Does having Turner syndrome affect quality of life in Brazilian women compared to common population?

ABSTRACT Objectives We aimed to measure the quality of life (QoL) of patients with Turner syndrome (PTS) and determine the extent to which their clinical or laboratory alterations influence QoL compared to reference women (RW) of the same age range. Subjects and methods From Dec-2013 to Dec-2014, 90 participants were recruited. They were 18 years and older: 48 with Turner syndrome (TS) (PTS) and 42 without (RW). Recruited subjects completed the Portuguese version of Short Form 36 (SF-36) questionnaire, and blood was drawn to measure LH, FSH, oestradiol (E2), progesterone (P4), SHBG, and SDHEA (by ECLIA) and testosterone (by LC MS/MS). Results Age and schooling were similar between groups. The most common occupations for PTS were health worker, administration and education, and health worker or cashier for RW. Most participants were Catholic or Evangelical. Eighty-one percent (39/48) of cases used Hormonal Replacement Therapy (HRT), mostly transdermal (23/39). RW and PTS scored similarly on the SF-36 questionnaire. RW had higher oestradiol (p = 0,01), lower FSH (p = 0,01) and higher testosterone (p = 0,01) than PTS. Concentrations of P4, LH, SHBG or SDHEA were similar. Significant associations were found among QoL and hormones (E2 with Vitality and LH with Physical Role) only in the PTS group. Conclusions PTS do not consider that TS affects their QoL as measured by domains on the SF-36. Oestradiol was related with QoL, emphasising the importance of HRT.

The cytogenetic examination as a tool for the diagnosis of chromosomal disorders / Examinación citogenética como herramienta para el diagnóstico de los desórdenes cromosómicos

Clinically significant chromosomal abnormalities occur in about 1 percent of children born alive. The objective of this work was to offer the patients and the families in the community for the service of the Integrated Clinic of Uniara Health (Araraquara and region), the examination of cariotype (cytogenetic study) for confirmation or exclusion of the diagnostic suspicion of chromosomal abnormalities as well as information (genetic counseling) for the prevention of occurrence and/or recurrence of these anomalies. In the period of one year and four months these were carried out in the Integrated Clinic of Uniara Health and directed for the Laboratory of Cytogenetic Human of the same institution in 66 cytogenetic studies. In 44 patients (66.6 percent) the results were normal. In 22 (33.3 percent) examinations, alterations were found, meaning that the respective clinical pictures are decurrent of chromosomic alterations. The first cause within alterations noted was Down syndrome with a total of 15 examinations or 68.1 percent, the second cause of chromosomal anomaly was the Turner syndrome where the most important factor is 45, X, where 2 karyotypes of this type or 9.1 percent were found, syndromes as (Eduards syndrome, Patau syndrome, 3p- syndrome, 4p- syndrome and 6p-syndrome) diagnosed in our laboratory appeared less frequently corresponding to 22.7 percent of the studied anomalies. The work carried out constitutes a necessary diagnosis of the main chromosomal abnormalities through a low cost technique; it can be carried out easily and is reliable, making the cytogenetic examination available to the community and contributing significantly to the quality of life of patients.

Las anormalidades cromosómicas, clínicamente significativas, se presentan en aproximadamente 1 por ciento de los niños nacidos vivos. Este trabajo tiene el objetivo de ofrecer a los pacientes y /o a sus familiares el servicio de la Clínica Integrada de la Salud de Uniara (Araraquara y Región), el examen de cariotipo (estudio citogenético) para la confirmación o la exclusión de sospecha de anomalías cromosomales diagnosticadas, así como otorgar información (consejo genético) para la prevención de las posibles anomalías y /o la repetición de éstas. En un año y cuatro meses fueron realizados 66 estudios de citogenética en la Clínica Integrada de Uniara, dirigida por el Laboratorio de Citogenética Humana de la misma institución. En 44 pacientes (66,6 por ciento) los resultados fueron normales. En 22 (33,3 por ciento) de los exámenes, se encontraron alteraciones, compatibles con alteraciones cromosómicas. La primera causa de anomalías cromosómica fue el síndrome de Down, totalizando 15 exámenes (68,1 por ciento), la segunda causa fue el síndrome de Turner, con dos cariotipos (9,1 por ciento) en la forma más importante 45, X. Por otra parte, se encontró que los síndromes de Eduards, de Patau, 3p-síndrome de Down, síndrome 4p-6p, diagnosticados en nuestro laboratorio, presentaban baja frecuencia de aparición, representando el 22,7 por ciento de las anomalías estudiadas. Este trabajo permitió realizar un diagnóstico preciso de las anomalías cromosomales, principalmente a través de una técnica de bajo costo, fácil ejecución y buena confiabilidad, técnicas que están disponibles para el examen citogenético para la comunidad y así contribuir de manera significativa en la calidad de vida de los pacientes.

Mosaicismo tuner 45XO/XY: diagnóstico diferencial con disgenesia gonadal mixta / Turner Mosaicism 45XO/XY: differential diagnostic with mixed gonadal dysgenesis

Se presenta el caso de una paciente de 14 años y ocho meses, referida a la consulta por presentar amenorrea, talla baja y estigmas turnerianos al examen físico. El cariotipo realizado en sangre periférica y gónadas, así como el perfil endocrinológico y el resultado histopatológico de las gónadas fueron fundamentales para establecer el diagnóstico diferencial con disgenesia gonadal mixta. Se indicó terapia de reemplazo hormonal con estrógenos equinos conjugados presentando buena evolución clínica