Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 2.025
Filtrar
1.
Medicine (Baltimore) ; 99(33): e21636, 2020 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-32872025

RESUMO

RATIONALE: Turner syndrome (TS) is an anomaly caused by loss of part of or all the X chromosomes. Ankylosing spondylitis (AS) is an HLA-B27-associated autoimmune disease with a male predominance. It is widely accepted that TS patients are at higher risk of autoimmune diseases, but AS in TS patients has only rarely been reported. PATIENT CONCERNS: A 13-year-old TS patient presented with intermittent pain in both hip joints, and a 27-year-old TS patient presented with thoracic kyphosis and a history of AS. DIAGNOSES: Both patients were diagnosed with AS according to their symptoms, laboratory results, and imaging. INTERVENTIONS: The first patient was treated with tocilizumab for 8 months, whereas the second patient was treated with diclofenac initially with subsequent surgery for thoracic kyphosis. OUTCOMES: Treatment relieved the symptoms of both patients and laboratory parameters improved. LESSONS: Even though AS has a male predominance, clinicians should be aware that AS and TS may co-exist and that the clinical features are atypical in TS patients with AS.


Assuntos
Espondilite Anquilosante/complicações , Síndrome de Turner/complicações , Adolescente , Adulto , Feminino , Humanos , Espondilite Anquilosante/terapia , Síndrome de Turner/terapia
2.
Eur J Endocrinol ; 183(4): 463-470, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32822316

RESUMO

Objective: Turner syndrome (TS) is a rare disorder affecting 1/2500 female newborn. Aortic dilatation (AD) and aortic dissection represent a major concern in TS. The aims of our study were to describe the aortic root growth, potential aortic dilatation (AD) risk factors and cardiovascular outcomes in a cohort of patients with TS. Methods: Among 204 adult patients included, 197 were studied using a standardized 1.5 Tesla MRI protocol. AD was defined as an aortic diameter ≥20 mm/m2 at the Valsalva sinuses and/or at the ascending aorta, when indexed to body surface area. Results: At baseline, AD was present in 81/197 (41.1%) and 32/197 (16.2%) of patients, at the levels of Valsalva and ascending aorta, respectively. The aortic Valsalva diameter was larger in patients treated for thyroiditis (P < 0.001). Potential risk factors of AD were aging (P < 0.001) and the presence of bicuspid aortic valve (BAV) (P = 0.002). The hazard ratio (HR) of AD occurrence in the presence of BAV was 2.2 (95% CI: 1.33-3.71). After a median follow-up period of 5.1 years (n = 143), AD was present in 58/143 (40.6%) and 25/143 (17.5%) of patients at the levels of Valsalva and ascending aorta, respectively. The median aortic growth of the Valsalva sinuses remained stable. At the ascending aorta, it increased by 0.14 ± 0.61 mm/year. Only one aortic-related death was observed. Conclusion: AD is common in adult patients with TS. However, our results are rather reassuring, as the median aortic diameters remained stable after 5.1 years and few aortic events were observed.


Assuntos
Doenças da Aorta/epidemiologia , Síndrome de Turner/epidemiologia , Adulto , Aorta/diagnóstico por imagem , Aorta/patologia , Doenças da Aorta/complicações , Doenças da Aorta/diagnóstico , Valva Aórtica/anormalidades , Valva Aórtica/patologia , Estudos de Coortes , Dilatação Patológica/complicações , Dilatação Patológica/diagnóstico , Dilatação Patológica/epidemiologia , Progressão da Doença , Feminino , França/epidemiologia , Doenças das Valvas Cardíacas/complicações , Doenças das Valvas Cardíacas/diagnóstico , Doenças das Valvas Cardíacas/epidemiologia , Doenças das Valvas Cardíacas/patologia , Humanos , Masculino , Prevalência , Síndrome de Turner/complicações , Adulto Jovem
3.
PLoS One ; 15(4): e0231402, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32271829

RESUMO

BACKGROUND: Turner syndrome (TS) is a chromosomal disorder, in which a female is partially or entirely missing one of the two X chromosomes, with a prevalence of 1:2500 live female births. The present study aims to identify a circulating microRNA (miRNA) signature for TS patients with and without congenital heart disease (CHD). METHODS: Microarray platform interrogating 2549 miRNAs were used to detect the miRNA abundance levels in the blood of 33 TS patients and 14 age-matched healthy volunteer controls (HVs). The differentially abundant miRNAs between the two groups were further validated by RT-qPCR. RESULTS: We identified 60 differentially abundant miRNA in the blood of TS patients compared to HVs, from which, 41 and 19 miRNAs showed a higher and a lower abundance levels in TS patients compared to HVs, respectively. RT-qPCR confirmed the significantly higher abundance levels of eight miRNAs namely miR-374b-5p, miR-199a-5p, miR-340-3p, miR-125b-5p, miR-30e-3p, miR-126-3p, miR-5695, and miR-26b-5p in TS patients as compared with the HVs. The abundance level of miR-5695 was higher in TS patients displaying CHD as compared to TS patients without CHD (p = 0.0265; log2-fold change 1.99); whereas, the abundance level of miR-126-3p was lower in TS patients with congenital aortic valve disease (AVD) compared to TS patients without BAV (p = 0.0139, log2-fold change 1.52). The clinical feature statistics revealed that miR-126-3p had a significant correlation with sinotubular junction Z-score (r = 0.42; p = 0.0154). CONCLUSION: The identified circulating miRNAs signature for TS patients with manifestations associated with cardiovascular diseases provide new insights into the molecular mechanism of TS that may guide the development of novel diagnostic approaches.


Assuntos
MicroRNA Circulante/sangue , Síndrome de Turner/patologia , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Feminino , Cardiopatias/complicações , Cardiopatias/congênito , Cardiopatias/patologia , Ventrículos do Coração/fisiopatologia , Humanos , Cariótipo , Síndrome de Turner/complicações , Síndrome de Turner/genética , Adulto Jovem
4.
Medicine (Baltimore) ; 99(11): e19518, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32176101

RESUMO

INTRODUCTION: The incidence of Hashimoto's thyroiditis among patients who have Turner syndrome (TS) has increased, but Graves' disease (GD) in patients with TS is rarely reported. Here we report a rare case of TS with GD accompanied by hypogonadotropic hypogonadism. PATIENT CONCERNS: We report the case of a 16-year-old girl who complained nervousness, fatigue, marasmus, heat intolerance, sweating, palpitation, and tremor lasting for more than a month. She had no medical history. DIAGNOSIS: TS was diagnosed of the results of karyotyping demonstrated a gene karyotype of 46, X, i (X)(q10). GD was also diagnosed in this patient following the detection of thyroid function analysis. INTERVENTIONS: Methimazole was administered after identification of GD. Due to the absence of secondary sex characteristics, the patient was given a conjugated estrogen preparation for 1 year, followed by the addition of estradiol cyproterone tablets for the onset of menstruation. OUTCOMES: The hyperthyroidism symptoms of the patient had improved both clinically and laboratory tests after methimazole therapy. She was treated with estrogen and estradiol cyproterone, and the uterus and secondary sexual characteristics of the patient developed during 1 year follow-up. CONCLUSION: TS generally presents as hypergonadotropic hypogonadism. However, hypogonadotropic hypogonadism cannot completely exclude TS. The diagnosis of this disease depends on chromosomal examination. The disease should be detected and treated as early as possible to improve life quality of the patient.


Assuntos
Doença de Graves/diagnóstico , Síndrome de Turner/diagnóstico , Adolescente , Antitireóideos/uso terapêutico , Diagnóstico Diferencial , Fadiga/etiologia , Feminino , Doença de Graves/complicações , Humanos , Cariotipagem , Metimazol/uso terapêutico , Tremor/etiologia , Síndrome de Turner/complicações , Síndrome de Turner/genética
6.
Maturitas ; 130: 41-49, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31706435

RESUMO

Turner syndrome is one of the most common sex chromosomal anomalies, characterized by the complete or partial loss of one X chromosome. Females with Turner syndrome are characterized by skeletal abnormalities, short stature and primary ovarian insufficiency. The aim of this narrative review was to identify the underlying mechanisms of osteoporosis in Turner syndrome, summarize its clinical manifestations and provide suggestions regarding the management of osteoporosis. Girls and women with Turner syndrome have lower bone mineral density and a higher fracture rate than healthy individuals. The most important risk factors for osteoporosis are inadequately treated primary ovarian insufficiency, followed by intrinsic bone abnormalities. Comorbidities that further increase the risk of osteoporosis include vitamin D deficiency, celiac disease and inflammatory bowel disease. In addition, hearing problems can predispose to falls. Early initiation of hormone replacement therapy (HRT) at the age of 11-13 years, prompt titration to the adult dose after 2 years and long-term follow-up to ensure compliance with HRT are the cornerstones of osteoporosis prevention in women with Turner syndrome.


Assuntos
Terapia de Reposição Hormonal , Osteoporose/etiologia , Osteoporose/prevenção & controle , Síndrome de Turner/complicações , Densidade Óssea , Osso e Ossos/anormalidades , Doença Celíaca/complicações , Feminino , Fraturas Ósseas/etiologia , Fraturas Ósseas/prevenção & controle , Humanos , Doenças Inflamatórias Intestinais/complicações , Menopausa Precoce , Insuficiência Ovariana Primária/complicações , Síndrome de Turner/diagnóstico , Síndrome de Turner/tratamento farmacológico , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/tratamento farmacológico
7.
Cochrane Database Syst Rev ; 2019(10)2019 10 30.
Artigo em Inglês | MEDLINE | ID: mdl-31684688

RESUMO

BACKGROUND: The final adult height of untreated girls aged up to 18 years with Turner syndrome (TS) is approximately 20 cm shorter compared with healthy females. Treatment with growth hormone (GH) increases the adult height of people with TS. The effects of adding the androgen, oxandrolone, in addition to GH are unclear. Therefore, we conducted this systematic review to investigate the benefits and harms of oxandrolone as an adjuvant therapy for people with TS treated with GH. OBJECTIVES: To assess the effects of oxandrolone on growth hormone-treated girls aged up to 18 years with Turner syndrome. SEARCH METHODS: We searched CENTRAL, MEDLINE, Embase, the ICTRP Search Portal and ClinicalTrials.gov. The date of the last search was October 2018. We applied no language restrictions. SELECTION CRITERIA: We included randomised controlled clinical trials (RCTs) that enrolled girls aged up to 18 years with TS who were treated with GH and oxandrolone compared with GH only treatment. DATA COLLECTION AND ANALYSIS: Three review authors independently screened titles and abstracts for relevance, selected trials, extracted data and assessed risk of bias. We resolved disagreements by consensus, or by consultation with a fourth review author. We assessed trials for overall certainty of the evidence using the GRADE instrument. MAIN RESULTS: We included six trials with 498 participants with TS, 267 participants were randomised to oxandrolone plus GH treatment and 231 participants were randomised to GH only treatment. The individual trial sample size ranged between 22 and 133 participants. The included trials were conducted in 65 different paediatric endocrinology healthcare facilities including clinics, centres, hospitals and academia in the USA and Europe. The duration of interventions ranged between 3 and 7.6 years. The mean age of participants at start of therapy ranged from 9 to 12 years. Overall, we judged only one trial at low risk of bias in all domains and another trial at high risk of bias in most domains. We downgraded the level of evidence mainly because of imprecision (low number of trials, low number of participants or both). Comparing oxandrolone plus GH with GH only for final adult height showed a mean difference (MD) of 2.7 cm in favour of oxandrolone plus GH treatment (95% confidence interval (CI) 1.3 to 4.1; P < 0.001; 5 trials, 270 participants; moderate-quality evidence). The 95% prediction interval ranged between 0.3 cm and 5.1 cm. For adverse events, we based our main analysis on reliable date from two trials with overall low risk of bias. There was no evidence of a difference between oxandrolone plus GH and GH for adverse events (RR 1.81, 95% CI 0.83 to 3.96; P = 0.14; 2 trials, 170 participants; low-quality evidence). Six out of 86 (18.6%) participants receiving oxandrolone plus GH compared with 8/84 (9.5%) participants receiving GH only reported adverse events, mainly signs of virilisation (e.g. deepening of the voice). One trial each investigated the effects of treatments on speech (voice frequency; 88 participants), cognition (51 participants) and psychological status (106 participants). The overall results for these comparisons were inconclusive (very low-quality evidence). No trial reported on health-related quality of life or all-cause mortality. AUTHORS' CONCLUSIONS: Addition of oxandrolone to the GH therapy led to a modest increase in the final adult height of girls aged up to 18 years with TS. Adverse effects identified included virilising effects such as deepening of the voice, but reporting was inadequate in some trials.


Assuntos
Estatura/efeitos dos fármacos , Hormônio do Crescimento Humano/uso terapêutico , Oxandrolona/uso terapêutico , Síndrome de Turner/tratamento farmacológico , Adolescente , Androgênios/uso terapêutico , Feminino , Humanos , Ensaios Clínicos Controlados Aleatórios como Assunto , Síndrome de Turner/complicações
8.
Artigo em Inglês | MEDLINE | ID: mdl-31614840

RESUMO

Physical manifestations of Turner syndrome include short stature, a webbed neck, and a shield chest with widely spaced nipples. An aspect of the disease which has not been sufficiently explored so far is the tactile sensitivity of Turner syndrome patients. Thus, the aim of the study was to assess the threshold of tactile sensitivity on hands and feet of women suffering from Turner syndrome. Information on the participants of the study was collected on the basis of questionnaires, as well as anthropometric measurements using a skinfold caliper. Semmes-Weinstein Aesthesiometer was used to find the tactile sensitivity threshold of hands and feet of study participants. Based on the results of the study, significant differences in tactile sensitivity between women with Turner syndrome and healthy women were found. Affected women seem be more sensitive to the touch on the feet than healthy volunteers. The results of the study showed that the tactile sensitivity of women with Turner syndrome is different from that of healthy women.


Assuntos
Percepção do Tato/fisiologia , Tato/fisiologia , Síndrome de Turner/complicações , Síndrome de Turner/fisiopatologia , Adolescente , Adulto , Criança , Feminino , Humanos , Pessoa de Meia-Idade , Adulto Jovem
10.
Medicine (Baltimore) ; 98(34): e16845, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31441858

RESUMO

RATIONALE: The gonads of patients with Turner syndrome (TS) were previously thought to be funicular. There was no increase in androgen level. The gonad that is testis should be taken into account when the patient's serum testosterone level was abnormal and hypothalamic-pituitary-adrenal disease was excepted. PATIENT CONCERNS: A 16-year-old girl was admitted to our hospital because of chromosomal abnormalities and elevated androgen levels. DIAGNOSIS: Turner syndrome could be diagnosed since her chromosome karyotype was 45, XO. INTERVENTIONS: The patient was given bilateral gonadectomy and hormone replacement therapies. OUTCOME: The level of the patient's serum testosterone was <0.45 nmol/L 2 days after the operation. Postoperative pathology showed that her right gonad was testicular tissue. The patient's menstruation was normal after the treatment of hormone replacement therapy. LESSONS: All TS patients should get Y chromosome material screening. Gonadectomy could be done for Turner syndrome patients who have hyperandrogenism or Y chromosome material.


Assuntos
Gônadas/patologia , Hiperandrogenismo/complicações , Síndrome de Turner/complicações , Adolescente , Feminino , Gônadas/cirurgia , Humanos , Reação em Cadeia da Polimerase , Testosterona/sangue
11.
Ann Thorac Surg ; 108(5): 1430-1437, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31299232

RESUMO

BACKGROUND: Turner syndrome (TS) is a genetic syndrome characterized by monosomy X (45,XO) in phenotypic females and is commonly associated with congenital heart disease. We sought to describe the distribution, mortality, and morbidity of congenital heart surgery in TS and compare outcomes to individuals without genetic syndromes. METHODS: The Society of Thoracic Surgeons Congenital Heart Surgery Database was used to evaluate index cardiovascular operations performed from 2000 to 2017 in pediatric patients (aged 0-18 years) with and without TS. Analyses were stratified by the most common operations, including coarctation repair, aortic arch repair, partial anomalous pulmonary venous return repair, Norwood, superior cavopulmonary anastomosis (Glenn), and Fontan. RESULTS: Included were 780 operations in TS and 62,659 operations in controls. The most common TS operations were coarctation repair in 274 (35%), aortic arch repair in 116 (15%), and Norwood in 59 (8%). Compared with controls, TS patients had lower weight-for-age Z-scores across all operations (P < .01 for all); however, operative mortality rates did not differ significantly. The chylothorax rate was higher in TS after coarctation repair (8.8% vs 2.8%, P < .001) and Norwood (22% vs 8.1%, P < .001). The median (interquartile range) postoperative length of stay was longer in TS for coarctation repair (6.5 [5.0-15.5] days vs 5.0 [4.0-9.0] days, P < .001), aortic arch repair (15.0 [8.0-27.5] days vs 11.0 [7.0-21.0] days, P = .004), and Glenn (9.0 [6.0-16.0] days vs 6.0 [5.0-11.0] days, P = .013). CONCLUSIONS: Turner syndrome patients most commonly underwent operations for left-sided obstructive lesions. Despite increased morbidity for select operations, TS was not associated with increased operative mortality.


Assuntos
Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/cirurgia , Síndrome de Turner/complicações , Adolescente , Procedimentos Cirúrgicos Cardíacos/métodos , Criança , Pré-Escolar , Estudos de Coortes , Bases de Dados Factuais , Feminino , Humanos , Lactente , Complicações Pós-Operatórias/epidemiologia , Sociedades Médicas , Cirurgia Torácica , Resultado do Tratamento
12.
J Pediatr Adolesc Gynecol ; 32(5): 555-557, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31279777

RESUMO

BACKGROUND: Turner syndrome is a genetic disorder resulting from the absence of or structural abnormality of one X chromosome. The presence of Y chromosome material in girls with Turner syndrome confers an increased risk of benign and malignant germ cell tumor and prophylactic bilateral gonadectomy is recommended. CASE: A 10-year-old Turner mosaic syndrome (45X/46XY) patient underwent prophylactic gonadectomy after unremarkable preoperative pelvic imaging. Histopathology showed a streak right gonad, and left gonad with gonadoblastoma with limited degree of infiltrating germinoma. SUMMARYAND CONCLUSION: Gonadoblastoma and dysgerminoma have been reported in girls with Turner mosaic who carry Y chromosome material. Prophylactic gonadectomy should be considered in these girls without delay.


Assuntos
Disgerminoma/genética , Neoplasias Ovarianas/genética , Síndrome de Turner/complicações , Castração , Criança , Disgerminoma/cirurgia , Feminino , Gonadoblastoma/genética , Gonadoblastoma/cirurgia , Humanos , Neoplasias Ovarianas/cirurgia
13.
Gynecol Endocrinol ; 35(12): 1015-1020, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31242778

RESUMO

We present an unusual case of Turner syndrome (TS) and Cushing disease (CD) in a young woman, admitted to our department seven years after a successful surgical removal of ACTH-secreting pituitary tumor. To our knowledge, this is the first ever report of these two disorders coexisting. Our patient was diagnosed with TS at the age of 16 due to primary amenorrhea and short stature. Hormone replacement therapy with estrogen was initiated, but she did not receive growth hormone therapy. At the age of 28, she developed clinical and biochemical abnormalities consistent with hypercortisolism, but the definitive diagnosis of CD was established nine years later when she was admitted to our department. Appropriate treatment was applied, however, the patient developed serious complications: a myocardial infarction, diabetes and osteoporosis. Surgical treatment appeared to improve some, but not all of the symptoms, indicating a significant contribution of concomitant TS to the severity of adverse cardiovascular and bone turnover outcomes in a subject with a genetic susceptibility to these complications. Thus, multidisciplinary evaluation in such patients is strongly indicated, particularly if more predisposing conditions are present.


Assuntos
Adenoma Hipofisário Secretor de ACT/cirurgia , Adenoma/cirurgia , Hipersecreção Hipofisária de ACTH/cirurgia , Síndrome de Turner/tratamento farmacológico , Adenoma Hipofisário Secretor de ACT/complicações , Adenoma Hipofisário Secretor de ACT/fisiopatologia , Adenoma/complicações , Adenoma/metabolismo , Adenoma/fisiopatologia , Adulto , Diabetes Mellitus Tipo 2/tratamento farmacológico , Diabetes Mellitus Tipo 2/etiologia , Diabetes Mellitus Tipo 2/metabolismo , Terapia de Reposição de Estrogênios , Feminino , Humanos , Infarto do Miocárdio/etiologia , Osteoporose/diagnóstico por imagem , Osteoporose/tratamento farmacológico , Osteoporose/etiologia , Fraturas por Osteoporose/etiologia , Hipersecreção Hipofisária de ACTH/complicações , Hipersecreção Hipofisária de ACTH/metabolismo , Hipersecreção Hipofisária de ACTH/fisiopatologia , Síndrome de Turner/complicações
14.
J Pediatr Endocrinol Metab ; 32(5): 479-488, 2019 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-31075085

RESUMO

Background Females with Turner syndrome (TS) are prone to develop autoimmune diseases (AIDs). The X chromosome contains several immune-related genes. Growth hormone (GH) and estrogens modulate the immune system. We aimed to clarify whether the loss of a specific X chromosome gene locus and the administration of GH and estradiol facilitate the development of AIDs in TS females. Methods Retrospective data on clinical course, AIDs, karyotype and treatment were analyzed from a cohort of 286 Czech females with TS (current age 2.8-43.3 years; median age 18.7 years). The karyotypes were sorted using two different classification systems: a mosaicism-focused and an isochromosome (isoXq)-focused approach. Karyotype subgroups with a significantly higher prevalence of AIDs were further evaluated. Data of common therapies were correlated with the prevalence of AIDs. Results The most frequent AIDs were autoimmune thyroid disease (AITD; 37.4%; n = 107) and celiac disease (CD; 8.7%; n = 25). All karyotype subgroups were prone to develop AIDs. Females with an isolated Xp deletion had a significantly higher prevalence of AITD and CD compared to all other individuals with TS (AITD: 66.0% vs. 31.5%, p < 0.0001; CD: 17.4% vs. 7.2%; p = 0.04, respectively). We observed no link between the mean age at initiation as well as the duration of GH and/or estrogen administration and the occurrence of AIDs. Conclusions Isolated Xp deletion contributes to the development of AIDs in TS patients. The haploinsufficiency of genes located in Xpter-p11.2 may explain this observation. Common therapies used in TS do not modify the risk of AIDs.


Assuntos
Doenças Autoimunes/etiologia , Deleção Cromossômica , Cromossomos Humanos X/genética , Síndrome de Turner/genética , Adolescente , Adulto , Doenças Autoimunes/epidemiologia , Criança , Pré-Escolar , República Tcheca/epidemiologia , Feminino , Seguimentos , Humanos , Cariotipagem , Prevalência , Prognóstico , Estudos Retrospectivos , Síndrome de Turner/complicações , Adulto Jovem
15.
World Neurosurg ; 128: 340-346, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31096034

RESUMO

BACKGROUND: Spontaneous isolated carotid artery (CA) or vertebral artery (VA) dissection in the absence of coarctation has rarely been reported in the literature. We report the case of a 20-year-old woman with Turner syndrome (TS) who developed an acute left middle cerebral artery territory ischemic stroke from a spontaneous left internal carotid artery (ICA) dissection. We also conducted a systematic review of the literature to identify prior studies establishing an association or other case reports of isolated CA or VA dissection in TS. We queried 5 databases: MEDLINE (PubMed), Scopus, Embase, Cochrane Central, and CINAHL EBSCO. We used a standardized search clause across databases. Inclusion and exclusion criteria were applied to articles retrieved. Studies were excluded based on title alone, abstract, or after vetting the data presented in the paper. CASE DESCRIPTION: Three case reports of patients with TS presenting with spontaneous intracranial and/or extracranial dissection of the ICA or VA were identified and included in this review. CONCLUSIONS: We present a case of bilateral spontaneous dissection of the ICA in a patient with TS. Only 3 reported cases of spontaneous extra- or intracranial dissection of the CA or VA were identified via a systematic review of the literature. Arterial dissection of the CA or VA, especially in absence of aortic coarctation, in individuals affected with TS suggest the possibility of systemic vasculopathy. More research is needed to establish a better understanding of the phenotypic effects of TS in macro- and microvascular structures.


Assuntos
Dissecação da Artéria Carótida Interna/etiologia , Dissecação da Artéria Carótida Interna/cirurgia , Síndrome de Turner/complicações , Angiografia Cerebral , Feminino , Humanos , Infarto da Artéria Cerebral Média/complicações , Acidente Vascular Cerebral/etiologia , Tomografia Computadorizada por Raios X , Artéria Vertebral/diagnóstico por imagem , Artéria Vertebral/cirurgia , Adulto Jovem
16.
Ear Nose Throat J ; 98(6): E70-E72, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31064243

RESUMO

This is a case of a 32-year-old female with a known diagnosis of Turner syndrome who presented with complaints of chronic progressive right-sided facial pain and sinus pressure, and who was afebrile. On physical examination, there was eye proptosis on the right and significant increased fullness in the right infraorbital and maxillary regions. Computed tomography and magnetic resonance imaging demonstrated a large expansile space-occupying lesion in the right maxillary area, that histologically turned out to be a giant cell reparative granuloma. The lesion was completely removed and of interest, the patient was followed up both clinically and on imaging for 10 years with no signs of recurrence. A discussion on this entity, as well the clinical and imaging differential diagnoses, is carried out.


Assuntos
Granuloma de Células Gigantes/diagnóstico por imagem , Doenças Maxilares/diagnóstico por imagem , Adulto , Exoftalmia/etiologia , Feminino , Seguimentos , Granuloma de Células Gigantes/complicações , Granuloma de Células Gigantes/cirurgia , Humanos , Imagem por Ressonância Magnética , Doenças Maxilares/complicações , Doenças Maxilares/cirurgia , Tomografia Computadorizada por Raios X , Síndrome de Turner/complicações
17.
Eur J Obstet Gynecol Reprod Biol ; 238: 73-77, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31121341

RESUMO

INTRODUCTION: Turner syndrome is one of the most frequent chromosomal abnormalities in women, with a prevalence estimated to be 1 of 2500 live birth. Pregnancy in women with Turner syndrome is known to be at high risk, whether it is spontaneous or after oocyte donation, because of miscarriages and potential cardio-vascular complications which can be life-threatening. All of these patients should therefore be screened with a comprehensive cardio-vascular assessment before pregnancy, and have a close follow-up during and after pregnancy. PATIENTS AND METHODS: It is a retrospective study, conducted in 10 of the 27 French oocyte donation centers between 2012 and 2016, on all the patients presenting with Turner syndrome included in an oocyte donation program. RESULTS: 151 embryo transfers were realized in 73 patients, resulting in 39 pregnancies. Among these pregnancies, 24 children were born healthy, 11 spontaneous miscarriages, 3 voluntary abortions, 1 extra-uterine pregnancy and 1 maternal death from non-cardio-vascular origin occurred. Pregnancies were complicated by gravid arterial hypertension in 28.2% of cases, preeclampsia in 10.3% of cases, and gestational diabetes in 7.7% of cases. CONCLUSION: This study bring out obstetrical complications of the same magnitude than the ones described in the literature. Lead over a period of 4 years, in 10 French oocyte donation centers, it doesn't reveal any cardio-vascular complications, conversely to other studies published before French and American recommendations. This study reinforces the usefulness of specific recommendations for the care of these particular patients.


Assuntos
Doação de Oócitos/estatística & dados numéricos , Complicações na Gravidez/etiologia , Síndrome de Turner/complicações , Adulto , Feminino , França/epidemiologia , Humanos , Gravidez , Complicações na Gravidez/epidemiologia , Estudos Retrospectivos
18.
Eur J Endocrinol ; 180(6): 397-406, 2019 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-30991358

RESUMO

Objective Turner Syndrome is associated with several phenotypic conditions associated with a higher risk of subsequent comorbidity. We aimed to evaluate the prevalence of congenital malformations and the occurrence of age-related comorbid conditions and to determine whether the frequencies of congenital and acquired conditions depend on X chromosome gene dosage, as a function of karyotype subgroup. Design and methods This national retrospective observational cohort study includes 1501 patients. We evaluated the prevalence of congenital malformations and the cumulative incidence of subsequent specific comorbidities at five-year intervals, from the ages of 10 to 30 years, with stratification by karyotype subgroup: 45,X (n = 549), 45,X/46,isoXq (n = 280), 46,X,r(X)/46,XX (n = 106), 45,X/46,XX (n = 221), presence of Y (n = 87). Results Median age was 9.4 (3.7-13.7) years at first evaluation and 16.8 (11.2-21.4) years at last evaluation. Congenital heart (18.9%) malformations were more frequent in 45,X patients, and congenital renal (17.2%) malformations were more frequent in 45,X, 45,X/46,isoXq and 46,X,r(X)/46,XX patients than in those with 45,X/46,XX mosaicism or a Y chromosome (P < 0.0001). The cumulative incidence of subsequent acquired conditions, such as thyroid disease, hearing loss, overweight/obesity, dyslipidemia and, to a lesser extent, celiac disease, glucose intolerance/type 2 diabetes, hypertension and liver dysfunction increased with age, but less markedly for patients with mosaicism than for those with other karyotypes. Patients with a ring chromosome were more prone to metabolic disorders. Conclusion These data suggest that X gene chromosome dosage, particularly for Xp genes, contributes to the risk of developing comorbidities.


Assuntos
Cromossomos Humanos X/genética , Anormalidades Congênitas/genética , Dosagem de Genes , Síndrome de Turner/genética , Adolescente , Adulto , Fatores Etários , Criança , Estudos de Coortes , Comorbidade , Anormalidades Congênitas/epidemiologia , Feminino , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/genética , Humanos , Cariótipo , Rim/anormalidades , Nefropatias/congênito , Nefropatias/epidemiologia , Nefropatias/genética , Mosaicismo , Estudos Retrospectivos , Fatores de Risco , Síndrome de Turner/classificação , Síndrome de Turner/complicações , Adulto Jovem
19.
Stem Cell Res ; 37: 101422, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-31004936

RESUMO

Turner's syndrome (TS) is one of the main causes of premature ovarian failure (POF). However, the mechanisms underlying POF are difficult to study due to the lack of suitable disease models. Herein, we have generated a human induced pluripotent stem cell (hiPSC) line derived from the peripheral blood mononuclear cells of a female patient with Turner's syndrome mosaicism via integration-free Sendai-virus system. The hiPSCs were confirmed with a 45, X karyotype and the acquisition of pluripotency. It's likely that hiPSCs can serve as a feasible cellular model for further pathophysiological studies of POF cases, especially for those originating in TS.


Assuntos
Diferenciação Celular , Reprogramação Celular , Células-Tronco Pluripotentes Induzidas/patologia , Leucócitos Mononucleares/patologia , Insuficiência Ovariana Primária/patologia , Síndrome de Turner/patologia , Adulto , Células Cultivadas , Feminino , Humanos , Células-Tronco Pluripotentes Induzidas/metabolismo , Leucócitos Mononucleares/metabolismo , Mosaicismo , Fenótipo , Insuficiência Ovariana Primária/complicações , Insuficiência Ovariana Primária/genética , Síndrome de Turner/complicações , Síndrome de Turner/genética
20.
J Card Surg ; 34(5): 363-366, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30932229

RESUMO

The authors report the case of an 18-year-old woman with Turner Syndrome and aortic coarctation, who developed aortic dissection after percutaneous stenting. Surgical treatment was necessary as the lesion progressed. This case highlights both the importance of awareness as well as multidisciplinary management of this potential complication.


Assuntos
Aneurisma Dissecante/cirurgia , Aorta Torácica/cirurgia , Aneurisma Aórtico/cirurgia , Coartação Aórtica/complicações , Coartação Aórtica/cirurgia , Síndrome de Turner/complicações , Adolescente , Implante de Prótese Vascular/métodos , Procedimentos Endovasculares/métodos , Feminino , Humanos , Complicações Pós-Operatórias/cirurgia , Stents , Resultado do Tratamento
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA