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1.
Medicine (Baltimore) ; 101(11)2022 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-35356930

RESUMO

BACKGROUND: This study aimed to explore candidate genes and their potential interaction mechanism critical to the pathophysiology of Turner syndrome by using the Gene Expression Omnibus database. METHODS: GSE58435 data set was obtained by querying the Gene Expression Omnibus database. Differentially expressed genes (DEGs) were screened using R and subsequently annotated by Gene Ontology. Functional enrichment analysis was performed based on the Kyoto Encyclopedia of Genes and Genomes database for annotation, visualization, and integrated discovery. A protein-protein interaction network of different genes was constructed based on the STRING database, in which hub genes were explored through Cytoscape software. The expression of the hub genes was verified by analyzing the gene expression in the GSE46687 data set. RESULTS: A total of 733 differential genes were identified. These differentially expressed genes were significantly enriched in nucleoplasm and nucleus. Their molecular function was concentrated on DNA binding and transcription, coronary artery, and adipose tissue development. According to the annotation of Kyoto Encyclopedia of Genes and Genomes, the identified DEGs were mainly enriched in inflammatory mediator regulation of TRP channels, osteoclast differentiation. A total of 10 hub genes (HIST1H2BA, TRIM71, HIST1H2BB, HIST1H4D, TNF, TP53BP1, CDCA8, EGF, HMG20B, and BCL9) were identified from the constructed protein-protein interaction network. These genes were discovered to be highly expressed in osteoclasts, ovaries, digestive tract, blood, and lymphatic tissues through the online application of human protein atlas. CONCLUSION: In this study, 733 DEGs and 10 hub genes were identified. They would be new candidate targets in Turner syndrome.


Assuntos
Síndrome de Turner , Biologia Computacional/métodos , Bases de Dados Genéticas , Perfilação da Expressão Gênica/métodos , Ontologia Genética , Humanos , Mapas de Interação de Proteínas/genética , Fatores de Transcrição/genética , Proteínas com Motivo Tripartido/genética , Síndrome de Turner/genética , Ubiquitina-Proteína Ligases
4.
Horm Res Paediatr ; 95(1): 68-75, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35313316

RESUMO

INTRODUCTION: Turner syndrome (TS) results from a complete or partial loss of the X chromosome and affects 25-50 per 100,000 females. These individuals have characteristic neurocognitive and psychological profiles with an increased lifetime prevalence of mood disorders, such as depression and anxiety. Consensus guidelines recommend the use of psychometrically robust tools to screen for these conditions [Eur J Endocrinol. 2017;177(3):G1-G70 and Gynecol Endocrinol. 2004;19(6):313-9]. We propose a sustainable and informative approach to routine anxiety screening in individuals with TS and describe the prevalence of anxiety, genotype-phenotype associations, and impact of comorbidities on anxiety. METHODS: We pilot the use of a self-administered version of the validated Pediatric, Parent Proxy, and Adult Patient-Reported Outcomes Measurement Information System (PROMIS®) Anxiety tool during routine visits to the Cincinnati Children's Hospital Medical Center (CCHMC) TS clinic from October 2019 to March 2020. RESULTS: Ninety-two eligible TS females, ages 8-62 years, received the PROMIS® Anxiety measure. Elevated anxiety scores, ≥1 standard deviation above the T-score mean, were present in 65% of patients (38% mild, 19% moderate, and 8% severe). Results were discussed during the clinic visit, and referral for further evaluation and treatment was offered. There was no apparent genotype-phenotype association among females with anxiety; however, there appeared to be elevated anxiety symptoms (T-score >60) in those with hearing deficits and also in individuals with three or more medical comorbidities. Of the 55% of patients who filled out the acceptability survey, 88% found the process helpful and ∼50% felt that screening should be performed at least every 6 months. CONCLUSION: Our study demonstrated a high prevalence of anxiety symptoms within a cohort of 92 females with TS. In alignment with current guidelines, these findings indicate the importance of routine neuropsychological assessments for timely recognition and subsequent management of anxiety, especially as milder presentations may otherwise go unnoticed. We have shown that screening tools, such as the PROMIS® Anxiety measure, can be easily utilized by nonmental health care providers (i.e., endocrinologists) who may see TS patients more frequently and be able to initiate impactful discussions surrounding mental health and further referral to subspecialists for expert management.


Assuntos
Síndrome de Turner , Ansiedade/diagnóstico , Ansiedade/epidemiologia , Ansiedade/psicologia , Criança , Feminino , Humanos , Masculino , Programas de Rastreamento , Saúde Mental , Inquéritos e Questionários , Síndrome de Turner/complicações , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética
6.
Kyobu Geka ; 75(3): 199-202, 2022 Mar.
Artigo em Japonês | MEDLINE | ID: mdl-35249953

RESUMO

A 48-year-old woman who was diagnosed with Turner syndrome in her childhood presented with sudden onset of low back pain and respiratory discomfort. Contrast enhanced computed tomography scan revealed Stanford type A acute aortic dissection with persistent left superior vena cava (PLSVC). Emergency ascending aortic replacement was performed. After cardiopulmonary bypass was established through cannulating right femoral artery and right superior vena cava, inferior vena cava, another venous cannula was directly placed into the left superior vena cava. After core cooling, the right atrium was incised for retrograde cardioplegia. At a tympanic temperature of 25 ℃, circulatory arrest was started and retrograde cerebral perfusion was performed through right and left superior vena cava. Her postoperative course was uneventful.


Assuntos
Aneurisma Dissecante , Veia Cava Superior Esquerda Persistente , Síndrome de Turner , Aneurisma Dissecante/complicações , Aneurisma Dissecante/diagnóstico por imagem , Aneurisma Dissecante/cirurgia , Criança , Feminino , Parada Cardíaca Induzida/métodos , Humanos , Pessoa de Meia-Idade , Síndrome de Turner/complicações , Veia Cava Superior
8.
J Assist Reprod Genet ; 39(2): 543-549, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35122176

RESUMO

PURPOSE: To report the case of a young woman diagnosed with Turner syndrome (TS) who achieved a live birth using her own oocytes that had been vitrified for fertility preservation. METHODS: A 25-year-old woman with mosaic (45,X/46,XX) TS was referred for fertility preservation (FP) counseling. Serum anti-Müllerian hormone (AMH) level was normal (6.4 µg/L). In view of the unpredictable rate of follicle loss in TS individuals, she requested FP and underwent two cycles of ovarian stimulation (OS) for oocyte cryopreservation (OoC) using a GnRH antagonist protocol and recombinant follicle stimulating hormone (rFSH), 200-250 IU daily for 8 resp. 12 days. RESULTS: In total, 29 metaphase II oocytes (MII) were vitrified after OS. After conceiving spontaneously and achieving a live birth, she returned to the clinic five years after OoC with a desire for pregnancy using in vitro fertilization (IVF) of her cryopreserved oocytes and preimplantation genetic testing (PGT-A). All 29 MII oocytes were thawed; 23 oocytes survived (79.3%) and were inseminated with partner sperm using intracytoplasmic sperm injection (ICSI). Thirteen oocytes were fertilized resulting in three good quality blastocysts which were vitrified after trophectoderm biopsy for PGT-A using array-CGH. Two blastocysts were found to be euploid. One was thawed and transferred to the uterus using a HRT priming protocol. An uneventful pregnancy occurred. The patient delivered a healthy baby girl weighing 3490 g at 40 weeks of gestation. CONCLUSIONS: We report the first live birth achieved using cryopreserved oocytes in a woman diagnosed with mosaic TS. Cryopreservation of oocytes after ovarian stimulation is a realistic option for FP in selected post menarche individuals with mosaic TS. Whether PGT-A may reduce the risk of pregnancy loss in TS has to be confirmed by further studies.


Assuntos
Preservação da Fertilidade , Síndrome de Turner , Criopreservação , Feminino , Preservação da Fertilidade/métodos , Fertilização In Vitro , Humanos , Nascido Vivo , Oócitos , Gravidez , Síndrome de Turner/complicações , Síndrome de Turner/genética , Síndrome de Turner/terapia , Vitrificação
9.
Taiwan J Obstet Gynecol ; 61(1): 170-173, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35181033

RESUMO

OBJECTIVE: Cystic hygromas are frequently encountered in fetus with Turner syndrome (TS). Nevertheless, identification of genetic loci responsible for the cystic hygroma has been problematic. Here, we tried to elucidate the candidate gene for cystic hygroma through a rare case of complex Y chromosomal rearrangements involving duplication of partial Yq and monosomy of partial Yp. CASE REPORT: A 30-year-old woman, gravida 1 para 0, was diagnosed with fetal cystic hygroma at 12 weeks of gestation. The genetic analysis of the product of conception revealed complex rearrangement of Y chromosome: microdeletion in Yp11.2p11.31 and microduplicatin in Yq11.223q11.23. The deleted region spans about 6.25 Mb and includes 76 genes, including SRY. The duplicated region spans about 4.76 Mb and includes 145 genes. CONCLUSION: From this rare case with non-mosaic complex Y-chromosome rearrangements, we could narrow down Turner stigmata critical region to Yp11.2~p11.3. We also propose RPS4Y1 as lymphedema candidate gene.


Assuntos
Cromossomos Humanos Y/genética , Hidropisia Fetal/diagnóstico , Linfangioma Cístico/diagnóstico , Linfedema/genética , Adulto , Feminino , Humanos , Linfangioma Cístico/genética , Proteínas Ribossômicas , Síndrome de Turner
10.
PLoS One ; 17(2): e0264403, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35213607

RESUMO

OBJECTIVES: This systematic review aims to describe 1) the epidemiology of the diseases indicated for treatment with growth hormone (GH) in Italy; 2) the adherence to the GH treatment in Italy and factors associated with non-adherence; 3) the economic impact of GH treatment in Italy; 4) the quality of life of patients treated with GH and their caregivers in Italy. METHODS: Systematic literature searches were performed in PubMed, Embase and Web of Science from January 2010 to March 2021. Literature selection process, data extraction and quality assessment were performed by two independent reviewers. Study protocol has been registered in PROSPERO (CRD42021240455). RESULTS: We included 25 studies in the qualitative synthesis. The estimated prevalence of growth hormone deficiency (GHD) was 1/4,000-10,000 in the general population of children; the prevalence of Short Stature HOmeoboX Containing gene deficiency (SHOX-D) was 1/1,000-2,000 in the general population of children; the birth prevalence of Turner syndrome was 1/2,500; the birth prevalence of Prader-Willi syndrome (PWS) was 1/15,000. Treatment adherence was suboptimal, with a range of non-adherent patients of 10-30%. The main reasons for suboptimal adherence were forgetfulness, being away from home, pain/discomfort caused by the injection. Economic studies reported a total cost for a complete multi-year course of GH treatment of almost 100,000 euros. A study showed that drug wastage can amount up to 15% of consumption, and that in some Italian regions there could be a considerable over- or under-prescribing. In general, patients and caregivers considered the GH treatment acceptable. There was a general satisfaction among patients with regard to social and school life and GH treatment outcomes, while there was a certain level of intolerance to GH treatment among adolescents. Studies on PWS patients and their caregivers showed a lower quality of life compared to the general population, and that social stigma persists. CONCLUSION: Growth failure conditions with approved GH treatment in Italy constitute a significant burden of disease in clinical, social, and economic terms. GH treatment is generally considered acceptable by patients and caregivers. The total cost of the GH treatment is considerable; there are margins for improving efficiency, by increasing adherence, reducing drug wastage and promoting prescriptive appropriateness.


Assuntos
Hormônio do Crescimento Humano , Síndrome de Prader-Willi , Qualidade de Vida , Cooperação e Adesão ao Tratamento , Síndrome de Turner , Adolescente , Criança , Pré-Escolar , Feminino , Hormônio do Crescimento Humano/deficiência , Hormônio do Crescimento Humano/economia , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Itália/epidemiologia , Masculino , Síndrome de Prader-Willi/tratamento farmacológico , Síndrome de Prader-Willi/economia , Síndrome de Prader-Willi/epidemiologia , Prevalência , Síndrome de Turner/tratamento farmacológico , Síndrome de Turner/economia , Síndrome de Turner/epidemiologia
11.
Clin Endocrinol (Oxf) ; 96(3): 428-438, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34995381

RESUMO

OBJECTIVE: Hypertension contributes to increased risk of cardiovascular disease in patients with Turner syndrome (TS). Our objective was to evaluate blood pressure (BP) in girls with TS followed longitudinally through childhood and adolescence compared to a newly established BP reference material. DESIGN: Cohort study with data collected from 1991 to 2019 consisting of a population-based reference cohort and a group of girls with TS followed at a single tertiary centre. PATIENTS/PARTICIPANTS: Reference population of 1888 healthy girls with 4890 BP recordings and 60 girls with TS with 365 BP recordings. MEASUREMENTS: Difference in diastolic BP (DBP) and systolic BP (SBP), expressed in standard deviation scores (SDS), between girls with TS and the reference population, unadjusted and adjusted for BMI. Difference in BP (SDS) between TS subgroups (karyotype, oestrogen treatment, cardiac diagnosis). RESULTS: The girls with TS had significantly higher DBP (mean ± SD, 0.72 SDS ± 0.95; p < .001) and SBP (0.53 SDS ± 1.11; p = .001) than the reference population. Adjusted for BMI, girls with TS had significantly higher DBP (mean ± SE, 0.71 SDS ± 0.12; p < .001) but not SBP (0.17 SDS ± 0.16; p = .29). There was no significant difference in DBP (median, IQR: 0.97 SDS, 0.30-1.58 vs. 0.76 SDS, 0.10-1.20; p = .31) or SBP (0.51 SDS, 0.15-1.30 vs. 0.57 SDS, -0.30 to 1.05; p = .67) between individuals with or without a cardiac diagnosis. In the TS population, 55% (31/56) had at least one BP recording above the hypertension threshold. CONCLUSIONS: Our findings indicate that standardised longitudinal routine monitoring of BP in girls with TS already in childhood is of utmost importance.


Assuntos
Hipertensão , Síndrome de Turner , Adolescente , Pressão Sanguínea , Estudos de Coortes , Dinamarca , Feminino , Humanos , Hipertensão/diagnóstico , Masculino
12.
Eur J Hum Genet ; 30(2): 229-236, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34707298

RESUMO

The literature about eye, ear, nose, skin, and nervous system disorders in women with Turner syndrome is equivocal. Impaired vision and hearing in women with Turner syndrome have been described, and case reports of Turner syndrome girls suffering from epilepsy have been published, but no large population-based-studies have explored the occurrence of any of these disorders. We aimed to investigate the risk of admission with disorders related to the eye, ear, nose, skin, and nervous system, compared with background females, and the impact of hormone replacement therapy on these conditions. 1,156 females with TS diagnosed during 1960-2014 were identified using the Danish Cytogenetic Central Registry and linked with personal-level data from the National Patient Registry and the Medication Statistics Registry. Statistics Denmark randomly identified 115,577 age-matched background females. Negative binomial regression was used to analyze hospital discharge diagnoses, reporting incidence rate ratios (IRR). Women with Turner syndrome have an increased risk of developing eye disorders (IRR 4.3 (95% CI 3.5-5.4), including cataract, glaucoma, ocular movement, and accommodation. The risk of ear disorders (IRR 35.0 (27.9-43.9)) and nose (IRR 2.2 (1.4-3.6)) was increased in women with Turner syndrome, due to otitis media, cholesteatoma, and hearing loss. Disorders of the nervous system such as epilepsy were increased IRR 6.2 (2.4-15.9), along with skin conditions IRR 2.2 (95%CI 1.7-2.7) like psoriasis, atopic dermatitis, and ingrown nails.


Assuntos
Síndrome de Turner , Estudos de Coortes , Feminino , Humanos , Incidência , Sistema Nervoso , Sistema de Registros , Síndrome de Turner/complicações , Síndrome de Turner/tratamento farmacológico , Síndrome de Turner/epidemiologia
13.
Clin Endocrinol (Oxf) ; 96(2): 155-164, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34553783

RESUMO

OBJECTIVE: Medical care transition to adult care presents challenges for individuals with complex medical conditions such as Turner syndrome (TS). The goals of this study were to: (1) identify factors associated with transition readiness; (2) examine associations and differences between patients' and parents' perceptions of readiness using Transition Readiness Assessment Questionnaire (TRAQ). METHODS: In a prospective cross-sectional study, girls with TS 12-25 years and one parent were recruited from 11/2019 to 12/2020. Three questionnaires were administered (demographic/clinical questionnaire, TRAQ, and TS Transition Readiness Assessment Questionnaire [TS-TRAQ]). Medical records were reviewed for karyotype and personal medical history. Descriptive statistics, Spearman's correlation, paired sample t tests, and linear regression were used to examine readiness and associated factors. RESULTS: Of 44 eligible patients, 35 patients and 30 parents completed the study. Patient age, education, and life skills were associated with a higher TRAQ score (p < .001). Greater TS knowledge was associated with higher readiness (p < .05). Readiness score for patient and parental perception of patient's readiness were correlated (r = .83; p < .01). Within patient-parent dyads, patients had higher readiness (p < .01). TRAQ and TS-TRAQ scores were correlated (r = .69; p < .01). CONCLUSIONS: Increasing patient age, patient education, life skills, confidence, and higher social/emotional scores were associated with a higher total TRAQ. Patient and parent perceived readiness were correlated and scores within dyads were different. Patients had higher perceived readiness. Positive correlations between TRAQ and TS-TRAQ suggest this tool may be a useful resource. Given the unique neurocognitive profile and social/emotional challenges among girls with TS, future research should include both patients and parents, and focus on validating TS-specific transition readiness tools.


Assuntos
Transição para Assistência do Adulto , Síndrome de Turner , Adulto , Estudos Transversais , Feminino , Humanos , Pais , Estudos Prospectivos , Inquéritos e Questionários
14.
J Clin Endocrinol Metab ; 107(4): e1382-e1389, 2022 03 24.
Artigo em Inglês | MEDLINE | ID: mdl-34893832

RESUMO

CONTEXT: Delayed puberty and short stature in girls with Turner syndrome (TS) can lead to low body image, self-esteem, and satisfaction. OBJECTIVE: We aimed to evaluate body image, self-perception, and satisfaction among girls with TS using the Multi-Dimensional Body Image Self Relations Questionnaire-Appearance Scale (MBSRQ-AS). METHODS: Patients with karyotype-proven diagnosis of TS between 15 and 21 years were included after they achieved final adult height. We used the MBSRQ-AS instrument with 5 subscales: Appearance Evaluation (AE), Appearance Orientation (AO), Body Areas Satisfaction Scale (BASS), Overweight Preoccupation (OWP), and Self Classified Weight (SCW) subscales. Mean scores were compared with the available sex-matched population norms and compared between different subcohorts. RESULTS: Of 59 eligible girls, 37 girls agreed to participate with mean age 17.35 ± 1.6 years. Girls with TS had significantly lower scores than the sex-matched population norms in AO (mean [SD]: 3.32 [0.42] vs 3.91 [0.6]); P < .001) and SCW (mean [SD]: 3.26 [0.71] vs 3.57 [0.73]; P = .01) subscales. In contrast, they had slightly higher scores in BASS (mean [SD]: 3.38 [0.74] vs 3.23 [0.74]; P = .23) and OWP (mean [SD]: 3.12 [0.39] vs 3.03 [0.96]; P = .21) subscales though not statistically significant. Girls with classic 45X karyotype and those who were overweight/obese had lower scores in AE and AO subscales than the normal population (P < .05). CONCLUSION: Compared with sex-matched population norms, girls with TS are not reporting negative effects due to their appearance and report general satisfaction with most areas of their body; however, girls with TS with classic karyotype or who were obese/overweight were generally unhappy with their physical appearance. They also seem to not focus their attention on their appearance.


Assuntos
Imagem Corporal , Síndrome de Turner , Adolescente , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Obesidade , Sobrepeso , Satisfação Pessoal , Estudos Prospectivos , Autoimagem
15.
Indian J Pediatr ; 89(2): 181-183, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34843061

RESUMO

Turner syndrome (TS) affects nearly 1 in 2000 live births (1) and craniopharyngioma, a benign brain tumor, has been reported to occur at an incidence of 1.3 per million (2). These rare disorders are not known to coexist. The authors report a patient with incidental suprasellar mass who was diagnosed with both craniopharyngioma and TS, a rare association.


Assuntos
Neoplasias Encefálicas , Craniofaringioma , Neoplasias Hipofisárias , Síndrome de Turner , Craniofaringioma/complicações , Craniofaringioma/diagnóstico , Humanos , Incidência , Neoplasias Hipofisárias/diagnóstico , Síndrome de Turner/complicações , Síndrome de Turner/diagnóstico
16.
Dev Med Child Neurol ; 64(3): 331-339, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34431088

RESUMO

AIM: To study sex differences in attention-deficit/hyperactivity disorder (ADHD) symptoms, we explored whether X chromosome absence or excess is independently associated with deficits in attention and hyperactivity, executive function, and processing speed. METHOD: We assessed 116 children (ages 3y 10mo-11y 11mo, mean 8y 5mo, SD 1y 11mo) with a variable number of sex chromosomes: 36 females with Turner syndrome (45, X0), 20 males with Klinefelter syndrome (47, XXY), 37 typically developing females (XX), and 23 typically developing males (XY). RESULTS: X chromosome absence was associated with increased attention problems, hyperactivity, and deficits in inhibitory control, compared with female children with XX (all p<0.003). Conversely, X chromosome excess was associated with weakness in working memory (p=0.018) and approached significance for attention problems (p=0.071) but not with hyperactivity, or weakness in inhibitory control relative to male children with XY. Using non-parametric effect size to quantify the clinical effect revealed that X chromosome absence affected attention, hyperactivity, executive function, and processing speed (all r>0.4), while X excess affected in-laboratory as well as parent-reported working memory (all r>0.4). INTERPRETATION: Our observations provide compelling evidence that the absence or excess of an X chromosome distinctly affects cognition and behaviors associated with ADHD.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Cromossomos Humanos X/genética , Função Executiva/fisiologia , Inibição Psicológica , Memória de Curto Prazo/fisiologia , Desempenho Psicomotor/fisiologia , Caracteres Sexuais , Criança , Pré-Escolar , Feminino , Humanos , Síndrome de Klinefelter/genética , Síndrome de Klinefelter/fisiopatologia , Masculino , Síndrome de Turner/genética , Síndrome de Turner/fisiopatologia
17.
Am J Med Genet A ; 188(2): 400-413, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34773722

RESUMO

Transitioning to adult health care and functioning is crucial for youth and young adults with special health care needs, such as those with Turner syndrome (TS). The International Turner Syndrome Consensus Group developed clinical practice guidelines to improve this transition. This study sought to evaluate how effectively they have been implemented and whether they align with the priorities of women with TS and families of girls and women with TS. A web-based survey was offered to those affiliated with major TS support organizations, with 1338 successfully responding (n = 543 women [≥18 years]; n = 232 parents of a woman [≥18 years]; and n = 563 parents of a girl with TS [<18 years]). Findings demonstrated that while most women transitioned to adult primary care providers, follow-up with key specialists was lacking. Women and families prioritized flexibility in appointments and designating one provider to oversee all their TS-related care. They identified health care coverage as a barrier to receiving care. The transition process to adult care and independence commonly occurred after girls become legal adults. Together, these findings serve to inform strategies to improve the delivery of transitional care for girls and women with TS.


Assuntos
Síndrome de Turner , Adolescente , Atenção à Saúde , Feminino , Humanos , Pais , Inquéritos e Questionários , Síndrome de Turner/genética , Síndrome de Turner/terapia , Adulto Jovem
19.
BJOG ; 129(5): 796-803, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34800331

RESUMO

OBJECTIVE: To determine the characteristics and outcomes of pregnancy in women with Turner syndrome. DESIGN: Retrospective 20-year cohort study (2000-20). SETTING: Sixteen tertiary referral maternity units in the UK. POPULATION OR SAMPLE: A total of 81 women with Turner syndrome who became pregnant. METHODS: Retrospective chart analysis. MAIN OUTCOME MEASURES: Mode of conception, pregnancy outcomes. RESULTS: We obtained data on 127 pregnancies in 81 women with a Turner phenotype. All non-spontaneous pregnancies (54/127; 42.5%) were by egg donation. Only 9/31 (29%) pregnancies in women with karyotype 45,X were spontaneous, compared with 53/66 (80.3%) pregnancies in women with mosaic karyotype 45,X/46,XX (P < 0.0001). Women with mosaic karyotype 45,X/46,XX were younger at first pregnancy by 5.5-8.5 years compared with other Turner syndrome karyotype groups (P < 0.001), and more likely to have a spontaneous menarche (75.8% versus 50% or less, P = 0.008). There were 17 miscarriages, three terminations of pregnancy, two stillbirths and 105 live births. Two women had aortic dissection (2.5%); both were 45,X karyotype with bicuspid aortic valves and ovum donation pregnancies, one died. Another woman had an aortic root replacement within 6 months of delivery. Ten of 106 (9.4%) births with gestational age data were preterm and 22/96 (22.9%) singleton infants with birthweight/gestational age data weighed less than the tenth centile. The caesarean section rate was 72/107 (67.3%). In only 73/127 (57.4%) pregnancies was there documentation of cardiovascular imaging within the 24 months before conceiving. CONCLUSIONS: Pregnancy in women with Turner syndrome is associated with major maternal cardiovascular risks; these women deserve thorough cardiovascular assessment and counselling before assisted or spontaneous pregnancy managed by a specialist team. TWEETABLE ABSTRACT: Pregnancy in women with Turner syndrome is associated with an increased risk of aortic dissection.


Assuntos
Síndrome de Turner , Cesárea , Estudos de Coortes , Feminino , Humanos , Gravidez , Resultado da Gravidez/epidemiologia , Estudos Retrospectivos , Síndrome de Turner/complicações , Síndrome de Turner/epidemiologia , Síndrome de Turner/genética , Reino Unido/epidemiologia
20.
J Autism Dev Disord ; 52(5): 2203-2212, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-34081302

RESUMO

To examine the potential mechanisms underlying social deficits in Turner Syndrome, we administered the empathic accuracy task (EAT) -a naturalistic social cognition task- and a (control) visual-motor line-tracking task to 14 girls with TS was compared to 12 age-matched typically developing girls (TD; ages 12 to 17). Empathic accuracy was compared across positive and negative emotionally valanced videos. We found that TS differs from TD on empathic accuracy ratings for negative videos; no differences were detected for the positive videos or for the control line tracking task. Thus, our findings suggest impaired detection of negatively valanced empathic interactions in TS and may help inform the future development of social-cognition treatment strategies for girls with TS.


Assuntos
Transtorno do Espectro Autista , Síndrome de Turner , Adolescente , Criança , Empatia , Feminino , Humanos , Masculino , Desempenho Psicomotor , Síndrome de Turner/psicologia
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