Endocrine Abstracts

Background: Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder (1:4′000-10′000) characterized by absent puberty and infertility. There is striking gender discordance (3–4 males for each female case) thus women with CHH are the “rarest of the rare”. Unlike many orphan conditions, treatments are available and hormonal therapies are effective for inducing puberty and fertility. However, the presumable availability of treatment does not necessarily ensure quality of life. Therefore, we aimed to better understand the healthcare experiences and unmet needs of women with CHH to develop more patient-centered approaches to care.

Methods: We utilized a community-based participatory research approach to engage patient community leaders and develop an online survey. We then leveraged patient social media sites to reach these dispersed women. Demographics, medical history, and information on healthcare interactions were collected and patients completed three validated questionnaires to assess the relationship between illness perceptions, depressive symptoms and adherence to treatment. Descriptive statistics and comparisons to reference populations were conducted.

Results: In total, 55 women completed the survey (18–68 years, mean 35±10, median 34). Women were more likely to have been in a relationship compared to their male (n=101) counterparts (P<0.05). Roughly 1/3 of CHH patients had received fertility treatment yet women were more likely to have biologic children (80% vs. 28%, P<0.01). Notably, both sexes struggled with adherence to treatment and shared similar negative illness perceptions. Compared to community base rates, women with CHH have increased levels of moderate (9/55, 16%) and severe depressive symptoms (7/15, 13%).

Conclusions: Despite available treatment and successful fertility outcomes, patients with CHH report significant physical, psychological and social consequences as a result of their condition. They often struggle with adherence and exhibit increased depressive symptoms which negatively impact quality of life. These data underscore the importance of attending to the psychological needs of patients in addition to adequate hormonal therapy.