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Hypochondroplasia (HCH) is a rare skeletal dysplasia causing mild short stature. There is a paucity of growth reference charts for this population. Anthropometric data were collected to generate height, weight, and head circumference (HC) growth reference charts for children with a diagnosis of HCH. Mixed longitudinal anthropometric data and genetic analysis results were collected from 14 European specialized skeletal dysplasia centers. Growth charts were generated using Generalized Additive Models for Location, Scale, and Shape. Measurements for height (983), weight (896), and HC (389) were collected from 188 (79 female) children with a diagnosis of HCH aged 0-18 years. Of the 84 children who underwent genetic testing, a pathogenic variant in FGFR3 was identified in 92% (77). The data were used to generate growth references for height, weight, and HC, plotted as charts with seven centiles from 2nd to 98th, for ages 0-4 and 0-16 years. HCH-specific growth charts are important in the clinical care of these children. They help to identify if other comorbidities are present that affect growth and development and serve as an important benchmark for any prospective interventional research studies and trials.
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Osso e Ossos/anormalidades , Nanismo , Deformidades Congênitas dos Membros , Lordose , Osteocondrodisplasias , Criança , Humanos , Feminino , Gráficos de Crescimento , Estudos Prospectivos , Estatura/genética , Nanismo/diagnóstico , Nanismo/genética , Valores de ReferênciaRESUMO
Osteogenesis Imperfecta (OI) is a skeletal disorder characterised by a predisposition to recurrent fractures and bone deformities. Clinically OI is defined by features such as short stature, however, less is known regarding body composition. Assess body composition, both lean mass and fat mass, in a paediatric OI population. Children with OI attending the Bone service at the Royal Hospital for Children Glasgow were included; who had a dual-energy x-ray absorptiometry (DXA) scan performed 2015-2018. Height and body-mass-index (BMI) were converted to standard-deviation scores (SDS) using UK population references. DXA-derived lean mass and fat mass were used to generate lean-mass-index (LMI) and fat-mass-index (FMI) by dividing the covariates by height squared. LMI and FMI were converted to age-and-gender-adjusted SDS using DXA data from 198 local healthy children. Thirty-eight children (20 males) with median age 11.95 (range: 4.8, 18.3) years were included. Median height SDS was -1.08 (-3.64, 1.62) and was significantly lower than the healthy population (p<0.0001). Median BMI SDS was -0.10 (-2.31, 2.95), and not significantly different from the healthy population (pâ¯=â¯0.53). Median LMI SDS was -2.52 (-6.94, 0.77), and significantly lower than healthy controls (p<0.0001); 61% (23/38) had an SDS below -2.0. Median FMI SDS was 0.69 (-0.45, 2.72), significantly higher than healthy controls (p < 0.0001). BMI SDS cut-offs of -0.15 and 1.33, from ROC analysis, identified children with LMI SDS <-2, with a positive predictive value of 95% and a negative predictive value of 70%; and FMI SDS >2 with a positive predictive value of 44% and a negative predictive value of 100%. A contemporary population of children with ranging severities of OI present with significant reduction in height and lean mass, and relatively high fat mass. Standard BMI SDS cut-offs for identifying children with malnutrition and obesity have poor prognostic validity in OI.
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Osteogênese Imperfeita , Absorciometria de Fóton , Composição Corporal , Estatura , Índice de Massa Corporal , Criança , Humanos , Masculino , Osteogênese Imperfeita/diagnóstico por imagemRESUMO
OBJECTIVE: Short stature in Turner syndrome (TS) may be accompanied by skeletal disproportion. This retrospective study investigates growth and disproportion from early childhood to adult height. STUDY DESIGN: Data were collected from 59 girls prior to growth hormone (rhGH) treatment and in 30 girls followed up longitudinally. Standard deviation scores (SDS) for height (Ht), sitting height (SH) and sub-ischial leg length (LL) were compared and a disproportion score (SH SDS - LL SDS) calculated. RESULTS: In 59 girls, mean (SD) age 6.6 (2.1) years prior to rhGH treatment, LL SDS of -3.4 (1.1) was significantly lower than SH SDS of -1.2 (0.8) [p < .001]. In girls with Ht SDS < -2.0, disproportion score was > +2.0 in 27 (63%), cf eight (50%) with Ht SDS ≥ -2.0. For the longitudinal analysis, skeletal disproportion prior to rhGH was +2.4 (1.1) and +1.7 (1.0) on rhGH but prior to introduction of oestrogen [p < .001]. Disproportion at adult height was +1.1 (0.8), which was less marked than at the earlier time points [p < .001 for both comparisons]. Change in disproportion SDS over the first two years of rhGH predicted overall change in disproportion from baseline to adult height [R2 51.7%, p < .001]. CONCLUSION: TS is associated with skeletal disproportion, which is more severe in the shortest girls and present in only half of those with milder degrees of short stature. Growth-promoting therapy may improve disproportion during both the childhood and pubertal phases of growth. Change in disproportion status two years after starting rhGH helps predict disproportion at adult height.
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Hormônio do Crescimento Humano , Síndrome de Turner , Estatura , Criança , Pré-Escolar , Feminino , Transtornos do Crescimento , Hormônio do Crescimento , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Estudos Retrospectivos , Síndrome de Turner/tratamento farmacológicoRESUMO
Corticosteroids are incorporated into protocols for the treatment of acute lymphoblastic leukaemia, and hyperglycaemia is a recognised side effect. Corticosteroids exert their hyperglycaemic effect with a multifactorial mechanism. Complications of hyperglycaemia include an increased risk of infection - bacterial, viral and fungal. Approximately half of the children who develop corticosteroid-associated hyperglycaemia are predicted to require insulin treatment, with age and obesity having found to be predictive factors. Fasting and random glucose values can be used to define hyperglycaemia. This review focuses on the published evidence for significant predictive factors for the development of corticosteroid-induced hyperglycaemia and provides guidance on management.
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Corticosteroides/efeitos adversos , Hiperglicemia/induzido quimicamente , Hiperglicemia/terapia , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Criança , Gerenciamento Clínico , Humanos , Hiperglicemia/patologia , Fatores de RiscoRESUMO
AIM: To determine the prevalence and risk factors of ear disease in Turner syndrome (TS), propose an algorithm for future surveillance and recommend preventative strategies. METHODS: Review of TS patients seen in the West of Scotland between 1989 and 2015, with questionnaire follow-up in 2015. RESULTS: Of 168 girls, median age 27.3 (3.8-47.2) years, ear problems occurred more frequently with 45,X and 45,X/46,XiXq than other karyotypes: 71/103 (69%) versus 23/65 (35%). Recurrent acute otitis media (AOM) first developed at 0-5 years in 23 (40%) girls, persisting in 16 (10%) at 5-10 years; and first developing at 5-10 years in 11 (7%). Persistent otitis media with effusion (OME) first developed at 0-5 and 5-10 years in 23 (40%) and 14 (8%) girls. Recurrent AOM was significantly linked with cholesteatoma in 8 (4.9%) girls (7 aged >10 years). Permanent hearing loss was documented in 28 girls (16.7%), with 16 (9.5%) receiving hearing aids (bone-anchored in 3). CONCLUSION: Acute otitis media and OME occur commonly in preschool TS girls and may persist or newly develop in later childhood. Recurrent AOM predisposes to cholesteatoma. Strategies to reduce otological morbidity include: intensive patient education, annual audiology, vaccinations and a randomised trial of antibiotic prophylaxis in high-risk groups.
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Otite Média com Derrame , Otite Média , Síndrome de Turner , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Pessoa de Meia-Idade , Prevalência , Fatores de Risco , Síndrome de Turner/complicações , Síndrome de Turner/epidemiologia , Síndrome de Turner/terapia , Adulto JovemRESUMO
Early diagnosis of Turner syndrome (TS) is necessary to facilitate appropriate management, including growth promotion. Not all girls with TS have overt short stature, and comparison with parental height (Ht) is needed for appropriate evaluation. We examined both the prevalence and diagnostic sensitivity of measured parental Ht in a dedicated TS clinic between 1989 and 2013. Lower end of parental target range (LTR) was calculated as mid-parental Ht (correction factor 12.5 cm minus 8.5 cm) and converted to standard deviation scores (SDS) using UK 1990 data, then compared with patient Ht SDS at first accurate measurement aged > 1 year. Information was available in 172 girls of whom 142 (82.6%) were short at first measurement. However, both parents had been measured in only 94 girls (54.6%). In 92 of these girls age at measurement was 6.93 ± 3.9 years, Ht SDS vs LTR SDS - 2.63 ± 0.94 vs - 1.77 ± 0.81 (p < 0.001), Ht SDS < LTR in 78/92 (85%). Eleven of the remaining 14 girls were < 5 years, while karyotype was 45,X/46,XX in 2 and 45,X/47,XXX in 3. CONCLUSION: This study confirms the sensitivity of evaluating height status against parental height but shows that the latter is not being consistently measured. What is Known: ⢠Girls with Turner syndrome are short in relation to parental heights, with untreated final height approximately 20 cm below female population mean. ⢠Measured parental height is more accurate than reported height. What is New: ⢠In a dedicated Turner clinic, there was 85% sensitivity when comparing patient height standard deviation score at first accurate measurement beyond 1 year of age with the lower end of the parental target range standard deviation. ⢠However, measured height in both parents had been recorded in only 54.6% of the Turner girls attending the clinic. This indicates the need to improve the quality of growth assessment in tertiary care.
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Estatura , Pais , Síndrome de Turner/diagnóstico , Adolescente , Peso ao Nascer , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Cariótipo , Cariotipagem , Prevalência , Estudos Retrospectivos , Sensibilidade e Especificidade , Síndrome de Turner/epidemiologia , Síndrome de Turner/genéticaRESUMO
OBJECTIVES: To explore the prevalence and anatomic distribution of vertebral fractures in disease groups investigated for primary and secondary osteoporosis, using vertebral fracture assessment (VFA). STUDY DESIGN: VFA was performed independently by 2 nonradiologists, in 165 children (77 males, 88 females) as part of their investigation for osteoporosis. Vertebral bodies from T6 to L4 were assessed for vertebral fractures using the Genant scoring system. The common readings for the presence of vertebral fractures were used for evaluating the prevalence and anatomic distribution of vertebral fractures. RESULTS: The median age of the subjects was 13.4 years (range, 3.6, 18). Of the 165 children, 24 (15%) were being investigated for primary bone disease, and the remainder had a range of chronic diseases known to affect bone health. Vertebral fractures were identified in 38 (23%) children. The distribution of the vertebral fractures was bimodal, with vertebral fractures peaks centered at T9 and L4. Conditions associated with increased odds for vertebral fractures were inflammatory bowel disease (OR, 3.3; 95% CI, 1.4, 8.0; P = .018) and osteogenesis imperfecta (OR, 2.3; 95% CI, 1.04, 5.8; P = .022). Among children with vertebral fractures, those with Duchenne muscular dystrophy (P = .015) and osteogenesis imperfecta (P = .023) demonstrated higher number of vertebral fractures than the other disease groups. CONCLUSIONS: VFA identified the presence of vertebral fractures, in a bimodal distribution, in both primary bone disease and chronic disease groups. VFA is a practical screening tool for identification of vertebral fractures in children and adolescents at risk of fragility fractures.
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Fraturas por Osteoporose/epidemiologia , Fraturas da Coluna Vertebral/epidemiologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Osteoporose/complicações , Prevalência , Fraturas da Coluna Vertebral/etiologiaRESUMO
BACKGROUND: Turner syndrome (TS) is associated with a spectrum of health problems across the age span, which requires particular attention during the transition period in these adolescents. AREAS OF AGREEMENT: The majority of girls with TS require oestrogen replacement from puberty onwards, which is important for adequate feminization, uterine development and maintenance of bone health. There is a lifetime increased risk from autoimmune conditions like hypothyroidism, coeliac disease, hearing loss and aortic dilatation with the potential to lead to aortic dissection. A systematic and holistic approach to provision of health care in TS is needed. AREAS OF CONTROVERSY: Several unanswered questions remain, including the choice of hormone replacement therapy in the young person with TS and in adulthood; the optimal mode of cardiovascular assessment; the best management and assessment prior to and during pregnancy. AREAS TIMELY FOR DEVELOPING RESEARCH: The optimal model of care and transition to adult services in TS requires attention. Further research is needed in relation to cardiovascular risk assessment, pregnancy management and hormone replacement therapy in TS.
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Doenças Autoimunes/diagnóstico , Terapia de Reposição Hormonal/métodos , Cariotipagem/métodos , Síndrome de Turner , Adolescente , Adulto , Doenças Autoimunes/epidemiologia , Doenças Autoimunes/etiologia , Doenças Autoimunes/terapia , Criança , Consenso , Feminino , Humanos , Guias de Prática Clínica como Assunto , Gravidez , Puberdade , Fatores de Risco , Transição para Assistência do Adulto , Síndrome de Turner/complicações , Síndrome de Turner/diagnóstico , Síndrome de Turner/epidemiologia , Síndrome de Turner/terapia , Reino Unido/epidemiologiaRESUMO
INTRODUCTION: Zoledronic acid (ZA), used for treatment of children with osteoporosis, can cause acute phase reaction (APR) following the first infusion. Many institutions have a policy to admit and monitor all children for their first ZA infusion. OBJECTIVE: To determine if the APR with the first ZA dose warrants hospital-level care and evaluate if its severity correlates with the underlying condition. DESIGN: Retrospective cross-sectional analysis. SETTINGS: Two tertiary centres across the UK that run paediatric metabolic bone disease services. PATIENTS: Children who received first ZA infusion as inpatients at these centres. INTERVENTIONS: Nil. MAIN OUTCOME MEASURES: The Paediatric Early Warning Score (PEWS) and length of hospital stay to assess the severity of APR. RESULTS: 107 patients were included. Peak PEWS≤3 was found in 85% of children. 83% required admission for <24 hours. The various patient populations (osteogenesis imperfecta (OI), immobility-induced osteoporosis, idiopathic juvenile osteoporosis, systemic inflammatory disorders and steroid-induced osteoporosis, Duchenne muscular dystrophy (DMD)) did not differ significantly in the mean peak PEWS and the length of hospital stay. However, when compared directly, the group with DMD and that with systemic inflammatory disorders and steroid-induced osteoporosis differed significantly in the mean peak PEWS (p=0.011) and the length of hospital stay (p=0.048), respectively, as compared with the OI group. CONCLUSION: Most patients had a mild APR not requiring overnight hospital admission, after their first ZA dose. However, certain groups seem to suffer more severe APR and may warrant consideration of inpatient monitoring with the first infusion.
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The integral role of the hypothalamic-pituitary-gonadal axis in reproductive processes makes it a prime therapeutic target. By inhibiting sex steroid synthesis, gonadotropin-releasing hormone (GnRH) analogues are used in the management of cancers, benign neoplasms, infertility and gender dysphoria. However, the wide application of these therapeutics raises concerns regarding the unintended effects upon the cardiovascular system. In males with prostate cancer, GnRH analogues when used as an androgen deprivation therapy appear to increase the risk of cardiovascular disease, which is the leading cause of death in this population. Therefore, due to the utilisation of GnRH analogues across the lifespan and gender spectrum, this relationship merits discussion. Existing data suggest an association between GnRH analogues and major adverse cardiovascular events in males. Conversely, females receiving GnRH analogues for breast cancer treatment appear to be at an increased risk of developing hypertension. In this narrative review, we describe the uses of GnRH analogues in adults, adolescents and children. We discuss whether sex plays a role in the cardiovascular effects of GnRH analogues and explore the significance of sex hormone receptors in the vasculature. We also consider confounding factors such as malignancy, advanced age and infertility.
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Sistema Cardiovascular , Infertilidade , Neoplasias da Próstata , Adolescente , Adulto , Criança , Humanos , Masculino , Hormônio Liberador de Gonadotropina/farmacologia , Caracteres Sexuais , Antagonistas de Androgênios/uso terapêutico , Hormônios Esteroides Gonadais , Infertilidade/tratamento farmacológicoRESUMO
BACKGROUND: In cases of fractures in children with suspicion of non-accidental injury (NAI), biochemical markers of calcium homeostasis should be performed. OBJECTIVES: To describe the pattern of biochemistry in children with fractures NAI is suspected. PARTICIPANTS AND SETTING: Children ≤2 years of age who had undergone a skeletal survey as part of a child protection investigation where 1/+ fracture was identified over a ten-year period (2012-2021) at the Royal Hospital for Children, Glasgow. METHODS: A retrospective review of case notes was conducted. Established criteria to classify NAI were used to distinguish confirmed NAI from non-NAI. Biochemical markers of calcium homeostasis were classified as normal or abnormal using local reference ranges. Vitamin D deficiency was classified as Vitamin D < 25 nmol/L and insufficiency as 25-50 nmol/L. RESULTS: One hundred and twenty-seven children were identified, of whom 107 (84 %) had bone biochemistry performed. Twenty-nine children (24 %) had injuries that were classified as confirmed NAI. In cases where NAI was confirmed either at case conference or by criminal conviction 14/29 (48 %) had one or more abnormal bone biochemical markers. None of the children displayed clinical or radiological evidence of rickets. Alkaline phosphatase (ALP) was higher in children with confirmed NAI (median 296 vs. 261, p = 0.01) but there were no other statistically significant differences in biochemical levels between those with confirmed NAI compared to those without. Those with confirmed NAI were from areas with lower SIMD score (2.0 vs. 3.0 p = 0.01) but no other differences were found between the groups. CONCLUSION: No clear predictors of NAI are demonstrated on biochemistry alone in young children with fractures.
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Maus-Tratos Infantis , Fraturas Ósseas , Criança , Humanos , Lactente , Pré-Escolar , Cálcio , Estudos Retrospectivos , BiomarcadoresRESUMO
Cardiovascular related deaths account for over 40% of the excess mortality in Turner syndrome (TS). Hypertension, a modifiable risk factor for both aortic dilatation and dissection, is more commonly encountered in TS during childhood and adolescence. Treatment of hypertension is currently recommended beyond the age of 16 years in TS to help reduce the risk of aortic dissection. This study aims to determine the prevalence of hypertension in paediatric patients with TS and explore the associated methodologies of blood pressure evaluation reported in these studies. Three online databases were searched (Medline, Embase and Web of Science) for literature which reported a prevalence, or allowed calculation of prevalence, of hypertension in patients with TS who were 18 years of age or younger. Seventeen studies which met the primary eligibility criteria, with a total of 1948 patients, were included. The estimated pooled prevalence of hypertension in children and adolescents with TS was 16% (95% CI: 8.9-24.6%). There was significant heterogeneity detected between the studies. The prevalence of hypertension in those studies which assessed 24-h Ambulatory Blood Pressure Monitoring (ABPM) was 21.1% (95% CI: 15.2-27.6%) compared those which used another method of blood pressure measurement which was 13.5% (95% CI: 5.2-24.4%). Given the impact of hypertension with long-term health outcomes and the reversibility of these same outcomes by addressing abnormal blood pressure, prompt and early diagnosis of hypertension in young girls with TS should be prioritised. We recommend the use of 24-h ABPM in screening for hypertension in the paediatric TS population.
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Hipertensão , Síndrome de Turner , Feminino , Adolescente , Humanos , Criança , Síndrome de Turner/complicações , Síndrome de Turner/diagnóstico , Síndrome de Turner/epidemiologia , Monitorização Ambulatorial da Pressão Arterial , Prevalência , Hipertensão/diagnóstico , Hipertensão/epidemiologia , Hipertensão/complicações , Pressão Sanguínea/fisiologiaRESUMO
Cardiovascular disease is widespread in girls and women living with Turner syndrome (TS). Despite this prevalence, cardiovascular risk evaluation using the current guidelines has seen life-threatening aortic events occurring at dimensions classified within the normal threshold. In this study, we characterized the three-dimensional aortic geometries of Turner syndrome children and their age-matched healthy counterparts to evaluate various morphological parameters. Turner syndrome girls had overall greater values in ten out of fifteen parameters examined (p > 0.05), when compared to healthy children: the aortic arch height and width; the ascending aorta, aortic arch (2 locations), and descending aorta diameters; the ratio of the ascending to descending aorta diameter; average curvature; average torsion; and average curvature-torsion score. Additionally, significant associations were found in the TS group: body surface area and both arch height (p = 0.03) and arch height to width ratio (p = 0.05), and aortic arch diameter and both body surface area (p = 0.04) and weight (p = 0.04). The new information resulting from this small cohort study contributes to an improved understanding of the morphological parameters affecting the hemodynamic environment in TS, and the clinical assessment of the increased cardiovascular risk in this population.
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Síndrome de Turner , Criança , Humanos , Feminino , Síndrome de Turner/complicações , Estudos de Coortes , Imageamento por Ressonância Magnética , Aorta , Aorta TorácicaRESUMO
Introduction: Turner Syndrome (TS) is the commonest chromosomal abnormality in females. Establishing and maintaining long-term follow-up after transition to adult endocrine services, to allow for essential lifelong surveillance of hypertension and cardiovascular disease, and optimal hormone replacement, remains a challenge. A TS transition clinic was established with the aim of supporting successful transfer and establishing long-term follow-up in adult endocrine services. Our objectives are to evaluate the success of our TS transition service primarily in achieving and maintaining follow-up after transfer to adult services and to assess the adequacy of health surveillance post-transition with a specific focus on cardiac monitoring and hormone replacement. Methods: A departmental database was used to identify young people whose care had transferred to adult endocrine services. An electronic case record was utilised to obtain clinic attendance and relevant clinical information on cardiovascular monitoring and hormone replacement therapy (HRT). Results: Forty-six (n=46) young people transferred to adult endocrine services during the observed 20-year period, 1998-2017. Thirty-six (n=36) had transferred prior to 2015, of whom sixteen (n=16, 44%) are lost to long-term follow-up at 5 years. Overall, 41 (89%) patients have had cardiac imaging surveillance since transferring, However, only 30 (73%) of these were carried out at the recommended frequencies. All 20 women in established follow-up have had cardiac imaging. Five out of the 46 (11%) patients do not have any documented cardiovascular monitoring. Forty (86.9%) women have had a documented BP measurement. Nineteen of the 20 women who are in 5- year established follow-up have a documented blood pressure. Five (11%) women are not on HRT, while two (4%) remain on oestrogen-only HRT. Thirty-seven (80.4%) women are on combined HRT, only eight (21.6%) are on the recommended form of oestradiol. Two (4%) are not on HRT due to normal ovarian function. Conclusion: A significant proportion of girls with TS are currently lost to adult endocrine services. Strategies to improve long-term endocrine follow-up are needed to ensure lifelong health needs and adequate hormone replacement are met. Whilst similar parameters are monitored in adult endocrine services a group of patients may be at risk of receiving inadequate HRT and developing cardiovascular complications.
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Síndrome de Turner , Adulto , Humanos , Feminino , Adolescente , Masculino , Síndrome de Turner/epidemiologia , Síndrome de Turner/terapia , Terapia de Reposição Hormonal , Ovário , Escócia/epidemiologia , EstradiolRESUMO
BACKGROUND: Gender dysphoria (GD) refers to the distress that may accompany gender incongruence, often heightened at the onset of puberty, with the development of secondary sex characteristics. Children and adolescents may be especially vulnerable to severe stressors, including GD, with potentially irreversible effects if these exposures occur during critical periods of development and brain maturation. SUMMARY: We describe the evidence for GD as a chronic stressor, drawing parallels to other established models of stress, activating both innate psychological and biological stress responses. As well as being an inherently distressing experience, a person who experiences GD may also experience minority stress. Minority stress has been demonstrated in young people who experience GD with higher rates of social rejection and internalized stigma and shame. The biological stress response in young people with GD is illustrated through the activation of the hypothalamic-pituitary-adrenal axis, autonomic nervous system, and pro-inflammatory response. The number of young people who report experiencing GD has increased exponentially worldwide in the past decade, demanding a change in the clinic infrastructure. Paediatric endocrinologists and specialists in mental health work together to both support psychosocial well-being and offer individualized treatment to align the phenotype with gender identity with the aim of alleviating the distress of GD. Medical interventions may include puberty suppression and gender-affirming hormones. Ongoing monitoring is required prior to initiation and during treatment to ensure that the goals of treatment are being achieved.
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Disforia de Gênero , Identidade de Gênero , Humanos , Masculino , Feminino , Disforia de Gênero/psicologia , Sistema Hipotálamo-Hipofisário , Sistema Hipófise-Suprarrenal , PuberdadeRESUMO
Progressive osseous heteroplasia (POH) is a rare genetic disorder characterised by progressive heterotopic ossification (HO) within the skin and subcutaneous tissues. The condition is caused by heterozygous inactivating mutations of the GNAS gene and usually presents in infancy. We describe the case of a white male ex-preterm who was first referred because of subcutaneous calcium deposits along the right arm after extravasation of parenteral nutrition. As these lesions progressed, a skin biopsy was undertaken which revealed intramembranous ossification. Genetic testing revealed a constitutional, de novo, heterozygous, nonsense variant in the GNAS gene that has not previously been described, but which is consistent with patient's clinical diagnosis of POH. No endocrine abnormalities or other signs congruent with overlapping conditions were detected. To the best of our knowledge, this is the first case describing an inflammatory trigger in POH. Trials with intravenous bisphosphonate and glucocorticoid as well as with topical sodium thiosulphate were attempted without clinical improvement. Excision of the calcifications and physiotherapy seem to have provided a partial improvement on mobility of the elbow. This case widens the spectrum of phenotypes seen in GNAS mutation disorders and suggests that alternative anti-inflammatory treatments may be effective. Mutations in GNAS should be considered in cases of significant progressive calcium deposition after extravasation injury.
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OBJECTIVES: To explore the experiences of diagnostic disclosure and disclosure to others in adolescents with Turner syndrome (TS) and their parents/guardians. In addition, we sought to examine the impact of TS on girls with TS and their family's lives. DESIGN: A qualitative method utilizing interpretative phenomenological analysis (IPA) was employed. METHODS: Five girls with TS and one parent/guardian of each girl completed dyadic and individual semi-structured interviews. Interviews were audio recorded and analysed verbatim. Data were analysed in accordance with IPA guidelines, with a focus on the dynamic interactions within dyads. RESULTS: Analyses identified three superordinate themes across the 10 participant accounts: communication and support, stigmatization of TS, and psychological consequences. Ten related subthemes are described alongside relevant quotations, highlighting a gradual process of diagnostic disclosure within families and wider health care systems. Both girls and their parents appeared to express a general desire to conceal TS from others, indicating possible TS-related stigma. The results also demonstrate the varying impact TS can have within families. CONCLUSIONS: The findings provide insight into the lived experience of receiving a diagnosis of TS and the possible difficulties around disclosure to others. Potential recommendations for clinicians and parents include ensuring direct conversations about infertility occur within treatment and facilitating open, honest communication.
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Revelação , Síndrome de Turner , Adolescente , Feminino , Humanos , Pais/psicologia , Pesquisa Qualitativa , Estigma SocialRESUMO
Introduction: Although studies suggest a potential link between COVID-19 and thyroid dysfunction in adults, there are insufficient data to confirm that association in children, and whether there is any effect on presentation to healthcare services. Aims: To identify whether presentations of thyroid dysfunction in children to a tertiary paediatric hospital changed as a result of the COVID-19 pandemic. Methods: A retrospective case note review was conducted of all children with abnormal thyroid function tests between 1st January 2016 and 31st December 2021 at a tertiary paediatric endocrine centre in the United Kingdom. Results: Overall, 244 children whose first presentation was within the timeframe of interest were included in this study, with a median age (range) of 11.5 (6.1, 16.8) years. Of these, 43 (18%) were hyperthyroid and 201 (82%) were hypothyroid. The greatest number of thyroid presentations occurred in 2021 (n=60, 25% of total over time period) and the fewest in 2020 (n=10, 4% of total over time period). Prior to this, the median (range) number of presentations per year was 34 (28, 39). There were no statistically significant differences in biochemistry, antibody status or other clinical characteristics between those who presented with hyperthyroidism prior to the pandemic or after. In those with hypothyroidism, baseline biochemistry was similar between the 2 groups, but the presence of other autoimmune conditions was greater pre-pandemic (17.2% vs 15.0%, p=0.03). In addition, patients were more likely to have transient thyroid dysfunction, which did not require treatment post-pandemic (70.0% vs 49.6%, p=0.0086). Conclusions: Although overall rates of presentation with thyroid dysfunction have not altered since the first wave of the COVID-19 pandemic, presentations with transient thyroid dysfunction, not requiring ongoing treatment have increased. Further research regarding the relationship between COVID-19 and thyroid function in children and young people, is needed.
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COVID-19 , Hipertireoidismo , Hipotireoidismo , Doenças da Glândula Tireoide , Adulto , Humanos , Criança , Adolescente , COVID-19/complicações , COVID-19/epidemiologia , Pandemias , Estudos Retrospectivos , Hipertireoidismo/complicações , Hipertireoidismo/epidemiologia , Doenças da Glândula Tireoide/complicações , Doenças da Glândula Tireoide/diagnóstico , Doenças da Glândula Tireoide/epidemiologiaRESUMO
Congenital abnormalities in girls and women with Turner syndrome (TS), alongside an underlying predisposition to obesity and hypertension, contribute to an increased risk of cardiovascular disease and ultimately reduced life expectancy. We observe that children with TS present a greater variance in aortic arch morphology than their healthy counterparts, and hypothesize that their hemodynamics is also different. In this study, computational fluid dynamic (CFD) simulations were performed for four TS girls, and three age-matched healthy girls, using patient-specific inlet boundary conditions, obtained from phase-contrast MRI data. The visualization of multidirectional blood flow revealed an increase in vortical flow in the arch, supra-aortic vessels, and descending aorta, and a correlation between the presence of aortic abnormalities and disturbed flow. Compared to the relatively homogeneous pattern of time-averaged wall shear stress (TAWSS) on the healthy aortae, a highly heterogeneous distribution with elevated TAWSS values was observed in the TS geometries. Visualization of further shear stress parameters, such as oscillatory shear index (OSI), normalized relative residence time (RRTn), and transverse WSS (transWSS), revealed dissimilar heterogeneity in the oscillatory and multidirectional nature of the aortic flow. Taking into account the young age of our TS cohort (average age 13 ± 2 years) and their obesity level (75% were obese or overweight), which is believed to accelerate the initiation and progression of endothelial dysfunction, these findings may be an indication of atherosclerotic disease manifesting earlier in life in TS patients. Age, obesity and aortic morphology may, therefore, play a key role in assessing cardiovascular risk in TS children.
RESUMO
BACKGROUND: A Turner Syndrome (TS) Transition clinic, Royal Hospital for Children Glasgow (RHCG), with paediatric and adult endocrinology/gynaecology teams was established in 1998 with an aim of improving health outcomes in TS throughout the lifespan. OBJECTIVE: To evaluate the success of our TS transition service, focussing on evaluating established follow-up after transfer to adult services. METHODS: Girls attending the TS Transition clinic at Royal Hospital for Children Glasgow, 1998-2017, were identified. Attendance data were obtained from patient records and an electronic appointment system. We assessed good and late early attendance in our cohort of TS patients as well as established endocrine follow-up, defined as those still attending adult endocrine services 3 years after transfer. Success of TS transition was determined by the proportion of girls in established endocrine follow-up. RESULTS: Forty-six girls (median age 18.3 yrs) were identified. Thirty-six, 36/46 girls transferred prior to 2015 and 26 of those (72%) were in established follow-up at 3 years, 22/36 girls had met with an Adult specialist prior to transfer and 14/36 had not met with an adult specialist prior to transfer. Twenty-one (80.7%) were good early attenders (p = 0.10). In the early attenders' cohort, there was no significant difference between those that had and had not met an adult specialist prior to transfer. CONCLUSION: A significant proportion of girls with TS are currently lost to endocrine follow-up following transfer to adult clinics. Early attendance at an adult clinic appears to predict established long-term follow-up. Strategies to improve early attendance and long-term endocrine follow-up are needed to ensure lifelong health needs are addressed.