Presentación de una paciente con diagnóstico de mosaico Turner y embarazo / Presentation of a Patient with Mosaic Turner´s Syndrome and Pregnancy

La constitución cromosómica más frecuente es el síndrome de Turner 45 X, pero también se han descrito algunas variantes de esta, como el mosaico Turner con fórmula XX/X0. En la literatura se plantea que su aparición impide el logro del embarazo, porque produce con frecuencia una alta incidencia de esterilidad. Se presenta una paciente de 22 años, con historia de discapacidad intelectual ligera, que en el estudio de retraso mental y discapacidad que se realizó en 2002, y con 13 años, se le diagnosticó mosaico Turner con cariograma 46XX/45X. Se siguió en Consulta de Genética Clínica hasta los 21 años cuando se determinó que se encontraba embarazada. Se le realizó un diagnóstico prenatal citogenético y se obtuvo en 15 metafases de cariotipo fetal 46, XY un varón cromosómicamente normal.

The Turner syndrome 45, X is the most frequent chromosomal constitution, but there are also some variants of this, as mosaic Turner XX/X0. The literature shows that women with these diseases rarely conceive, because of the high incidence of sterility. The aim of this paper is to present a 22- year- old patient with a history of mild intellectual disability, who was diagnosed with mosaic karyotype 46XX/45X0 when the patient was 13 years old. The patient was assissted at Clinical Genetics Consultation and at 21 years, a pregnancy was diagnosed.

Infarto agudo do miocárdio em jovem com síndrome de Turner / Acute myocardial infarction in a young with Turner?s syndrome

A Síndrome de Turner (ST) é uma doença genéticacaracterizada pela monossomia completa ou parcial docromossomo X e possui uma grande variabilidade fenotípica,podendo se manifestar na forma clássica oucom poucos sinais dismórficos que possam chamaratenção ao diagnóstico. Mulheres com Síndrome deTurner têm um risco cardiovascular duas vezes maiorque a população geral e apresentam maior prevalênciade hipertensão arterial sistêmica, dislipidemia, aumentoda resistência insulínica e deficiência estrogênica,além de doenças cardíacas congênitas, principalmenteacometendo grandes vasos, podendo estar presenteem até 50% das mulheres com ST. Devido a essas complicaçõescardiovasculares, o reconhecimento de possíveismanifestações cardíacas agudas em pacientescom anomalias genéticas torna-se imprescindível parao sucesso terapêutico. O objetivo do presente artigo édescrever um caso de infarto agudo do miocárdio emuma paciente jovem com Síndrome de Turner.

Turner?s syndrome is a genetic disease related eitherto a homogeneous complete or a partial XO monosomyand has a fenotipic variability, presenting suchin a classic syndrome or with few dysmorfic signs thatcan draw attention to diagnosis. Womem with Turner?ssyndrome have a cardiovascular risk twice higher thangeneral population and presents more prevalence inhypertension, dyslipidemia, insulin resistence and estrogendeficiency, besides cardiac congenital cardiacdiseases, mainly affecting big vassels, in approximately50% of these patients. Due to these cardiovascularcomplications, recognition of possible acute cardiacmanifestations in patients with genetic abnormalities isnecessary to therapeutic success. The goal of this articleis to present a case report of a young woman with AMIand Turner syndrome.

Perfil lipídico en un grupo de pacientes con síndrome de Turner en la clínica Universitaria Bolivariana de laciudad de Medellín entre los años 2000-2009 / Lipid profile in a group of patients with Turner’s syndrome at clínica Universitaria Bolivariana in the Medellín city between 2000 and 2009

Introduction: Turner syndrome patients can present lipid profile alterations, which associated with obesity, frequent in these patients, causes increased cardiovascular risk, lowering their life expectancy. This research evaluates lipid profiles of patients with Turner syndrome between 2000 and 2009 and these are associated to the karyotype and other risk factors for coronary disease.Objective: To describe the lipid profile and other cardiovascular risk factors in a group of girls with Turner syndrome.Methods: This is a descriptive and retrospective study, which evaluated the clinical records of 21 girls with Turner syndrome. We sought metabolic risk factors for coronary disease such as lipid profile, weight, body mass index, and blood pressure.Results: Age at time of diagnostics ranged between 8 months to 17 years, four patients were below 10 years of age and 17 patients were over 11 years of age. The karyotype revealed: 57.3% with 45x monosomy, 33% with 46xx-45x mosaicism, and 9.5% with 46x-qx mosaicism. None of the patients was obese; the total cholesterol levels ranged from 116 mg/dl to 225 mg/dl with a mean of 168.7. When these patients were grouped by age, we found that 25% of those younger than 10 years of age had high levels of cholesterol vs. 58.8% for those over 10 years of age. Regarding the karyotype of the six patients with 46xx-45x karyotype, five (71.4%) presented hypercholesterolemia; 95.2% of the patients were normotensive.Discussion: This research revealed Turner syndrome patients present lipid profile alterations at early ages.Conclusion: It is important to include in the follow up protocol in these patients the lipid profile control and, thus, be able to conduct early interventions to improve their quality of life.

Introducción: Las pacientes con síndrome de Turner (ST) pueden presentar alteraciones en el perfil lipídico, lo que, asociado con la obesidad, frecuente en estas pacientes, produce un aumento del riesgo cardiovascular y reduce su esperanza de vida. En este estudio se evalúan los niveles de perfil lipídico en pacientes con ST entre 2000-2009, y se asocia con el cariotipo y otros factores de riesgo para enfermedad coronaria.Objetivos: Describir el perfil lipídico en un grupo de niñas con ST y otros factores de riesgo cardiovascular. Metodología: Estudio descriptivo, retrospectivo, en el que se evaluaron las historias clínicas de 21 niñas con ST. Se buscaron factores de riesgo metabólico para enfermedad coronaria tales como perfil lipídico, peso, índice de masa corporal y cifras de presión arterial.Resultados: En el momento del diagnóstico la edad osciló entre los 8 meses y 17 años; cuatro pacientes eran menores de 10 años y 17 mayores de 11 años. El cariotipo fue: 57.3% con monosomía 45x, 33% mosaicismo 46xx-45x y 9.5% mosaicismo 46x-qx. Ninguna paciente presentó obesidad; los niveles de colesterol total oscilaron entre 116 mg/dl-225 mg/dl con una media de 168.7. Al agrupar estas pacientes por edad, se encontró que 25% de las menores de 10 años tenían niveles altos de colesterol vs. 58.8% de las mayores de 10 años. En relación con el cariotipo de las 6 pacientes con cariotipo 46xx-45x, 5 (71.4%) presentaron hipercolesterolemia; 95.2% eran normotensas. Discusión: Este estudio demostró que las pacientes con ST presentan alteración en su perfil lipídico desde edades tempranas.Conclusión: Es importante incluir en el protocolo de seguimiento de estas pacientes el control del perfil lipídico y así poder realizar intervenciones tempranas y poder mejorar su calidad de vida.

3 Cases of Spontaneous Pregnancies and Deliveries in Turner's syndrome / 대한산부인과학회잡지

Spontaneous pregnancy in Turner's syndrome is very rare because of ovarian dysgenesis and subsequent streak gonads. Recently we experienced 3 cases of pregnancies and deliveries in Turner's syndrome, so we report with a brief review of literature.