Enhancing care for women with premature ovarian insufficiency: The need for multidisciplinary management and research

INTRODUCTION

Premature ovarian insufficiency (POI) is a multifactorial disorder characterized by the depletion of ovarian follicles before the age of 40 years and poses significant challenges to women’s health and fertility. The current standard diagnostic criteria for defining POI has evolved, and the current recommended definition is oligo/amenorrhea for at least 4 months, and an elevated follicle-stimulating hormone level of more than 25 IU/L on two occasions more than 4 weeks apart.^[1] The reported prevalence is 1% in general population and between 4% and 28% amongst women having amenorrhea. Higher prevalence of 3.7% is reported in medium and low Human Development Index countries and analysis of the National Family Health Survey data from India reported a higher prevalence of 5.5% in 2017.^[2] The etiology of POI can be genetic, autoimmune, or idiopathic, with smoking being a major risk factor. Women with POI experience hypoestrogenism-related symptoms such as hot flashes, vaginal dryness, mood disturbances, night sweats, and decreased sexual desire.^[3] Other clinical features such as change in skin pigmentation, dryness of mouth, premature greying of hair, and joint pain could be due to an associated autoimmune component with POI. In addition, literature has reported that women with POI are at increased risk of long-term chronic multi-morbidity associated diseases such as thyroid disorders, cardiovascular diseases, osteoporosis, and poor quality of life.^[2,4] The majority of female patients with POI present with infertility, with many being offered donor in vitro fertilization (IVF) as a primary treatment approach. Hormone replacement therapy is commonly prescribed to alleviate menopausal symptoms in these patients. Recent reported treatment modalities include simple measures such as lifestyle changes, cessation of smoking, and advanced therapies such as platelet-rich plasma therapy and in vitro activation, offer promising avenues for managing POI in women.^[5] This emphasizes the need for specialized care tailored to the individual needs.

CURRENT GUIDELINES AND MANAGEMENT PRACTICES

Over the years, efforts to improve the management of POI have been guided by clinical practice guidelines established by different organizations [Table 1]. These guidelines serve as a valuable resource for healthcare providers, offering recommendations for the diagnosis, evaluation, and treatment of women with POI. Most guidelines highlight that women with POI face heightened risks of cardiovascular disease, osteoporosis, and cognitive decline. Hormone replacement therapy is often advocated to mitigate these risks, potentially reducing the long-term likelihood of cardiovascular issues, preventing osteoporosis, and positively impacting cognitive function. In addition, adherence to a balanced diet, sufficient intake of calcium and Vitamin D, regular exercise, cessation of smoking, and moderation in alcohol consumption are commonly advised as essential lifestyle measures for managing POI.

POI CLINIC AND ITS DIMENSIONS

Despite the availability of guidelines and knowledge about associated comorbidities, the landscape of POI research and management presents significant gaps with a need for a structured model of care.^[6] Most studies reported from India are in the form of case reports, primarily focusing on evaluating either genetic or autoimmune components of POI.^[7,8] While these studies contribute to our understanding of the condition, they offer limited insights into its multidimensional nature and management. Recognizing the complexities of POI and the limitations of existing research and management approaches, a multidisciplinary clinic model has been initiated at the infertility clinic of the ICMR National Institute for Research in Reproductive and Child Health in Mumbai, which serves as a hub for integrated management and Research of POI.^[9] Staffed by a team of specialists, including gynecologists, immunologists, medical genetcists IVF specialists, social workers, and basic scientists, this clinic offers a holistic approach for POI management. With the aim of putting guidelines into practice, this model has three essential pillars, as shown in Figure 1.

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Figure 1:

Multidisciplinary model for premature ovarian insufficiency (POI) at ICMR-National Institute for Research in Reproductive and Child Health.

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The first pillar of this model focuses on the comprehensive screening, diagnosis, and evaluation of clinical symptoms associated with POI. It encompasses a meticulous assessment of various factors such as age at diagnosis, menstrual history, estrogen deficiency symptoms, and concomitant autoimmune manifestations. In addition, it involves specialized investigations such as chromosomal analysis, fragile X testing, thyroid function evaluation, and other case-specific investigations to identify genetic predispositions and associated autoimmune morbidities. Equally paramount is the provision of personalized counseling, evaluating the quality of life, and addressing the multifaceted needs of women grappling with POI. Moreover, it advocates lifestyle modifications to mitigate cardiovascular risks and emphasizes the importance of estrogen replacement therapy for preserving bone health and averting osteoporosis. Recognizing the aspirations of women seeking fertility treatment, tailored counseling regarding fertility options forms an integral part of this pillar.

The second pillar revolves around the establishment of a longitudinal cohort comprising of women diagnosed with POI, with a focus on continual monitoring and evaluation. By conducting annual follow-ups, this component aims to delineate changes in clinical features, metabolic parameters, and autoimmune profiles over time. This longitudinal perspective not only enriches our understanding of POI but also facilitates the identification of evolving therapeutic needs and prognostic markers.

The third pillar of this model involves conducting collaborative research in tandem with specialized POI clinics. One specialized interdisciplinary clinic of this kind has been reported in Canada, and with the initiation of such clinics, it hints toward a paradigm shift in addressing POI.^[10]

CONCLUSION

The initiation of this multidisciplinary care model in India marks a significant milestone in addressing the needs of women with POI. Its success could serve as a blueprint for establishing similar models across healthcare providers, thereby enhancing outcomes and improving the quality of life for women affected by POI.