Small cohorts

Women presenting with primary amenorrhea were enrolled in the study from the Endocrinological Gynecology Unit of the Hospital Clinic of Barcelona in Barcelona, Spain. TS and OCH were diagnosed based on American Society of Reproductive Medicine criteria. Enrollees consisted of 26 women with TS and 21 women with OCH; of the latter group 7 had pure gonadal dysgenesis and 14 had some form of idiopathic hypogonadotropic hypogonadism, including Kallmann syndrome. Finally, 41 age-matched controls were enrolled.

Participants were asked to complete the Medical Outcome Study Short Form-36 (SF-36), and those who identified themselves as sexually active also completed the Female Sexual Function Index (FSFI). Age, height, weight, age at diagnosis, age at spontaneous menarche, age at initiation of hormone replacement therapy, sexual activity, comorbidities, and the presence of a stable partner were documented for all subjects. Among women with TS, the presence of dysmorphic features and TS-associated comorbidities were detailed.

TS vs OCH

As measured by the SF-36, women with TS had significantly lower scores on physical functioning and role physical functioning scales when compared with controls. To assess physical functioning, patients were asked if they were able to carry out certain activities, such as whether they could walk a mile. The level of difficulty involved in performing physical activities was used to gauge role physical functioning. Women with OCH reported significantly worse physical functioning and bodily pain compared to controls. No differences were noted in mental functioning between TS and the control group. Similarly, no disparities were found on physical or mental summary measures between the TS and OCH groups.

Data from the FSFI questionnaire indicated that patients with TS reported significantly less satisfying arousal outcomes as compared to the control group. Interestingly, women with OCH had significantly lower scores in arousal, orgasm, and pain when compared with the control group; the total FSFI score was also significantly lower. While women with OCH reported less lubrication, this measure did not reach significance. No significant differences in scores for the FSFI qualities were identified between the TS and OCH groups.

Start estrogen early

Previously published studies have reported no difference in health-related QoL between women with TS and controls, but this study demonstrated lower scores in the physical functioning and role physical functioning scales of the SF-36. No differences in SF-36 scores existed based on the presence of dysmorphic features in participants with TS. An improved self-concept was noted in women with TS who started estrogen treatment earlier than age 14 years.

Fifty percent of TS patients reported sexual activity and, as measured on the FSFI, their sexual functioning was similar to controls. However, participants with OCH had lower scores on multiple domains of the FSFI when compared with controls.

In this study, interesting differences were identified between participants with TS and OCH, with the latter experiencing lower scores on multiple domains of the FSFI, as well as increased bodily pain on the SF-36. The women in this study with OCH were diagnosed at an average age of 18.4 years ± 10.2, while women with TS were diagnosed earlier, at an average age of 11.1 years ± 10.1. Perhaps earlier diagnosis, counseling, and initiation of hormone replacement would make a difference in sexual functioning. Journal Club members thought these areas deserved additional investigation.

The effect of initiation of estrogen replacement by age 14 years, and subsequently, the inherent importance of early diagnosis of a congenital hypogonadism, was stressed for health-related QoL and for lifetime sexual function. In addition, this study reinforces that physicians and other health-care professionals must assess sexual function as part of routine care for women with TS and OCH.

Journal Club participants agreed that evidence-based best practices must be developed for treatment of women with congenital hypogonadisms to maximize their QoL and sexual function. This research by Ros and colleagues takes a valuable step in that direction. While limited by its small sample size, it raises important questions that will hopefully direct future research.