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2.
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
3.
Biochem Genet ; 58(1): 74-101, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31273557

RESUMO

Chromosomal microarray (CMA) has emerged as a robust tool for identifying microdeletions and microduplications, termed copy number variants (CNVs). Nevertheless, data regarding its utility in different patient populations with developmental delay (DD), dysmorphic features (DF) and congenital anomalies (CA), is a matter of dense debate. Although regions of homozygosity (ROH) are not diagnostic of a specific condition, they may have pathogenic implications. Certain CNVs and ROH have ethnically specific occurrences and frequencies. We aimed to determine whether CMA testing offers additional diagnostic information over classical cytogenetics for identifying genomic imbalances in a pediatric cohort with idiopathic DD, DF, or CA. One hundred sixty-nine patients were offered cytogenetics and CMA simultaneously for etiological diagnosis of DD (n = 67), DF (n = 52) and CA (n = 50). CMA could identify additional, clinically significant anomalies as compared with cytogenetics. CMA detected 61 CNVs [21 (34.4%) pathogenic CNVs, 37 (60.7%) variants of uncertain clinical significance and 3 (4.9%) benign CNVs] in 44 patients. CMA identified one or more ROH in 116/169 (68.6%) patients. When considering pathogenic CNVs and aneuploidies as positive findings, 9/169 (5.3%) received a genetic diagnosis from cytogenetics, while 25/169 (14.8%) could have a genetic diagnosis from CMA. The identification of ROH was clinically significant in two cases (2/169), thereby, adding 1.2% to the diagnostic yield of CMA (16% vs. 5.3%, p < 0.001). CMA uncovers additional genetic diagnoses over cytogenetics, thereby, offering a much higher diagnostic yield. Our findings convincingly demonstrate the additive diagnostic value of clinically significant ROH identified during CMA testing, highlighting the need for careful clinical interpretation of these ROH.


Assuntos
Síndrome de Down/diagnóstico , Homozigoto , Síndrome de Klinefelter/diagnóstico , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Síndrome de Turner/diagnóstico , Adolescente , Criança , Pré-Escolar , Quebra Cromossômica , Estudos de Coortes , Variações do Número de Cópias de DNA , Deficiências do Desenvolvimento/genética , Síndrome de Down/genética , Feminino , Humanos , Lactente , Recém-Nascido , Síndrome de Klinefelter/genética , Masculino , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Síndrome da Trissomia do Cromossomo 13/genética , Síndrome da Trissomía do Cromossomo 18/genética , Síndrome de Turner/genética
4.
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
5.
Tex Heart Inst J ; 46(3): 225-228, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31708710

RESUMO

Anomalous origin of the right coronary artery from the pulmonary artery, a rare congenital cardiac defect, is typically not diagnosed during infancy. On the other hand, Turner syndrome is usually diagnosed early, and it is classically associated with bicuspid aortic valve and aortic coarctation. Individuals with Turner syndrome are also at increased risk for coronary artery anomalies. We present a case of anomalous right coronary artery from the pulmonary artery in a week-old neonate who also had Turner syndrome, patent ductus arteriosus, transverse aortic arch hypoplasia, and impaired ventricular function. Prostaglandin therapy through the ductus increased the patient's myocardial perfusion. Four months after corrective surgery, she was doing well. We discuss the reperfusion phenomenon in our patient's case, as well as other considerations in this combination of congenital defects.


Assuntos
Anormalidades Múltiplas , Aorta Torácica/anormalidades , Anomalias dos Vasos Coronários/diagnóstico , Vasos Coronários/diagnóstico por imagem , Artéria Pulmonar/anormalidades , Síndrome de Turner/diagnóstico , Aorta Torácica/diagnóstico por imagem , Aorta Torácica/cirurgia , Implante de Prótese Vascular/métodos , Cateterismo Cardíaco , Angiografia por Tomografia Computadorizada , Anomalias dos Vasos Coronários/cirurgia , Vasos Coronários/cirurgia , Ecocardiografia , Feminino , Fluoroscopia , Humanos , Recém-Nascido , Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/cirurgia
6.
Diagn Cytopathol ; 47(11): 1203-1207, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31336030

RESUMO

Ovarian gonadoblastoma coexisting with a dysgerminoma is extremely rare in patients with Turner syndrome (TS) and a Y chromosome. The cytological findings, including imprint cytology, of these unusual ovarian tumors have rarely been reported. We report a rare patient with a gonadoblastoma with dysgerminoma, 3.0 × 2.0 cm in size; she was a 19-year-old woman with TS and a Y chromosome. She underwent laparoscopic bilateral gonadectomy, and the tumor was classified as stage IA (pT1aNxM0) according to the International Federation of Gynecology and Obstetrics classification system. Intraoperative imprint cytology revealed two types of neoplastic cells: small tumor cells surrounding light green-stained or eosinophilic hyaline globules with marked calcification, suspicious for gonadoblastoma; and large, round, atypical cells with abundant cytoplasm, macronucleoli, and marked lymphocytic infiltration (two-cell pattern), suspicious for dysgerminoma. The cytology results in our patient may represent the second reported results of imprint cytology describing a gonadoblastoma with dysgerminoma. They are the first reported results in a patient with TS and a Y chromosome.


Assuntos
Cromossomos Humanos Y/metabolismo , Disgerminoma , Gonadoblastoma , Neoplasias Ovarianas , Síndrome de Turner , Adulto , Disgerminoma/diagnóstico , Disgerminoma/metabolismo , Disgerminoma/patologia , Disgerminoma/cirurgia , Feminino , Gonadoblastoma/diagnóstico , Gonadoblastoma/metabolismo , Gonadoblastoma/patologia , Gonadoblastoma/cirurgia , Humanos , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/metabolismo , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/terapia , Síndrome de Turner/diagnóstico , Síndrome de Turner/metabolismo , Síndrome de Turner/patologia , Síndrome de Turner/cirurgia
7.
Nat Rev Endocrinol ; 15(10): 601-614, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31213699

RESUMO

Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome, often in mosaic karyotypes. Turner syndrome is associated with short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, infertility, congenital malformations of the heart, endocrine disorders such as type 1 and type 2 diabetes mellitus, osteoporosis and autoimmune disorders. Morbidity and mortality are increased in women with Turner syndrome compared with the general population and the involvement of multiple organs through all stages of life necessitates a multidisciplinary approach to care. Despite an often conspicuous phenotype, the diagnostic delay can be substantial and the average age at diagnosis is around 15 years of age. However, numerous important clinical advances have been achieved, covering all specialty fields involved in the care of girls and women with Turner syndrome. Here, we present an updated Review of Turner syndrome, covering advances in genetic and genomic mechanisms of disease, associated disorders and multidisciplinary approaches to patient management, including growth hormone therapy and hormone replacement therapy.


Assuntos
Gerenciamento Clínico , Terapia de Reposição Hormonal/métodos , Hormônio do Crescimento Humano/administração & dosagem , Síndrome de Turner/genética , Síndrome de Turner/terapia , Feminino , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/terapia , Terapia de Reposição Hormonal/tendências , Humanos , Síndrome de Turner/diagnóstico
8.
Endokrynol Pol ; 70(4): 342-349, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31073987

RESUMO

INTRODUCTION: Turner syndrome (TS) is due to a chromosomal abnormality in which only one normal X chromosome is present. The purpose of the study was the assessment the prevalence of phenotypic differences in TS-women and monosomy-45,X and with other karyotypes as well as the possible relationship between the presence of differentiating features and age at final TS diagnosis. MATERIAL AND METHODS: The prevalence of anomalies and abnormalities from history taking/physical examination of 157 TS-patients was compared to 25 healthy controls (age 27.3 ± 4.5 years). The age at TS-symptom occurrence and final TS diagnosis was also analysed. RESULTS: Ninety-three TS women with 45,X (25.2 ± 7.1y) and 64 with other karyotypes (non-45,X) (age 24.1 ± 8.2 years) had lower growth than controls (144 ± 7.6 and 145.7 ± 6.8 vs. 165.8 ± 6.6 cm, respectively; p < 0.001). Only 15 and 12 out of 37 non-gynaecological features occurred more frequently in 45,X and non-45,X, compared to controls. 45,X and non-45,X wpmen did not differ in terms of body height. Out of 60 study parameters, only nine differed significantly between 45,X TS women and those with other karyotypes. Mean age at TS-symptom occurrence (45,X: 6.8 ± 5.4 years; non-45,X: 10.3 ± 5.2 years; p < 0.001) and final TS diagnosis (45,X: 13.2 ± 8 years; non 45,X: 17 ± 8.2 years; p = 0.004) differed between TS groups. CONCLUSIONS: 1. The prevalence of the majority of clinical manifestations of Turner syndrome does not differ between TS women with 45,X monosomy and non-45,X karyotypes. 2. Certain manifestations of Turner syndrome are more prevalent in women with non-45,X karyotypes compared to those with 45,X monosomy. 3. Clinical manifestations, the prevalence of which differs between TS-women with non-45,X karyotypes and 45,X monosomy, might help lower the age at diagnosis.


Assuntos
Cariótipo , Fenótipo , Síndrome de Turner/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Adulto Jovem
9.
J Reprod Dev ; 65(3): 231-237, 2019 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-30773506

RESUMO

The partial or complete loss of one X chromosome in humans causes Turner syndrome (TS), which is accompanied by a range of physical and reproductive pathologies. This article reports similarities between the phenotype of a pig with monosomy X and the symptoms of TS in humans. Born as the offspring of a male pig carrying a mutation in an X-chromosomal gene, ornithine transcarbamylase (OTC), the female pig (37,XO) was raised to the age of 36 months. This X-monosomic pig presented with abnormal physical characteristics including short stature, micrognathia, and skeletal abnormalities in the limbs. Furthermore, the female did not exhibit an estrous cycle, even after reaching the age of sexual maturity, and showed no ovarian endocrine activity except for an irregular increase in blood 17ß-estradiol levels, which was seemingly attributable to sporadic follicular development. An autopsy at 36 months revealed an undeveloped reproductive tract with ovaries that lacked follicles. These data demonstrated that the growth processes and anatomical and physiological characteristics of an X-monosomic pig closely resembled those of a human with TS.


Assuntos
Monossomia/genética , Síndrome de Turner/genética , Síndrome de Turner/veterinária , Cromossomo X , Animais , Autopsia , Modelos Animais de Doenças , Feminino , Genes Ligados ao Cromossomo X , Cariotipagem , Masculino , Mutação , Ornitina Carbamoiltransferase/genética , Folículo Ovariano/anormalidades , Fenótipo , Suínos , Tomografia Computadorizada por Raios X , Síndrome de Turner/diagnóstico
10.
J Gynecol Obstet Hum Reprod ; 48(4): 265-267, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30685428

RESUMO

BACKGROUND: If turner syndrome (TS) patients have a Y-containing cell line, they have an increased risk for gonadal tumors. TS patients are therefore screened for Y-chromosome and Y-specific sequences, such as SRY, DYZ1, DYZ3, DYS132, ZFY, TSPY, etc. In addition, since the dysgenetic gonad may include the stroma and granulosa/sertoli cells, which produce androgens, virilization can seen in girls with Y-chromosomal material. Prophylactic gonadectomy may therefore be required for optimal management in such patients. Our aim is to discuss our observations in the follow-up of TS patients. METHODS: SRY was investigated in 71 out of 85 TS cases (aged 3 months-27 years) between 2005 and 2017. Fluorescent in situ hybridization (FISH) was used until 2014, after which SRY analysis was performed using the polymerase chain reaction (PCR) method. SRY analysis was performed a second time using PCR in 25 cases previously investigated with FISH. RESULTS: We identified no positive cases. No pathological findings in terms of virilization, clitoromegaly, or posterior labial adhesions were also determined in our TS cases. Further studies were not required since no pathological findings also were detected at ultrasonography. CONCLUSION: If Y-chromosome material has not been detected by conventional cytogenetic methods in TS patients with masculine features, further techniques should be applied to prevent the risk of invasive tumors, such as multiple sequences beside the Y centromere. This approach will prevent overtreatment.


Assuntos
DNA/análise , Genes sry/genética , Cariótipo , Síndrome de Turner/genética , Castração , Cromossomos Humanos Y/genética , Feminino , Disgenesia Gonadal Mista/genética , Gonadoblastoma/prevenção & controle , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Mosaicismo , Reação em Cadeia da Polimerase , Síndrome de Turner/diagnóstico
11.
Fertil Steril ; 111(3): 505-509, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30598170

RESUMO

OBJECTIVE: To study the safety and efficacy of ovarian stimulation and oocyte cryopreservation as a method of fertility preservation in women with Turner syndrome (TS). DESIGN: Retrospective cohort study. SETTING: Reproductive medicine clinic. PATIENT(S): Seven women with TS who attended the clinic between 2011 and 2017. INTERVENTION(S): Ovarian stimulation and oocyte cryopreservation. MAIN OUTCOMES MEASURE(S): Number of oocytes cryopreserved, ovarian hyperstimulation syndrome. RESULT(S): The oocyte retrieval rates (mean ± SD, 9 ± 3.16) in women with TS were comparable to the published data from healthy women. The oocyte yield was higher than expected based on the low antimüllerian hormone levels. There was no correlation between baseline antimüllerian hormone or antral follicle count levels and the number of oocytes retrieved. CONCLUSION(S): Oocyte cryopreservation after ovarian stimulation appears to be safe and successful in women with mosaic TS who wish to consider fertility preservation.


Assuntos
Criopreservação , Fármacos para a Fertilidade Feminina/uso terapêutico , Preservação da Fertilidade/métodos , Infertilidade Feminina/terapia , Oócitos , Indução da Ovulação/métodos , Ovulação/efeitos dos fármacos , Síndrome de Turner/complicações , Adolescente , Adulto , Feminino , Fármacos para a Fertilidade Feminina/efeitos adversos , Preservação da Fertilidade/efeitos adversos , Humanos , Infertilidade Feminina/diagnóstico , Infertilidade Feminina/etiologia , Infertilidade Feminina/fisiopatologia , Recuperação de Oócitos , Síndrome de Hiperestimulação Ovariana/induzido quimicamente , Reserva Ovariana/efeitos dos fármacos , Indução da Ovulação/efeitos adversos , Gravidez , Estudos Retrospectivos , Resultado do Tratamento , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Adulto Jovem
13.
Biosci Rep ; 39(1)2019 01 31.
Artigo em Inglês | MEDLINE | ID: mdl-30530863

RESUMO

Turner syndrome (TS) is a congenital disease caused by complete or partial loss of one X chromosome. Low bone mineral status is a major phenotypic characteristic of TS that can not be fully explained by X chromosome loss, suggesting other autosomal-linked mutations may also exist. Therefore, the present study aimed to detect potential genetic mutations in TS through examination of copy number variation (CNV). Seventeen patients with TS and 15 healthy volunteer girls were recruited. Array-based comparative genomic hybridization (a-CGH) was performed on whole blood genomic DNA (gDMA) from the 17 TS patients and 15 healthy volunteer girls to identify potential CNVs. The abnormal CNV of one identified gene (CARD11) was verified by quantitative PCR. All cases diagnosed had TS based on genotype examination and physical characteristics, including short stature and premature ovarian failure. Three rare CNVs, located individually at 7p22.3, 7p22.2, and Xp22.33, where six genes (TTYH3, AMZ1, GNA12, BC038729, CARD11, and SHOX (stature homeobox)) are located, were found in TS patients. Quantitative PCR confirmed the CNV of CARD11 in the genome of TS patients. Our results indicate that CARD11 gene is one of the mutated genes involved in TS disease. However, this CNV is rare and its contribution to TS phenotype requires further study.


Assuntos
Proteínas Adaptadoras de Sinalização CARD/genética , Cromossomos Humanos X/química , Variações do Número de Cópias de DNA , Guanilato Ciclase/genética , Síndrome de Turner/genética , Adolescente , Antropometria , Proteínas Adaptadoras de Sinalização CARD/deficiência , Estudos de Casos e Controles , Criança , Pré-Escolar , Hibridização Genômica Comparativa , Feminino , Genótipo , Guanilato Ciclase/deficiência , Humanos , Mutação , Fenótipo , Síndrome de Turner/diagnóstico , Síndrome de Turner/patologia , Adulto Jovem
14.
Hypertension ; 73(1): 242-248, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30571546

RESUMO

We evaluated the development in blood pressure (BP) and heart rate in young women with Turner syndrome (TS) and investigated potential influencing cofactors. Twenty TS women (mean±SD, 22.9±2.3 years of age) were investigated in a 5-year prospective setting. Data were derived from a randomized controlled clinical trial investigating 2 different doses of estradiol treatment (2 mg 17ß-estradiol per day and placebo or 2+2 mg 17ß-estradiol per day). A control group of 12 healthy age-matched young women (mean±SD, 23.11±2.2 years of age) was examined at the end of the study. BP and lipids were monitored yearly. At the end of the study, TS (n=15) and controls were examined by 24-hour ambulatory BP monitoring. Systolic and diastolic BPs increased regardless of estradiol dose ( P=0.005 and P=0.009) in TS patients, whereas heart rate decreased ( P=0.05). Neither body mass index, height, weight, nor lipids contributed significant to the changes. There was no difference in BP, heart rate, or lipids because of treatment. At the end of the study, diastolic BP and heart rate were significantly higher in TS during day, night, and over 24 hours. Systolic BP increased insignificantly. Lipids did not change during the study period, but body mass index determined individual levels. In conclusion, systolic and diastolic BPs increase significantly in late adolescence and early adulthood in TS. It remains an enigma why BP increases early in life in TS. Clinical Trial Registration- URL: http://www.clinicaltrials.gov . Unique identifier: NCT00134745.


Assuntos
Pressão Sanguínea/efeitos dos fármacos , Estradiol , Síndrome de Turner , Adolescente , Adulto , Monitorização Ambulatorial da Pressão Arterial/métodos , Relação Dose-Resposta a Droga , Monitoramento de Medicamentos/métodos , Estradiol/administração & dosagem , Estradiol/efeitos adversos , Estrogênios/administração & dosagem , Estrogênios/efeitos adversos , Feminino , Frequência Cardíaca/efeitos dos fármacos , Humanos , Resultado do Tratamento , Síndrome de Turner/diagnóstico , Síndrome de Turner/tratamento farmacológico , Síndrome de Turner/fisiopatologia
16.
J Cardiovasc Magn Reson ; 20(1): 80, 2018 12 13.
Artigo em Inglês | MEDLINE | ID: mdl-30541571

RESUMO

BACKGROUND: Women with Turner Syndrome have an increased risk for aortic dissection. Arterial stiffening is a risk factor for aortic dilatation and dissection. Here we investigate if arterial stiffening can be observed in Turner Syndrome patients and is an initial step in the development of aortic dilatation and subsequent dissection. METHODS: Fifty-seven women with Turner Syndrome (48 years [29-66]) and thirty-six age- and sex-matched controls (49 years [26-68]) were included. Distensibility, blood pressure, carotid-femoral pulse wave velocity (PWV), the augmentation index (Aix) and central blood pressure were determined using cardiovascular magnetic resonance, a 24-h blood pressure measurement and applanation tonometry. Aortic distensibility was determined at three locations: ascending aorta, transverse aortic arch, and descending aorta. RESULTS: Mean aortic distensibility in the descending aorta was significantly lower in Turner Syndrome compared to healthy controls (P = 0.02), however, this was due to a much lower distensibility among Turner Syndrome with coarctation, while Turner Syndrome without coarctation had similar distensibility as controls. Both the mean heart rate adjusted Aix (31.4% vs. 24.4%; P = 0.02) and central diastolic blood pressure (78.8 mmHg vs. 73.7 mmHg; P = 0.02) were higher in Turner Syndrome compared to controls, and these indices correlated significantly with ambulatory night-time diastolic blood pressure. The presence of aortic coarctation (r = - 0.44, P = 0.005) and a higher central systolic blood pressure (r = - 0.34, P = 0.03), age and presence of diabetes were inversely correlated with aortic distensibility in TS. CONCLUSION: Aortic wall function in the descending aorta is impaired in Turner Syndrome with lower distensibility among those with coarctation of the aorta, and among all Turner Syndrome higher Aix, and elevated central diastolic blood pressure when compared to sex- and age-matched controls. TRIAL REGISTRATION: The study was registered at ClinicalTrials.gov ( #NCT01678274 ) on September 3, 2012.


Assuntos
Aneurisma Dissecante/diagnóstico por imagem , Aorta/diagnóstico por imagem , Aneurisma Aórtico/diagnóstico por imagem , Hipertensão/diagnóstico por imagem , Imagem Cinética por Ressonância Magnética , Síndrome de Turner/complicações , Rigidez Vascular , Adulto , Idoso , Aneurisma Dissecante/etiologia , Aneurisma Dissecante/fisiopatologia , Aorta/fisiopatologia , Aneurisma Aórtico/etiologia , Aneurisma Aórtico/fisiopatologia , Estudos de Casos e Controles , Dilatação Patológica , Feminino , Humanos , Hipertensão/etiologia , Hipertensão/fisiopatologia , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Prospectivos , Análise de Onda de Pulso , Síndrome de Turner/diagnóstico
17.
J Electrocardiol ; 51(6): 945-947, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30497753

RESUMO

Fetal atrioventricular (AV) block is a rare and potentially devastating condition. Most commonly fetal AV block is mediated by maternal lupus antibodies which cause irreversible damage to the AV node. For many fetuses, the only potential intervention is premature delivery and highly invasive pacemaker implantation. However, there exists a small subset of fetuses with non-immune mediated AV block who appear to have far better outcomes, with potential for spontaneous resolution and a return to sinus rhythm. Despite this, it is not clear that prenatal counseling takes this fact into account. We describe a series of three patients with non-immune fetal second-degree AV block with spontaneous resolution prior to delivery, underscoring the need for appropriate prenatal counseling in this scenario.


Assuntos
Bloqueio Atrioventricular/diagnóstico por imagem , Ecocardiografia , Diagnóstico Pré-Natal , Adolescente , Bloqueio Atrioventricular/fisiopatologia , Feminino , Idade Gestacional , Humanos , Gravidez , Remissão Espontânea , Síndrome de Turner/diagnóstico
18.
Rev. chil. endocrinol. diabetes ; 11(4): 148-155, dic. 2018. ilus, tab, graf
Artigo em Espanhol | LILACS | ID: biblio-968639

RESUMO

Turner syndrome (TS) is a common disorder (1/2.000 women) that affects multiple organs at different stages of life and needs a multidisciplinary approach. It can be present in women of all ethnicities and is caused by a monosomy of the X chromosome that causes a haploinsufficiency of certain genes. Its main features consist of specific but variables physical characteristics, congenital heart defects, renal anomalies, middle and inner ear diseases, skeletal alterations, and from the endocrinological point of view, short stature and ovarian insufficiency. Given the comorbidities associated with TS, it has been estimated that they have an increased risk of mortality (up to 3 times more) and a reduction in life expectancy of approximately 13 years. Depending on the genotype, the abnormalities can become very subtle, in these cases the diagnosis is late, when the adolescent consults, for example, for primary amenorrhea or an adult woman for infertility. Once the diagnosis is confirmed by a karyotype, these patients must remain in pediatric control in a continuous way to investigate associated pathologies in a timely manner, with periodic evaluations by specialists, such as otolaryngologists, cardiologists, neurologists and endocrinologists, among others. Numerous advances in the care of these patients gave rise to new guidelines published in 2017. In this article we will comment on the main conditions associated with TS and its specific etiology, we will mention what is relevant regarding the genotype-phenotype relationship in this syndrome and we will discuss the fundamental aspects of the control of the TS patient, with emphasis on the treatment of short stature and ovarian insufficiency, as well as the cardiovascular aspects and those related to fertility.


El Síndrome de Turner (ST) es una patología frecuente (1/2.000 mujeres) que afecta múltiples órganos en distintas etapas de la vida y necesita un enfoque multidisciplinario. Se produce por una monosomía del cromosoma X que provoca una haploinsuficiencia de determinados genes. Sus características principales consisten en un fenotipo característico pero variable, con presencia de cardiopatías congénitas, anomalías renales, enfermedades del oído medio e interno, alteraciones esqueléticas, y del punto de vista endocrinológico, talla baja e insuficiencia ovárica. Dadas las comorbilidades asociadas al ST, principalmente cardiovasculares (CV), presentan mayor mortalidad con respecto a la población general (hasta 3 veces más). Dependiendo del genotipo, las anomalías pueden llegar a ser muy sutiles, realizándose en estos casos el diagnóstico en forma tardía, cuando la adolescente consulte, por ejemplo, por amenorrea primaria o una mujer adulta por infertilidad. Una vez confirmado el diagnóstico mediante un cariotipo, estas pacientes deben permanecer en control endocrinológico pediátrico en forma continua hasta la transición hacia adultos, con el fin de pesquisar patologías asociadas en forma oportuna. Por ello requieren evaluaciones periódicas por especialistas, tales como otorrinolaringólogos, cardiólogos, neuropsiquiatras, entre otros. Numerosos avances en el cuidado de estas pacientes, dieron origen a nuevas guías publicadas el 2017. En este artículo comentaremos sobre las principales condiciones asociadas al ST y su etiología específica, mencionaremos lo relevante respecto a la relación genotipo-fenotipo en este síndrome y discutiremos los aspectos fundamentales del control de la paciente con ST, haciendo énfasis en el tratamiento de la talla baja y la insuficiencia ovárica, así como los aspectos CV y los relacionados a fertilidad.


Assuntos
Humanos , Feminino , Criança , Adolescente , Síndrome de Turner/complicações , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Otorrinolaringopatias/etiologia , Síndrome de Turner/tratamento farmacológico , Terapia de Reposição de Estrogênios , Estrogênios/uso terapêutico , Disgenesia Gonadal/etiologia , Transtornos do Crescimento/etiologia , Cardiopatias Congênitas/etiologia , Infertilidade Feminina
19.
Mali Med ; 33(2): 21-22, 2018.
Artigo em Francês | MEDLINE | ID: mdl-30484580

RESUMO

Turner syndrome is a chromosomal aberration linked to the complete or partial absence of an X chromosome. Its prevalence is 1/2500 female newborns. We report a case in the department of internal medicine and endocrinology of the hospital of MALI. This was a 14-year old girl who consulted for stunting and puberty. She presented clinically a dysmorphic syndrome, TANNER stage1 secondary sexual characteristics, weight and height at -3 DS and a bone age estimated to 9½ years old on the X-ray of the hand. The hormonal assessment showed an elevation of FSH and LH and the genetic study showed an iso chromosome Xq. This result was part of a Turner syndrome with Xq iso chromosome.


Assuntos
Puberdade Tardia/etiologia , Síndrome de Turner/diagnóstico , Adolescente , Determinação da Idade pelo Esqueleto , Cromossomos Humanos X/ultraestrutura , Nanismo/etiologia , Feminino , Humanos , Isocromossomos , Cariotipagem , Mali/epidemiologia , Fenótipo , Prevalência , Síndrome de Turner/complicações , Síndrome de Turner/epidemiologia , Síndrome de Turner/genética
20.
J Coll Physicians Surg Pak ; 28(11): 840-843, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30369375

RESUMO

OBJECTIVE: To analyse chromosomal abnormalities of the patients who were referred for the screening of short stature and delayed puberty and to verify the association between karyotype and phenotype in confirmed Turner Syndrome (TS) patients. STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: Department of Pediatric Endocrinology and Diabetes Unit-II, National Institute of Child Health, Karachi, from January 2011 to June 2016. METHODOLOGY: Patients referred for the evaluation of short stature or delayed puberty were for the assessment of karyotype and phenotype correlations; standard karyotyping was executed and analysed on the basis of routine G-banding technique. Echocardiography and pelvic ultrasonography was also performed. RESULTS: The study population consisted of 79 registered patients, with short stature and delayed puberty 48/79 (60.75%), short stature 68/79 (86.07%), and ambiguous genitalia 5/79 (6.32%). Conferring to the karyotype analysis, classical Turner Syndrome 45, X was found in 42/79 (53.16%), isochromosomes 13/79 (16.45%), and mosaicism was present in 11/79 (14.1%). Only 7/79 (8.86%) cases were diagnosed in infancy. CONCLUSION: The results of the study showed the consistency of short stature and delayed puberty in most of patients. Monosomy of X chromosome was the commonest followed by isochromosomes, mosaicism and structural abnormalities of X chromosome. No remarkable difference was found among classical and non-classical TS patients' height.


Assuntos
Estatura , Transtornos Cromossômicos/diagnóstico , Síndrome de Turner/diagnóstico , Adolescente , Criança , Pré-Escolar , Transtornos Cromossômicos/genética , Cromossomos Humanos X , Ecocardiografia , Feminino , Humanos , Lactente , Recém-Nascido , Cariótipo , Cariotipagem , Mosaicismo , Paquistão , Fenótipo , Síndrome de Turner/genética
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