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1.
J Womens Health (Larchmt) ; 22(3): 230-5, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23421579

RESUMO

BACKGROUND: Turner Syndrome (TS) is due to X chromosome monosomy and affects ~1 per 2500 females at birth. The major features are short stature and primary ovarian failure. Short stature and monosomy for a maternal X chromosome have been implicated in impaired functionality in adult life; however, data on adult outcomes in TS are limited. In this study we evaluated the influence of adult height and parental origin of the single X chromosome on education, employment, and marital outcomes among women with TS. METHODS: This was a cross-sectional study of 240 women (25-67 years old) with TS participating in an intramural National Institutes of Health (NIH) study. Parental origin of the single X chromosome was determined by genotyping proband and parental genomic DNA. Information on education, employment, and family status was self reported. Normative data was obtained from the U.S. Bureaus of Census and Labor and Statistics. RESULTS: Seventy percent of the TS group had a baccalaureate degree or higher, compared with 30% of U.S. women (p<0.0001). Eighty percent of the TS group was employed compared with 70% of the U.S. female population. Approximately 50% of the TS group had ever married, compared with 78% of the general female population (p<0.0001). Height and parental origin of the single normal X chromosome had no association with education, employment, or marital status. CONCLUSION: Women with TS currently achieve education and employment levels higher than the female U.S. population but are less likely to marry. Neither adult height nor parental origin of the single X chromosome influenced outcomes in education, employment, or marriage.


Assuntos
Síndrome de Turner/epidemiologia , Adulto , Idoso , Estudos Transversais , Escolaridade , Emprego , Feminino , Humanos , Pessoa de Meia-Idade , Estados Unidos
2.
Eur J Pediatr ; 172(5): 703-5, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-22923005

RESUMO

An asymptomatic young woman was discovered to have life-threatening aneurysms and dissection of the thoracic aorta during routine evaluation in a Turner syndrome (TS) study. The presence of a heart murmur and hypertension had led to diagnosis and surgical repair of an atrial septal defect at age 5 and of aortic coarctation at age 12. The diagnosis of TS was made at 16 years of age due to short stature and delayed pubertal development. She was treated with growth hormone from age 16 to 18 and with atenolol, thyroid hormone, and estrogen. She discontinued her medications and was lost to medical follow-up at age 20. Upon presenting here at age 26, she reported a very active lifestyle, including vigorous exercise and an acting career, with no symptoms of chest or back pain or shortness of breath. Cardiovascular imaging revealed aortic regurgitation, an unsuspected dissection of a severely dilated ascending aorta, and a large descending aortic aneurysm. She required surgical replacement of her aortic valve and ascending aorta, followed by endovascular repair of the descending aortic aneurysm. This patient illustrates the importance of considering the diagnosis of TS in girls with congenital aortic defects and the absolute necessity for close, expert follow-up of these patients who are at high risk for complications after surgical repair due to an underlying aortopathy, hypertension, and metabolic disorders. This patient also emphasizes the need to publicize and follow screening guidelines as there is an increasing number of patients with congenital defects who need transition to adult care.


Assuntos
Aorta Torácica/patologia , Aneurisma Aórtico/complicações , Dissecção Aórtica/complicações , Insuficiência da Valva Aórtica/complicações , Valva Aórtica/anormalidades , Síndrome de Turner/complicações , Adolescente , Adulto , Dissecção Aórtica/diagnóstico , Aneurisma Aórtico/diagnóstico , Insuficiência da Valva Aórtica/diagnóstico , Feminino , Humanos
3.
Fertil Steril ; 95(7): 2251-6, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21496813

RESUMO

OBJECTIVE: To assess fetal and maternal outcomes of pregnancies in women with Turner syndrome (TS). DESIGN: Retrospective case series. SETTING: Clinical research center. PATIENT(S): 276 adults with cytogenetically proven TS participating in an intramural natural history protocol. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Menstrual and obstetric histories, 50-cell karyotypes, and cardiovascular evaluation including aortic diameter measurements. RESULT(S): Our cohort included five women with spontaneous pregnancies and five with pregnancies using assisted reproduction (ART). All five women with spontaneous pregnancies had spontaneous puberty, despite 45,X in ≥90% of their 50-cell karyotype. Participants had a total of 13 pregnancies and 14 live births. One child had cerebral palsy; the others were chromosomally and developmentally normal. Delivery was by cesarean section in four out of seven spontaneous and six out of six ART-related pregnancies. One mother experienced preeclampsia in an ART-related twin pregnancy that required a preterm delivery; she has marked but stable aortic dilation years later. CONCLUSION(S): Approximately 2% of our study cohort experienced spontaneous pregnancies despite high-grade X monosomy, and a similar number achieved pregnancy via oocyte donation and ART. The potential for life-threatening cardiovascular complications warrants comprehensive screening before conception or single-embryo transfer, and caution regarding unintentional pregnancies for TS women.


Assuntos
Fertilidade , Técnicas de Reprodução Assistida , Síndrome de Turner/fisiopatologia , Adulto , Idoso , Análise de Variância , Paralisia Cerebral/genética , Cromossomos Humanos X , Feminino , Fertilidade/genética , Humanos , Cariotipagem , Nascido Vivo , Pessoa de Meia-Idade , Monossomia , National Institutes of Health (U.S.) , Gravidez , Complicações Cardiovasculares na Gravidez/genética , Taxa de Gravidez , Puberdade , Técnicas de Reprodução Assistida/efeitos adversos , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Síndrome de Turner/complicações , Síndrome de Turner/genética , Estados Unidos , Adulto Jovem
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