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1.
Clin Endocrinol (Oxf) ; 84(5): 771-88, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26270788

RESUMO

It is paramount that any child or adolescent with a suspected disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD. If there is any doubt, the case should be discussed with the regional DSD team. In most cases, particularly in the case of the newborn, the paediatric endocrinologist within the regional team acts commonly as the first point of contact. This clinician should be part of a multidisciplinary team experienced in management of DSD and should ensure that the affected person and parents have access to specialist psychological support and that their information needs are comprehensively addressed. The underlying pathophysiology of DSD and the strengths and weaknesses of the tests that can be performed should be discussed with the parents and affected young person and tests undertaken in a timely fashion. Finally, in the field of rare conditions, it is imperative that the clinician shares the experience with others through national and international clinical and research collaboration.


Assuntos
Transtornos do Desenvolvimento Sexual/diagnóstico , Endocrinologia , Guias de Prática Clínica como Assunto , Sociedades Médicas , Adolescente , Criança , Transtornos do Desenvolvimento Sexual/genética , Transtornos do Desenvolvimento Sexual/psicologia , Feminino , Genética Médica/métodos , Humanos , Lactente , Recém-Nascido , Masculino , Pais/psicologia , Equipe de Assistência ao Paciente , Relações Médico-Paciente , Apoio Social , Reino Unido
2.
Clin Endocrinol (Oxf) ; 79(5): 689-99, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23574573

RESUMO

OBJECTIVE: We investigated the control of GH and IGF1 in acromegaly in routine clinical practice in the UK on and off medical treatment. DESIGN: The UK Acromegaly Register collected routine biochemical and clinical data on patients with acromegaly from 31 UK centres with GH data covering >30y. PATIENTS: We identified 2572 patients. Somatostatin analogues (SMS) were used in 40·6% and dopamine agonists (DA) in 41·4%. MEASUREMENTS: We identified 29,181 GH records linked to data on IGF1, surgery, radiotherapy and medical treatment and derived data on 9900 distinct Periods of Care including 4206 courses of medical treatment. We considered GH controlled when ≤2 µg/l. RESULTS: Control of GH and IGF1 improved over time, particularly on medical treatment. Control on medical treatment was better after prior surgery and/or radiotherapy. On long-term SMS, GH was controlled in 75%, IGF1 in 69% and both in 55%; on long-term DA, GH control was similar but IGF1 worse (77%/55%/45%). Responses to long-term treatment with octreotide LAR and lanreotide autogel were broadly similar, but we noted a failure to escalate SMS to maximal effective dose. Increasing precourse GH levels were associated with a decreasing proportion who achieved control, despite greater suppression from baseline. CONCLUSIONS: Control of acromegaly in the UK is improving, but 'safe' GH levels are still only achieved in 75% on long-term medical treatment, with GH and IGF1 both normalized in no more than 55% on SMS and 36% on cabergoline. It remains unclear whether the control of GH, but not IGF1, observed in many patients is sufficient to restore long-term morbidity and mortality to normal.


Assuntos
Acromegalia/sangue , Acromegalia/tratamento farmacológico , Agonistas de Dopamina/uso terapêutico , Hormônio do Crescimento/sangue , Fator de Crescimento Insulin-Like I/metabolismo , Somatostatina/análogos & derivados , Somatostatina/uso terapêutico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
3.
J Glob Health ; 12: 09004, 2022 Dec 22.
Artigo em Inglês | MEDLINE | ID: mdl-36472926

RESUMO

Background: Difficult-to-treat depression (DTD) presents a substantial health care challenge, with around one-third of people diagnosed with a depressive episode in the UK finding that their symptoms persist following treatment. This study aimed to identify priority research questions (RQs) that could inform the development of new and improved treatments, interventions, and support for people with DTD. Methods: Using an adapted Child Health and Nutrition Research Initiative (CHNRI) method, this national prioritisation exercise engaged 60 leading researchers and health care professionals in the UK, as well as 25 wider stakeholders with relevant lived experience to produce a ranked list of priority RQs in DTD. The final list of 99 distinct RQs was independently scored by 42 individuals against a list of five criteria: answerability, effectiveness, impact on health, deliverability, and equity. Results: Highly ranked RQs covered a range of novel and existing treatments. The three highest scoring RQs included evaluation of psychological and pharmacological therapies (eg, behavioural activation, and augmentation therapies), as well as social interventions to reduce loneliness or increase support for people with DTD. Conclusions: This exercise identified and prioritised 99 RQs that could inform future research and funding decisions over the next five years. The results of this research could improve treatment and support for people affected by DTD. It also serves as an example of ways in which the CHNRI method can be adapted in a collaborative manner to provide a more active role for patients, carers, and health care professionals.


Assuntos
Projetos de Pesquisa , Criança , Humanos , Reino Unido
4.
Clin Endocrinol (Oxf) ; 75(1): 12-26, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21521344

RESUMO

It is paramount that any child or adolescent with a suspected disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD. If there is any doubt, the case should be discussed with the regional team. In most cases, particularly in the case of the newborn, the paediatric endocrinologist within the regional DSD team acts as the first point of contact. The underlying pathophysiology of DSD and the strengths and weaknesses of the tests that can be performed should be discussed with the parents and affected young person and tests undertaken in a timely fashion. This clinician should be part of a multidisciplinary team experienced in management of DSD and should ensure that the affected person and parents are as fully informed as possible and have access to specialist psychological support. Finally, in the field of rare conditions, it is imperative that the clinician shares the experience with others through national and international clinical and research collaboration.


Assuntos
Transtornos do Desenvolvimento Sexual/diagnóstico , Equipe de Assistência ao Paciente/organização & administração , Guias de Prática Clínica como Assunto/normas , Adolescente , Humanos , Recém-Nascido , Reino Unido
5.
Eur J Endocrinol ; 168(6): 887-93, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23520247

RESUMO

CONTEXT: Quality 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. METHODS: Cross-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. RESULTS: QoL 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). CONCLUSIONS: Increased 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.


Assuntos
Adiposidade/fisiologia , Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Glucocorticoides/uso terapêutico , Resistência à Insulina/fisiologia , Hiperplasia Suprarrenal Congênita/metabolismo , Hiperplasia Suprarrenal Congênita/fisiopatologia , Adulto , Idoso , Estudos Transversais , Dexametasona/uso terapêutico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Reino Unido , Adulto Jovem
6.
J Clin Endocrinol Metab ; 98(2): E346-54, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23337727

RESUMO

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.


Assuntos
Hiperplasia Suprarrenal Congênita/genética , Esteroide 21-Hidroxilase/genética , Adolescente , Adulto , Idoso , Alelos , Estudos de Coortes , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Fenótipo , Reino Unido
7.
J Clin Endocrinol Metab ; 95(11): 5110-21, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20719839

RESUMO

CONTEXT: No consensus exists for management of adults with congenital adrenal hyperplasia (CAH) due to a paucity of data from cohorts of meaningful size. OBJECTIVE: Our objective was to establish the health status of adults with CAH. DESIGN AND SETTING: We conducted a prospective cross-sectional study of adults with CAH attending specialized endocrine centers across the United Kingdom. PATIENTS: Participants included 203 CAH patients (199 with 21-hydroxylase deficiency): 138 women, 65 men, median age 34 (range 18-69) years. MAIN OUTCOME MEASURES: Anthropometric, metabolic, and subjective health status was evaluated. Anthropometric measurements were compared with Health Survey for England data, and psychometric data were compared with appropriate reference cohorts. RESULTS: Glucocorticoid treatment consisted of hydrocortisone (26%), prednisolone (43%), dexamethasone (19%), or a combination (10%), with reverse circadian administration in 41% of patients. Control of androgens was highly variable with a normal serum androstenedione found in only 36% of patients, whereas 38% had suppressed levels suggesting glucocorticoid overtreatment. In comparison with Health Survey for England participants, CAH patients were significantly shorter and had a higher body mass index, and women with classic CAH had increased diastolic blood pressure. Metabolic abnormalities were common, including obesity (41%), hypercholesterolemia (46%), insulin resistance (29%), osteopenia (40%), and osteoporosis (7%). Subjective health status was significantly impaired and fertility compromised. CONCLUSIONS: Currently, a minority of adult United Kingdom CAH patients appear to be under endocrine specialist care. In the patients studied, glucocorticoid replacement was generally nonphysiological, and androgen levels were poorly controlled. This was associated with an adverse metabolic profile and impaired fertility and quality of life. Improvements in the clinical management of adults with CAH are required.


Assuntos
Hiperplasia Suprarrenal Congênita/metabolismo , Nível de Saúde , Hipercolesterolemia/metabolismo , Resistência à Insulina , Obesidade/metabolismo , Osteoporose/metabolismo , Adolescente , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Adulto , Idoso , Composição Corporal , Índice de Massa Corporal , Estudos Transversais , Feminino , Glucocorticoides/uso terapêutico , Humanos , Hipercolesterolemia/complicações , Masculino , Pessoa de Meia-Idade , Obesidade/complicações , Osteoporose/complicações , Estudos Prospectivos , Reino Unido
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