or for each age group and gender. There was evidence of a difference in the incidence of T1D across the age groups with the overall incidence highest in the 10-14 year age category. A strong seasonal association was demonstrated. CONCLUSIONS: This study confirms Ireland as a high-incidence country for type 1 diabetes whilst demonstrating that the previous marked increase in IR from 16.3 cases/100,000/year in 1997 has not continued. Ongoing monitoring through the robust mechanism of the ICDNR is required to clarify whether this is a fluctuation or if the incidence of T1D diabetes has stopped rising in our population. Alternatively, this apparent stabilisation may reflect a shift to a later age at diagnosis. "What is known :" ⢠The incidence of Type 1 diabetes (T1D) is increasing in most populations worldwide although in certain high-incidence populations, it may be stabilising ⢠There was a marked increase in T1D in Ireland between 1997 and 2008 ⢠T1D incidence increases with affluence "What is New:" ⢠The high incidence of T1D in Ireland has been confirmed at 28.8 cases/100,000/year in 2013 and has been effectively stable in the period 2008-2013 ⢠Incidence is highest in Irish 10-14 year olds ⢠Changes in incidence possibly reflecting life style and economic climate ⢠Marked seasonality of diagnosis confirmed.
Assuntos
Diabetes Mellitus Tipo 1/epidemiologia , Adolescente , Distribuição por Idade , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Irlanda/epidemiologia , Masculino , Estudos Prospectivos , Sistema de Registros , Fatores de TempoRESUMO
AIM: To describe bone mineral density at the lumbar spine in a group of girls with Turner's syndrome and determine its relation to pubertal development. METHODS: Girls with Turner's syndrome aged over 12 years were invited to participate in the study. All participants underwent auxology, pubertal assessment and laboratory evaluation. Bone mineral density was estimated by dual-energy X-ray absorptiometry. Bone mineral apparent density was then calculated, and the results were compared with age-matched Dutch reference data. RESULTS: We studied 32 girls with Turner's syndrome, mean (SD) [range] age 16.7 (2.6) [12.4-20.2] years and height 148.3 (9.0) [126-159.2] cm. Bone mineral apparent density lumbar spine values were -0.87 SD, significantly lower than in the reference population (p <0.001). Bone mineral apparent density values were positively and significantly associated with breast Tanner stages and postmenarcheal status, but not spontaneous puberty. However, no significant association was found between bone mineral apparent density and karyotype, growth hormone or timing of oestrogen therapy. CONCLUSION: Girls with Turner's syndrome have lower bone mineral apparent density values at the lumbar spine, even after correcting for size, compared with an age- and sex-matched general population. Pubertal development has significant impact on bone mineral apparent density in girls with Turner's syndrome.
Assuntos
Densidade Óssea , Síndrome de Turner/fisiopatologia , Adolescente , Desenvolvimento do Adolescente , Criança , Feminino , Humanos , Puberdade , Análise de Regressão , Adulto JovemRESUMO
Aim: Retinopathy of prematurity is a significant global cause of childhood blindness. This study aims to identify serum biomarkers that are associated with the development of ROP. Methods: A systematic review and meta-analysis was conducted using PRISMA guidelines. Three databases were searched (Pubmed, Scopus and Web of Science) from 2003 to March 2023. Only studies investigating serum biomarker levels in preterm infants (<37 weeks gestation) were included. Results: Meta-analysis suggests that low serum IGF-1 levels have a strong association with the development of ROP [SMD (95% CI) of -.46 [-.63, -.30], p < .001]. Meta-analysis suggests that higher serum glucose levels were associated with the development of ROP [SMD (95% CI) of 1.25 [.94, 1.55], p < .001]. Meta-analysis suggests that thrombocytopenia is associated with the development of ROP [SMD (95% CI) of -.62 [-.86, -.37], p < .001]. Conclusion: Low levels of serum IGF-1, high levels of serum glucose and thrombocytopenia all appear to have the strongest association with the development of ROP out of the 63 biomarkers investigated in this review. These associations highlight their potential use as diagnostic biomarkers in ROP, though further research is needed to establish the exact relationship between these biomarkers and disease pathogenesis.
RESUMO
Low bone mineral density (BMD) in patients with Turner syndrome (TS) has been reported in a considerable number of previous studies. Cortical and trabecular bone have been involved. Osteoporosis can be overdiagnosed in TS patients with a short stature unless BMD measurements are adjusted for body size. Optimization of bone health in girls with TS requires a healthy active lifestyle, including adequate calcium, vitamin D, and hormonal replacement therapy, according to consensus guidelines.
Assuntos
Densidade Óssea , Síndrome de Turner/metabolismo , Adolescente , Densidade Óssea/efeitos dos fármacos , Criança , Exercício Físico , Feminino , Fraturas Ósseas/etiologia , Hormônio do Crescimento Humano/farmacologia , Humanos , Puberdade/fisiologia , Receptores de Calcitriol/genéticaRESUMO
AIMS: To investigate adolescents' communication with healthcare providers (HCPs) and co- design a question prompt list as one part of an intervention to increase patient participation and communication at diabetes clinic visits. METHODS: Using an adolescent-led co-design approach we conducted interviews and focus groups with adolescents, parents, and healthcare providers (HCPs) and held workshops with both a Youth Advisory Group (YAG) and a Parent Advisory Group (PAG). RESULTS: Adolescents and parents identified challenges categorised into four themes: negative experience communicating with HCPs, lacking patient education leading to disinterest, low self-confidence out of fear of being wrong and forgetting to ask question(s). Adolescents identified that a Question Prompt List (QPL) could help them to ask questions, be more confident and participate more. The design process was an iterative development that engaged all stakeholders. Parents and HCPs assumed adolescents had greater knowledge about diabetes than they had in reality. CONCLUSIONS: Divergence in perceptions between adults and adolescents regarding patient knowledge of diabetes care demonstrates the importance of encouraging adolescents to ask the questions that matter to them. The QPL could be a useful means of supporting adolescents to actively participate in clinic encounters with healthcare providers.
Assuntos
Comunicação , Diabetes Mellitus , Adolescente , Adulto , Assistência Ambulatorial , Instituições de Assistência Ambulatorial , Criança , Humanos , Pais , Participação do PacienteRESUMO
BACKGROUND: Research on long-term health conditions indicates that adolescents are not actively involved during their medical visits. Active involvement is essential because this can help adolescents learn how to self-manage their treatment plan. OBJECTIVE: To co-design a video intervention to improve youth question-asking and provider education during paediatric diabetes visits. PATIENT INVOLVEMENT: A participatory-led approach was used to co-design the video, through a combination of interviews/ focus groups and the establishment of a Youth Advisory Group. METHODS: First, focus groups and one-to-one interviews were held with adolescents, parents and healthcare providers. Second, two workshops were held with the Youth Advisory Group, Parent Advisory Group and stakeholders on script design. Finally, an iterative development of the video took place between the research team, videographer, both advisory groups and the steering committee. There were three rounds of feedback before the video was finalised. RESULTS: Adolescents' content preferences included: 1) message of empowerment; 2) managing your diabetes so you can get on with the fun stuff in life; 3) Promoting independence; 4) Reasons for not speaking at clinic visits and reassurance; 5) Becoming comfortable to speak and ask questions at clinic visits; 6) Practical advice on how to ask questions. Formatting preferences included that the video should be short, divided into segments, with adolescents with diabetes acting in it, and speaking directly to the camera. DISCUSSION: Identifying and reflecting adolescents' needs and preferences for engagement with healthcare providers was critical in the development process. Adolescents' participation in the co-design process was pivotal to the acceptability of the intervention for adolescents with diabetes. PRACTICAL VALUE: The intervention may increase adolescents' participation in communication and interactions with healthcare providers, which may help them to be more active in the self-management of their condition.
Assuntos
Comunicação , Diabetes Mellitus Tipo 1 , Adolescente , Assistência Ambulatorial , Criança , Diabetes Mellitus Tipo 1/terapia , Humanos , Pais , Participação do PacienteRESUMO
SCOPE: Chronic inflammation and hypoadiponectinemia are characteristics of obesity-induced insulin resistance (IR). The effect of an anti-inflammatory nutrition supplement (AINS) on IR and adiponectin biology in overweight adolescents was investigated. The secondary objective was to examine the extent to which individuals' biomarker profiles, derived from baseline phenotypes, predicted response or not to the AINS. Additionally, the impact of DNA methylation on intervention efficacy was assessed. METHODS AND RESULTS: Seventy overweight adolescents (13-18 years) were recruited to this randomized controlled crossover trial. Participants received an AINS (long chain n-3 PUFA, vitamin C, α-tocopherol, green tea extract, and lycopene) and placebo for 8 weeks each. Homeostatic model assessment (HOMA)-IR, adiponectin, inflammatory profiles, and DNA methylation were assessed. HOMA-IR was unchanged in the total cohort. High-molecular-weight (HMW) adiponectin was maintained following the AINS while it decreased over time following the placebo intervention. HOMA-IR decreased in 40% of subjects (responders) following the AINS. Responders' pretreatment phenotype was characterized by higher HOMA-IR, total and LDL cholesterol, but similar BMI in comparison to nonresponders. HMW adiponectin response to the AINS was associated with bidirectional modulation of adipogenic gene methylation. CONCLUSION: The AINS modulated adiponectin biology, an early predictor of type 2 diabetes risk, was associated with bidirectional modulation of adipogenic gene methylation in weight-stable overweight adolescents. HOMA-IR decreased in a sub-cohort of adolescents with an adverse metabolic phenotype. Thus, suggesting that more stratified or personalized nutrition approaches may enhance efficacy of dietary interventions.
Assuntos
Adiponectina/sangue , Inflamação/dietoterapia , Resistência à Insulina , Obesidade/complicações , Adipogenia/genética , Adolescente , Biomarcadores/sangue , Metilação de DNA , Suplementos Nutricionais , Feminino , Humanos , Lipídeos/sangue , Masculino , Obesidade/dietoterapia , Obesidade Infantil , Resultado do TratamentoRESUMO
BACKGROUND: Age at diagnosis of girls with Turner syndrome (TS) is an important indicator of successful management. We determined the age, initial clinical presentation, and chromosomal abnormalities in patients with TS. METHODS: This was a retrospective evaluation of the clinical and laboratory records of patients with TS. RESULTS: Sixty-five patients with TS were identified; 40 (62%) were diagnosed after age 5 years. The main presenting features were short stature, delayed puberty, dysmorphic features, and neonatal lymphoedema. Chromosomal analysis of this cohort showed that 31 patients demonstrated mosaicism, while a 45,X karyotype was observed in 19. The remaining patients had variable abnormalities including deletion, translocation, isochromosome, and ring chromosome. Y-chromosome material was found in four cases. CONCLUSIONS: Most patients with TS were diagnosed after age 5 years, had a varied clinical presentation, and had a wide range of chromosomal abnormalities.
Assuntos
Mosaicismo , Síndrome de Turner/diagnóstico , Adolescente , Criança , Pré-Escolar , Cromossomos Humanos X , Feminino , Humanos , Lactente , Recém-Nascido , Irlanda , Cariotipagem , Fenótipo , Diagnóstico Pré-Natal , Estudos Retrospectivos , Avaliação de Sintomas , Translocação Genética , Síndrome de Turner/genéticaRESUMO
The aim was to study the monthly rhythm of birth and clinical onset in 303 children with type 1 diabetes mellitus (DM1) aged 0-15 years (156 males, 147 females) born between 1980 and 1996 in Ireland and compare to 951,717 infants born in the general population during the same period. Analysis was performed using the cosine fit for rhythm and t-test between the seasons of the year. Whereas the males showed a rhythmic pattern of month of birth, peaking in the summer (p < 0.05), similar to that in the general population, the females showed no seasonal differences in either month of birth or month of onset. A mirror image pattern, nadir in spring and summer (p < 0.01), was observed in month of clinical onset, also only in males. If we assume a viral infectious etiology of DMI, females seem to be less susceptible than males to the environmental infectious influences.
Assuntos
Diabetes Mellitus Tipo 1/epidemiologia , Estações do Ano , Caracteres Sexuais , Adolescente , Adulto , Idade de Início , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Irlanda/epidemiologia , Masculino , Fatores de Risco , Distribuição por SexoRESUMO
OBJECTIVE: To evaluate health-related quality of life (HRQoL) in a group of girls with Turner syndrome (TS) and determine its relation to key features of the condition. METHODS: HRQoL was assessed with the short-form health survey (SF-36). RESULTS: Of the 35 girls, 32 [mean (SD) age: 16.7 (2.61) years], of whom 28 (87.6%) received growth hormone therapy, agreed to participitate. Compared with the general population, girls with TS have lower scores in the physical functioning domain of HRQoL. However, they have similar HRQoL as their peers in other dimensions. There was a negative and significant association between the postmenarchal status and the social functioning domain of HRQoL. Age at growth hormone treatment initiation has a negative impact on the general health domain. Age at growth hormone initiation, bone mineral apparent density (BMAD) and the prevalence of skeletal anomalies negatively influence the vitality domain. HRQoL scores in the physical function domain were negatively associated with BMAD and positively associated with height. CONCLUSION: Compared with the general population, Irish girls with TS have similar HRQoL in most of domains as their peers. Postmenarchal status, height, age at growth hormone initiation, BMAD and skeletal anomalies showed significant association with at least one domain of HRQOL.
Assuntos
Qualidade de Vida , Síndrome de Turner/fisiopatologia , Adolescente , Aberrações Cromossômicas , Feminino , Humanos , Irlanda , Cariotipagem , Síndrome de Turner/genéticaRESUMO
BACKGROUND: Classical congenital adrenal hyperplasia (CAH) is characterized by a defect in cortisol and aldosterone secretion, adrenal hyperandrogenism, impaired adrenal medullary function and insulin insensitivity. The latter along with the increased tendency towards obesity raises questions whether other cardiovascular risk factors are altered in CAH. OBJECTIVE: To evaluate 24-h ambulatory blood pressure and obesity in patients with salt-wasting 21-hydroxylase deficiency diagnosed in the neonatal period and treated with hydrocortisone and 9alpha-fludrocortisone thereafter. METHODS: Thirty-eight children (15 males) aged 11.2 years (range 6.1-18.2 years) underwent 24-h ambulatory blood pressure monitoring in the hospital setting. Standard anthropometric measures of height, weight and skinfold thickness were undertaken and body mass index (BMI) derived. All data were expressed as standard deviation scores (SDS) using the UK Growth Reference data. RESULTS: Mean daytime systolic blood pressure SDS (1.8, SD 1.1) was significantly higher than the reference population (P < 0.001), and 58% of patients (67% males; 52% females) had systolic hypertension. Mean daytime diastolic blood pressure SDS (0.8, SD 0.8) was also elevated and 24% (13% males; 37% females) had diastolic hypertension. Eighty-four per cent had absence of the physiological nocturnal dip in systolic blood pressure. Height SDS was similar to the reference population but BMI SDS was higher (P < 0.001). BMI SDS was related to systolic blood pressure SDS (r = 0.34; P = 0.03) and the effect was most marked in females where it was related to measures of truncal fat (r = 0.82; P = 0.002). CONCLUSIONS: Children with salt-wasting 21-hydroxylase deficiency have elevated 24-h ambulatory blood pressure and absence of the physiological nocturnal dip in blood pressure. These abnormalities are associated with a raised BMI, particularly in females. Regular measurement and plotting of blood pressure should be part of the management of children with classical CAH.