Beyond hormone replacement: quality of life in women with congenital hypogonadotropic hypogonadism

Abstract

Objective: Little is known about how women with isolated GnRH deficiency cope with their condition. This study aimed to examine the health and informational needs of women with congenital hypogonadotropic hypogonadism (CHH) and evaluate if their experiences differ from women with more common forms of infertility.

Design: Cross-sectional, multiple methods study using web-based data collection to reach dispersed rare disease patients.

Methods: A community-based participatory research framework was employed to develop an online survey and collect quantitative and qualitative data. Adult women diagnosed with CHH who had received at least one year of hormonal treatment completed the Morisky Medication Adherence Scale, Revised Illness Perception Questionnaire and Zung Self-Rating Depression Scale. Information on health care experiences, treatment outcomes and patient-reported challenges were also collected.

Results: Women (n = 55) were often diagnosed late (20.7 ± 7.4, range: 10-48 years) and 16/20 patients receiving fertility treatment conceived. Poor adherence was frequently observed (34/55) while more than half (27/49) reported a gap in treatment exceeding a year. Low adherence correlated with depressive symptoms (r = 0.3, P > 0.05). Negative illness perceptions were pervasive and 30/55 exhibited some depressive symptoms - significantly greater than women with common female factor infertility (P < 0.01). Symptoms were underappreciated by providers as only 15 of 55 patients had discussions about psychological services. Women identified isolation, need for information and finding expert care as challenges to living with CHH.

Conclusions: Despite being a treatable form of female infertility, the presumable availability of treatment does not necessarily ensure adequate quality of life for women with isolated GnRH deficiency.

Keywords: Kallmann syndrome; female infertility; illness perceptions; medication adherence; patient-centered care; rare diseases.

Figure 1

Age at CHH diagnosis and self-reported adherence to treatment. (A) Age at CHH diagnosis for 55 women ranged from 10 to 48 years. The mean age at menarche for Caucasian females is shown as a horizontal line, and the shaded region depicts ± two s.d. (36). Only 11/55 women were diagnosed by age 15 years. (B) Self-reported adherence to treatment (n = 49). Approximately one-quarter of respondents reported never having a gap in treatment. In total, more than half (27/49) reported a gap in treatment of a year or longer. Similarly 20/46 women reported having a lapse in health care exceeding one year (data not shown). Age at diagnosis was moderately correlated with duration of gap in health care (r = 0.56, P < 0.001).