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1.
Eur J Neurosci ; 60(2): 3995-4003, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38733283

RESUMEN

Previous studies have reported sex differences in cortical gyrification. Since most cortical folding is principally defined in utero, sex chromosomes as well as gonadal hormones are likely to influence sex-specific aspects of local gyrification. Classic congenital adrenal hyperplasia (CAH) causes high levels of androgens during gestation in females, whereas levels in males are largely within the typical male range. Therefore, CAH provides an opportunity to study the possible effects of prenatal androgens on cortical gyrification. Here, we examined the vertex-wise absolute mean curvature-a common estimate for cortical gyrification-in individuals with CAH (33 women and 20 men) and pair-wise matched controls (33 women and 20 men). There was no significant main effect of CAH and no significant CAH-by-sex interaction. However, there was a significant main effect of sex in five cortical regions, where gyrification was increased in women compared to men. These regions were located on the lateral surface of the brain, specifically left middle frontal (rostral and caudal), right inferior frontal, left inferior parietal, and right occipital. There was no cortical region where gyrification was increased in men compared to women. Our findings do not only confirm prior reports of increased cortical gyrification in female brains but also suggest that cortical gyrification is not significantly affected by prenatal androgen exposure. Instead, cortical gyrification might be determined by sex chromosomes either directly or indirectly-the latter potentially by affecting the underlying architecture of the cortex or the size of the intracranial cavity, which is smaller in women.


Asunto(s)
Hiperplasia Suprarrenal Congénita , Andrógenos , Corteza Cerebral , Caracteres Sexuales , Humanos , Femenino , Masculino , Andrógenos/farmacología , Adulto , Corteza Cerebral/crecimiento & desarrollo , Corteza Cerebral/diagnóstico por imagen , Hiperplasia Suprarrenal Congénita/patología , Embarazo , Efectos Tardíos de la Exposición Prenatal/patología , Adulto Joven , Imagen por Resonancia Magnética , Adolescente
2.
Clin Endocrinol (Oxf) ; 98(1): 82-90, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-35581594

RESUMEN

OBJECTIVE: Turner syndrome (TS) is associated with short stature, delayed puberty, primary ovarian insufficiency, and other features. Most girls with TS require oestrogen replacement for pubertal induction. There is paucity of data in adult TS on pubertal outcomes, including breast satisfaction. Here, we assess breast satisfaction in TS with the BREAST-Q questionnaire, a well-validated patient-related outcome measure (PROM). DESIGN: International survey distributed online through TS support groups. PATIENTS: Adult women aged 18-45 years with TS (self-reported). MEASUREMENTS: The questionnaire contained demographics, health history and the four domains of the BREAST-Q. BREAST-Q scores were matched on a one-to-one basis for age, body mass index (BMI) and educational background to a normative data set derived from the 'Army of Women', an online community of healthy volunteers. RESULTS: Of 97 total responses, 74 could be matched to the control cohort. Median age was 32 years (18-45 years) and 97% were White Caucasian. Median age at menarche was 15.5 years (12-34 years), 86% had received pubertal induction therapy as teenagers. We found significantly lower BREAST-Q scores in TS in the domains 'Satisfaction with Breast' (p = .021), 'Psychosocial Wellbeing' (p < .0001) and 'Sexual Wellbeing' (p < .0001). TS who had received oestrogen replacement therapy reported lower scores compared to TS who had not received oestrogen therapy (p < .0001). Lower BMI and previous growth hormone therapy were associated with lower breast satisfaction. CONCLUSIONS: TS women who received oestrogen replacement for pubertal induction self-report lower breast satisfaction scores and late menarche, suggesting that type, mode of delivery, dose and timing of hormone supplements merit prospective study.


Asunto(s)
Síndrome de Turner , Humanos , Adulto , Femenino , Adolescente , Síndrome de Turner/tratamiento farmacológico , Estudios Prospectivos
3.
Artículo en Inglés | MEDLINE | ID: mdl-37964596

RESUMEN

The adolescent period is characterised by fundamental hormonal changes, which affect sex steroid production, cortisol metabolism and insulin sensitivity. These physiological changes have a significant impact on patients with congenital adrenal hyperplasia (CAH). An essential treatment aim across the lifespan in patients with CAH is to replace glucocorticoids sufficiently to avoid excess adrenal androgen production but equally to avoid cardiometabolic risks associated with excess glucocorticoid intake. The changes to the hormonal milieu at puberty, combined with poor adherence to medical therapy, often result in unsatisfactory control exacerbating androgen excess and increasing the risk of metabolic complications due to steroid over-replacement. With the physical and cognitive maturation of the adolescent with CAH, fertility issues and sexual function become a new focus of patient care in the paediatric clinic. This requires close surveillance for gonadal dysfunction, such as irregular periods/hirsutism or genital surgery-associated symptoms in girls and central hypogonadism or testicular adrenal rest tumours in boys. To ensure good health outcomes across the lifespan, the transition process from paediatric to adult care of patients with CAH must be planned carefully and early from the beginning of adolescence, spanning over many years into young adulthood. Its key aims are to empower the young person through education with full disclosure of their medical history, to ensure appropriate follow-up with experienced physicians and facilitate access to multispecialist teams addressing the complex needs of patients with CAH.

4.
BJOG ; 130(8): 978-986, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-36807756

RESUMEN

OBJECTIVE: To assess the association of ethnicity and birthplace on emotional and psychosexual well-being in women with polycystic ovary syndrome (PCOS). DESIGN: Cross-sectional study. SETTING: Community recruitment via social media campaigns. POPULATION: Women with PCOS completing an online questionnaire in September-October 2020 (UK) and May-June 2021 (India). METHODS: The survey has five components, with a baseline information and sociodemographic section followed by four validated questionnaires: Hospital Anxiety and Depression Scale (HADS); Body Image Concern Inventory (BICI); Beliefs About Obese Persons Scale (BAOP); and Female Sexual Function Index (FSFI). MAIN OUTCOME MEASURES: We used adjusted linear and logistic regression models, adjusting for age, education, marital status and parity, to evaluate the impact of ethnicity and birthplace on questionnaire scores and outcomes (anxiety and/or depression, HADS ≥ 11; body dysmorphic disorder (BDD), BICI ≥ 72). RESULTS: A total of 1008 women with PCOS were included. Women of non-white ethnicity (613/1008) reported higher rates of depression (OR 1.96, 95% CI 1.41-2.73) and lower BDD (OR 0.57, 95% CI 0.41-0.79) than white women (395/1008). Women born in India (453/1008) had higher anxiety (OR 1.57, 95% CI 1.00-2.46) and depression (OR 2.20, 95% CI 1.52-3.18) but lower BDD rates (OR 0.42, 95% CI 0.29-0.61) than women born in the UK (437/1008). All sexual domains, excluding desire, scored lower for non-white women and women born in India. CONCLUSIONS: Non-white women and women born in India reported higher emotional and sexual dysfunction, whereas white women and women born in the UK reported higher body image concerns and weight stigma. Ethnicity and birthplace need to be considered for tailored, multidisciplinary care.


Asunto(s)
Síndrome del Ovario Poliquístico , Femenino , Humanos , Estudios Transversales , Etnicidad , Encuestas y Cuestionarios , India/epidemiología , Reino Unido/epidemiología
5.
Clin Endocrinol (Oxf) ; 97(5): 664-675, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-35274331

RESUMEN

OBJECTIVE: Thyroid status in the months following radioiodine (RI) treatment for Graves' disease can be unstable. Our objective was to quantify frequency of abnormal thyroid function post-RI and compare effectiveness of common management strategies. DESIGN: Retrospective, multicentre and observational study. PATIENTS: Adult patients with Graves' disease treated with RI with 12 months' follow-up. MEASUREMENTS: Euthyroidism was defined as both serum thyrotropin (thyroid-stimulating hormone [TSH]) and free thyroxine (FT4) within their reference ranges or, when only one was available, it was within its reference range; hypothyroidism as TSH ≥ 10 mU/L, or subnormal FT4 regardless of TSH; hyperthyroidism as TSH below and FT4 above their reference ranges; dysthyroidism as the sum of hypo- and hyperthyroidism; subclinical hypothyroidism as normal FT4 and TSH between the upper limit of normal and <10 mU/L; and subclinical hyperthyroidism as low TSH and normal FT4. RESULTS: Of 812 patients studied post-RI, hypothyroidism occurred in 80.7% and hyperthyroidism in 48.6% of patients. Three principal post-RI management strategies were employed: (a) antithyroid drugs alone, (b) levothyroxine alone, and (c) combination of the two. Differences among these were small. Adherence to national guidelines regarding monitoring thyroid function in the first 6 months was low (21.4%-28.7%). No negative outcomes (new-onset/exacerbation of Graves' orbitopathy, weight gain, and cardiovascular events) were associated with dysthyroidism. There were significant differences in demographics, clinical practice, and thyroid status postradioiodine between centres. CONCLUSIONS: Dysthyroidism in the 12 months post-RI was common. Differences between post-RI strategies were small, suggesting these interventions alone are unlikely to address the high frequency of dysthyroidism.


Asunto(s)
Enfermedad de Graves , Oftalmopatía de Graves , Hipertiroidismo , Hipotiroidismo , Adulto , Antitiroideos/uso terapéutico , Enfermedad de Graves/radioterapia , Humanos , Hipertiroidismo/radioterapia , Hipotiroidismo/tratamiento farmacológico , Radioisótopos de Yodo/uso terapéutico , Estudios Retrospectivos , Tirotropina , Tiroxina/uso terapéutico
6.
Clin Endocrinol (Oxf) ; 86(4): 526-533, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-27978600

RESUMEN

OBJECTIVE: Hypopituitarism diagnosed in childhood, adolescence and young adulthood has the potential to affect growth and somatic development. Less is known about the impact of such a diagnosis on other aspects of development. DESIGN: An analysis of the KIMS database (Pfizer International Metabolic Database) was performed to explore social, educational and vocational outcomes of adult patients diagnosed in childhood, adolescence and young adulthood compared with adult-onset controls. PATIENTS: A total of 2952 adult patients diagnosed with hypothalamic pituitary conditions before the age of 25 were divided into two groups: childhood-onset [<16 years (CO)] (n = 1782) and young-adult-onset [16 to <25 years (YAO)] (n = 1170). A total of 1617 adult patients diagnosed with a nonfunctioning pituitary adenoma at the age of 25 or older formed the adult-onset control group (AO). MEASUREMENTS: KIMS Patient Life Situation Form which provided information on social, educational and vocational outcomes. RESULTS: Compared with the AO control group, CO and YAO patients were between 4·5 and 8·0 times more likely to live with their parents in adulthood; CO and YAO patients were also less likely to live in partnership and to have children. The impact on educational and vocational outcomes was less marked than on social outcomes with no significant differences compared with the AO control group. Educational and vocational outcomes showed the lowest level in male and female CO and YAO patients who had been previously diagnosed with a brain tumour. CONCLUSIONS: Social outcomes were more affected than educational and vocational outcomes. Although CO patients are more adversely affected, YAO patients were also failing to achieve social milestones. This has consequences for the delivery of endocrine care in both paediatric and adult services.


Asunto(s)
Edad de Inicio , Hormona de Crecimiento Humana/deficiencia , Hipopituitarismo/psicología , Factores Sociológicos , Adolescente , Adulto , Neoplasias Encefálicas , Niño , Bases de Datos Factuales , Escolaridad , Femenino , Humanos , Masculino , Educación Vocacional , Adulto Joven
7.
Clin Endocrinol (Oxf) ; 81(5): 652-6, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-24826983

RESUMEN

Polycystic ovary syndrome (PCOS), or the potential diagnosis of PCOS, is one of the most common reasons for adolescent girls to present to endocrinology clinics. A diagnosis of PCOS has the potential to affect the young person, not only physically, but psychologically and socially. It is important we have the knowledge, skills and attitudes to work effectively with young people to address their concerns and meet their information needs. Successful engagement and management of adolescents with PCOS may have implications in adult life. In this article, the challenges of making the diagnosis of PCOS and introducing lifestyle change and the necessary skills for working with young people are discussed.


Asunto(s)
Servicios de Salud del Adolescente , Síndrome del Ovario Poliquístico/diagnóstico , Síndrome del Ovario Poliquístico/terapia , Adolescente , Factores de Edad , Femenino , Humanos , Tamizaje Masivo , Monitoreo Fisiológico/métodos
8.
Endocr Connect ; 13(5)2024 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-38513362

RESUMEN

Objective: We conducted a survey of UK endocrine clinicians between June 2022 and August 2022 to understand current practices regarding GH treatment discontinuation in adults with growth hormone deficiency. Design and methods: Using Survey Monkey®, a web-based multiple-choice questionnaire was disseminated to the UK Society for Endocrinology membership. It consisted of 15 questions on demographics, number of patients receiving GH and current practice on GH treatment discontinuation. Results: In total, 102 endocrine clinicians completed the survey. Of these, 65 respondents (33 endocrinologists and 32 specialist nurses) indicated active involvement in managing patients with growth hormone deficiency. In total, 27.7% of clinicians were routinely offering a trial of GH discontinuation to adults receiving long-term GH therapy. Only 6% had a clinical guideline to direct such practice. In total, 29.2% stated that GH discontinuation should be routinely offered as an option to patients on long-term treatment, whilst 60% were not clearly in favour or against this approach but stated that it should probably be considered, and 9.2% were against. During the GH withdrawal period, most clinicians monitor signs and symptoms (75.4%), measure IGF-1 (84.6%), and complete a quality-of-life assessment (89.2%). Conclusion: The practice of offering a trial of GH discontinuation in growth hormone deficiency adults on long-term GH therapy is highly variable, reflecting the lack of high-quality evidence. Around a quarter of clinicians offer GH withdrawal for a number of reasons, but only a few have a local clinical guidance. A further 60% of clinicians stated they would probably consider such an approach. Methodologically sound studies underpinning the development of safe and cost-effective guidance are needed. Significance statement: In this UK survey of endocrine clinicians managing adults with growth hormone deficiency on long-term GH therapy, we explored for the first-time current practice and views on offering GH treatment discontinuation. In total, 27.7% of clinicians were routinely offering this option for a variety of reasons. Only 6% have local clinical guideline available to direct their practice on this. The majority of clinicians (60%), were not clearly in favour or against this approach but indicated it should probably be considered. In the absence of robust evidence on consequences of GH withdrawal, clinicians proposed monitoring of various clinical, biochemical and quality-of-life parameters during the period of discontinuation. Methodologically sound studies that will underpin the development of a safe, cost-effective guidance are needed.

9.
Clin Endocrinol (Oxf) ; 78(1): 23-8, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-23009615

RESUMEN

BACKGROUND: Congenital adrenal hyperplasia (CAH) has implications throughout a patient's life. The challenges of organizing transition from paediatric to adult care in endocrinology are recognized. OBJECTIVE: To evaluate whether young people with CAH have been successfully transitioned from paediatric care to specialist adult services and the influence of the introduction of a Young Person Clinic (YPC) where the young person is introduced to the adult endocrinologist. DESIGN, PATIENTS AND MEASUREMENTS: Patients aged 16+ years with CAH who had attended the adrenal clinic at Royal Manchester Children's Hospital between 1992 and 2009 were identified. Clinical information, attendance data in paediatric and adult services were obtained from patient records and the electronic appointment system. RESULTS: A total of 61 patients (27 men) were identified. Thirty-six patients were referred to specialist adult services from the paediatric service; eighteen of these (50%) were lost to follow-up (two were never offered an appointment). Only 53% of the whole group attended their first new and subsequent second appointment (i.e. good early attenders). There was no difference in engagement with adult services in those who transitioned through the YPC. Good early attenders were less likely to get lost to follow-up compared with poor early attenders (11-33% lost to follow-up compared with 63-71%). CONCLUSIONS: Half of all young people with CAH referred to specialist adult services are no longer attending. Introducing the adult endocrinologist prior to transfer had no positive effect on engagement with adult services. Attendance at the first two appointments in the adult services should be seen as an indicator of 'reasonable' engagement.


Asunto(s)
Hiperplasia Suprarrenal Congénita , Transición a la Atención de Adultos , Adolescente , Adulto , Atención a la Salud , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pediatría , Adulto Joven
10.
Clin Endocrinol (Oxf) ; 78(1): 29-35, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-22734661

RESUMEN

OBJECTIVE: Transition from child to adult status is a crucial stage in young people's lives. It is important that young people continue to receive appropriate endocrine care throughout and following transfer from paediatric to adult services. This study examined indicators of patient loss to follow-up at initial transfer from paediatric care to identify implications for transitional care practice and research. METHODS: A retrospective analysis of patient data following transfer from paediatric services to a young person's transition clinic was conducted. Attendance data from 103 patients transferred to the Young Person's Clinic were analysed to determine the factors affecting nonattendance 1-year post-transfer. RESULTS: We found that overall one quarter of patients did not attend the young person's clinic in the first year after transfer. Those with poor attendance prior to transfer were likely to be poor attenders post-transfer. Further, those without an appointment scheduled in the first 6 months of their final paediatric transfer appointment were less likely to attend in the first year. CONCLUSIONS: Young people are at risk of losing contact during the transfer from paediatric to the young person's clinic. Measures that promote continuity of contact could reduce the risk of long-term disengagement with care. Further development and research is required to identify the best ways to help young people with endocrine conditions in the transition from child to adult status.


Asunto(s)
Continuidad de la Atención al Paciente , Endocrinología , Adolescente , Adulto , Femenino , Humanos , Masculino , Estudios Retrospectivos , Adulto Joven
11.
Endocr Connect ; 12(11)2023 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-37646639

RESUMEN

With increasing evidence of emotional well-being disorders associated with polycystic ovary syndrome (PCOS), effective screening processes are of utmost importance. We studied the impact of using questionnaires to screen for emotional and psychosexual well-being across different models of care for PCOS. We analysed the data from the surveys to assess the difference in the prevalence of emotional and psychosexual ill-being across ethnicity and region. In this prospective cohort study, we invited all women attending consultations for PCOS in Birmingham, UK, and Bengaluru and Navi Mumbai, India. Those who consented to participate in the study were invited to complete a pre-clinic survey about socio-demographic data, Hospital Anxiety and Depression Scale (HADS), Body Image Concern Inventory (BICI), Beliefs about Obese Person scale (BAOP), and Female Sexual Function Index score (FSFI) and a post-clinic survey on clinic experience, lifestyle advice, and specialist referral. A total of 115 women were included in this study. The rate of questionnaire completion was 98.3% (113/115), 97.4% (112/115), 93.04% (107/115), and 84.3% (97/115) for HADS, BICI, BAOP, and FSFI, respectively. In the post-clinic survey, 28.8% reported they were screened for anxiety, 27.1% for depression, and 45.8% for body image concerns. The prevalence of anxiety, depression, and body dysmorphic disorder through pre-clinic survey was 56.5% (50.0% UK vs 59.5% India, P = 0.483), 16.5% (13.9% UK vs 17.7% India, P = 0.529), and 29.6% (36.1% UK vs 26.6% India, P = 0.208), respectively. Surveys with validated questionnaires can improve screening for emotional and psychosexual well-being associated with PCOS which may be missed by ad hoc screening during consultations.

12.
Endocr Connect ; 12(8)2023 Jul 12.
Artículo en Inglés | MEDLINE | ID: mdl-37253239

RESUMEN

Objective: Patients with primary adrenal insufficiency (PAI) are thought to be particularly vulnerable to coronavirus disease 2019 (COVID-19); however, little is known about its true impact on this group. We assessed morbidity and health promotion attitudes during the pandemic amongst a large cohort of patients with PAI. Design: Cross-sectional, single-centre study. Methods: In May 2020, COVID-19 advice on social distancing and sick-day rules was distributed to all patients with PAI registered with a large secondary/tertiary care centre. A semi-structured questionnaire was used to survey patients in early 2021. Results: Of 207 contacted patients, 162 responded (82/111 with Addison's disease, AD; 80/96 with congenital adrenal hyperplasia, CAH). Patients with AD were older than those with CAH (median age 51 vs 39 years; P < 0.001) and had more comorbidities (Charlson comorbidity index ≥2 47.6% vs 10.0%; P< 0.001). By the time of the survey, 47 patients (29.0%) had been diagnosed with COVID-19, the second commonest cause of sick-day dosing during the study and the leading trigger of adrenal crises (4/18 cases). Patients with CAH had a higher risk of COVID-19 compared to AD (adjusted odds ratio 2.53 (95% CI 1.07-6.16), P= 0.036), were less inclined to have the COVID-19 vaccine (80.0% vs 96.3%; P = 0.001), and were less likely to have undergone hydrocortisone self-injection training (80.0% vs 91.5%; P = 0.044) or wear medical alert jewellery (36.3% vs 64.6%; P = 0.001). Conclusions: COVID-19 was a principal trigger for adrenal crises and sick-day dosing in patients with PAI. Despite a higher risk of COVID-19, patients with CAH showed less engagement with self-protective attitudes. Significance statement: We conducted a cross-sectional study on a large and well-characterised group of patients with PAI and demonstrated that COVID-19 was a leading cause of morbidity during the early phases of the pandemic. Patients with AD were older and had a greater burden of comorbidity than those with CAH, including non-adrenal autoimmune disorders. However, patients with CAH were more likely to develop COVID-19 and demonstrated reduced engagement with healthcare services and health promotion strategies.

13.
Clin Med (Lond) ; 12(6): 561-6, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-23342411

RESUMEN

The outcome of transition from paediatric to adult care is often judged by what happens after transfer. Young people at the point of transfer are reported to have low levels of knowledge and independence. These observations could be interpreted in one of two ways: either that the transition process before transfer is inadequate or that the transition process needs to continue into young adulthood and therefore adult care. The second interpretation is further supported by brain development continuing into the third decade. There is also growing evidence for the effectiveness of young adult clinics in the process of transition. To optimise transition, adult physicians need not only to work with paediatricians to achieve continuity during transfer, but also to look critically at their service as to how it can be changed to meet the needs of young people. In addition, they need to develop knowledge, skills and attitudes to communicate effectively and address a young person's developmental and health needs.


Asunto(s)
Conocimientos, Actitudes y Práctica en Salud , Aceptación de la Atención de Salud , Pediatría/organización & administración , Rol del Médico , Transición a la Atención de Adultos/organización & administración , Adolescente , Factores de Edad , Humanos , Reino Unido , Adulto Joven
14.
Arch Dis Child Educ Pract Ed ; 97(3): 86-92, 2012 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-21979963

RESUMEN

The lack of focus on young people as a group with particular healthcare needs in medical training and the health service underpins the difficulty that we have experienced as a profession in improving transition in the UK. This article discusses current progress towards improving training in young people's health in the UK, the evidence base for transitional care in young people with chronic conditions with interventions that focus on staffing, service delivery and young people, a practice based approach for transitional care in young people with learning difficulties and complex needs, the need for monitoring and evaluation of transitional care, and the challenge of funding.


Asunto(s)
Transición a la Atención de Adultos/organización & administración , Adolescente , Desarrollo del Adolescente , Medicina del Adolescente/educación , Enfermedad Crónica , Continuidad de la Atención al Paciente , Personas con Discapacidad , Necesidades y Demandas de Servicios de Salud , Humanos , Discapacidades para el Aprendizaje/terapia , Modelos Organizacionales , Atención Dirigida al Paciente , Relaciones Médico-Paciente , Adulto Joven
15.
Endocr Connect ; 11(10)2022 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-35968864

RESUMEN

Precision medicine employs digital tools and knowledge of a patient's genetic makeup, environment and lifestyle to improve diagnostic accuracy and to develop individualised treatment and prevention strategies. Precision medicine has improved management in a number of disease areas, most notably in oncology, and it has the potential to positively impact others, including endocrine disorders. The accuracy of diagnosis in young patients with growth disorders can be improved by using biomarkers. Insulin-like growth factor I (IGF-I) is the most widely accepted biomarker of growth hormone secretion, but its predictive value for recombinant human growth hormone treatment response is modest and various factors can affect the accuracy of IGF-I measurements. These factors need to be taken into account when considering IGF-I as a component of precision medicine in the management of growth hormone deficiency. The use of genetic analyses can assist with diagnosis by confirming the aetiology, facilitate treatment decisions, guide counselling and allow prompt intervention in children with pubertal disorders, such as central precocious puberty and testotoxicosis. Precision medicine has also proven useful during the transition of young people with endocrine disorders from paediatric to adult services when patients are at heightened risk of dropping out from medical care. An understanding of the likelihood of ongoing GH deficiency, using tools such as MRI, detailed patient history and IGF-I levels, can assist in determining the need for continued recombinant human growth hormone treatment during the process of transitional care.

16.
Endocr Rev ; 43(5): 794-823, 2022 09 26.
Artículo en Inglés | MEDLINE | ID: mdl-34962573

RESUMEN

Endocrine disorders in survivors of childhood, adolescent, and young adult (CAYA) cancers are associated with substantial adverse physical and psychosocial effects. To improve appropriate and timely endocrine screening and referral to a specialist, the International Late Effects of Childhood Cancer Guideline Harmonization Group (IGHG) aims to develop evidence and expert consensus-based guidelines for healthcare providers that harmonize recommendations for surveillance of endocrine disorders in CAYA cancer survivors. Existing IGHG surveillance recommendations for premature ovarian insufficiency, gonadotoxicity in males, fertility preservation, and thyroid cancer are summarized. For hypothalamic-pituitary (HP) dysfunction, new surveillance recommendations were formulated by a guideline panel consisting of 42 interdisciplinary international experts. A systematic literature search was performed in MEDLINE (through PubMed) for clinically relevant questions concerning HP dysfunction. Literature was screened for eligibility. Recommendations were formulated by drawing conclusions from quality assessment of all evidence, considering the potential benefits of early detection and appropriate management. Healthcare providers should be aware that CAYA cancer survivors have an increased risk for endocrine disorders, including HP dysfunction. Regular surveillance with clinical history, anthropomorphic measures, physical examination, and laboratory measurements is recommended in at-risk survivors. When endocrine disorders are suspected, healthcare providers should proceed with timely referrals to specialized services. These international evidence-based recommendations for surveillance of endocrine disorders in CAYA cancer survivors inform healthcare providers and highlight the need for long-term endocrine follow-up care in subgroups of survivors and elucidate opportunities for further research.


Asunto(s)
Supervivientes de Cáncer , Enfermedades del Sistema Endocrino , Enfermedades Hipotalámicas , Neoplasias , Enfermedades de la Hipófisis , Neoplasias de la Tiroides , Adolescente , Niño , Enfermedades del Sistema Endocrino/diagnóstico , Enfermedades del Sistema Endocrino/epidemiología , Femenino , Humanos , Masculino , Neoplasias/epidemiología , Sobrevivientes , Adulto Joven
18.
Arch Dis Child ; 106(1): 9-13, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-32561543

RESUMEN

The 2019 NHS England Long Term Plan set out the ambition to work across the 0-25 age range to support children and young people as they make the transition to early adulthood. Within this broad age bracket, how do we ensure we get health services right for 16-25 year-olds including the transfer to adult services? In this paper, we explore the evidence supporting youth-friendly and developmentally appropriate healthcare approaches and what these mean in practice for young people and healthcare professionals. Examples from primary and secondary care, as well as the perspectives of a young person, illustrate the challenges and solutions.


Asunto(s)
Servicios de Salud del Adolescente , Transición a la Atención de Adultos , Adolescente , Humanos , Garantía de la Calidad de Atención de Salud , Medicina Estatal , Reino Unido , Adulto Joven
19.
Lancet Child Adolesc Health ; 5(9): 662-676, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-34214482

RESUMEN

Unexplained or idiopathic pituitary stalk thickening or central diabetes insipidus not only harbours rare occult malignancies in 40% of cases but can also reflect benign congenital defects. Between 2014 and 2019, a multidisciplinary, expert national guideline development group in the UK systematically developed a management flowchart and clinical practice guideline to inform specialist care and improve outcomes in children and young people (aged <19 years) with idiopathic pituitary stalk thickening, central diabetes insipidus, or both. All such cases of idiopathic pituitary stalk thickening and central diabetes insipidus require dynamic pituitary function testing, specialist pituitary imaging, measurement of serum ß-human chorionic gonadotropin and alpha-fetoprotein concentrations, chest x-ray, abdominal ultrasonography, optometry, and skeletal survey for occult disease. Stalk thickening of 4 mm or more at the optic chiasm, 3 mm or more at pituitary insertion, or both, is potentially pathological, particularly if an endocrinopathy or visual impairment coexists. In this guideline, we define the role of surveillance, cerebrospinal fluid tumour markers, whole-body imaging, indications, timing and risks of stalk biopsy, and criteria for discharge. We encourage a registry of outcomes to validate the systematic approach described in this guideline and research to establish typical paediatric stalk sizes and the possible role of novel biomarkers, imaging techniques, or both, in diagnosis.


Asunto(s)
Diabetes Insípida Neurogénica , Manejo de Atención al Paciente , Hipófisis , Adolescente , Niño , Consenso , Diabetes Insípida Neurogénica/etiología , Diabetes Insípida Neurogénica/fisiopatología , Diabetes Insípida Neurogénica/terapia , Humanos , Tamaño de los Órganos , Manejo de Atención al Paciente/métodos , Manejo de Atención al Paciente/tendencias , Hipófisis/diagnóstico por imagen , Hipófisis/metabolismo , Hipófisis/patología , Guías de Práctica Clínica como Asunto
20.
Eur J Endocrinol ; 185(5): 729-741, 2021 Oct 11.
Artículo en Inglés | MEDLINE | ID: mdl-34524979

RESUMEN

CONTEXT: 17α-Hydroxylase/17,20-lyase deficiency (17OHD) caused by mutations in the CYP17A1 gene is a rare form of congenital adrenal hyperplasia typically characterised by cortisol deficiency, mineralocorticoid excess and sex steroid deficiency. OBJECTIVE: To examine the phenotypic spectrum of 17OHD by clinical and biochemical assessment and corresponding in silico and in vitro functional analysis. DESIGN: Case series. PATIENTS AND RESULTS: We assessed eight patients with 17OHD, including four with extreme 17OHD phenotypes: two siblings presented with failure to thrive in early infancy and two with isolated sex steroid deficiency and normal cortisol reserve. Diagnosis was established by mass spectrometry-based urinary steroid profiling and confirmed by genetic CYP17A1 analysis, revealing homozygous and compound heterozygous sequence variants. We found novel (p.Gly111Val, p.Ala398Glu, p.Ile371Thr) and previously described sequence variants (p.Pro409Leu, p.Arg347His, p.Gly436Arg, p.Phe53/54del, p.Tyr60IlefsLys88X). In vitro functional studies employing an overexpression system in HEK293 cells showed that 17,20-lyase activity was invariably decreased while mutant 17α-hydroxylase activity retained up to 14% of WT activity in the two patients with intact cortisol reserve. A ratio of urinary corticosterone over cortisol metabolites reflective of 17α-hydroxylase activity correlated well with clinical phenotype severity. CONCLUSION: Our findings illustrate the broad phenotypic spectrum of 17OHD. Isolated sex steroid deficiency with normal stimulated cortisol has not been reported before. Attenuation of 17α-hydroxylase activity is readily detected by urinary steroid profiling and predicts phenotype severity. SIGNIFICANCE STATEMENT: Here we report, supported by careful phenotyping, genotyping and functional analysis, a prismatic case series of patients with congenital adrenal hyperplasia due to 17α-hydroxylase (CYP17A1) deficiency (17OHD). These range in severity from the abolition of function, presenting in early infancy, and unusually mild with isolated sex steroid deficiency but normal ACTH-stimulated cortisol in adult patients. These findings will guide improved diagnostic detection of CYP17A1 deficiency.


Asunto(s)
Esteroide 17-alfa-Hidroxilasa/genética , Adolescente , Hiperplasia Suprarrenal Congénita/genética , Amenorrea/genética , Simulación por Computador , Corticosterona/orina , Insuficiencia de Crecimiento/enzimología , Insuficiencia de Crecimiento/genética , Femenino , Cromatografía de Gases y Espectrometría de Masas , Hormonas Esteroides Gonadales/deficiencia , Ginecomastia/etiología , Ginecomastia/genética , Células HEK293 , Humanos , Hidrocortisona/deficiencia , Lactante , Recién Nacido , Masculino , Mineralocorticoides/metabolismo , Mutación/genética , Fenotipo , Esteroides/orina , Adulto Joven
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