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.
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