Premature ovarian insufficiency: a toolkit for the primary care physician

Abstract

Premature ovarian insufficiency (POI) refers to the loss of ovarian activity before the age of 40 years, which leads to hypoestrogenism and amenorrhea. The diagnosis of POI in a young woman has potentially life-changing physical and emotional consequences for both the patient and her family. Therefore, it is very important that the diagnosis is correct and that it is made in a timely manner. Unfortunately, the diagnosis and therefore the effective treatment of POI are often delayed, which underlines the need for education of the broad medical community on the issue. A panel of menopause experts reviewed and critically appraised the literature, and present: (1) the diagnostic approach to POI, (2) the investigation of the etiology of this condition, (3) the therapeutic strategy regarding both hormone replacement therapy and fertility, and (4) the long-term follow-up and management for ensuring quality of life, as well as urogenital, cardiovascular, bone and mental health. The ultimate goal of this article is to provide a complete toolkit for the primary care physician to have easy access to all the information needed for the optimal management of women with POI, in the context of evidence-based and personalized medicine.

HIGHLIGHTS

• Premature ovarian insufficiency occurs in 1% of the female population of reproductive age, yet the diagnosis is often delayed, with severe physical and emotional consequences for the patient.

• Primary care physicians should be aware of the possibility of premature ovarian insufficiency in young women presenting with menstrual irregularity.

• Prompt initiation of hormone replacement therapy ensures quality of life and prevents osteoporosis and cardiovascular disease.

• Women seeking fertility should be referred to specialists to discuss assisted reproduction options.

早发性卵巢功能不全：初级保健医生的工具包 摘要

早发性卵巢功能不全（Premature ovarian insufficiency, POI）指的是40岁前卵巢活动丧失, 导致雌激素减少和闭经。年轻女性被诊断为POI可能会对患者及其家人产生潜在的身体和情感改变的后果。因此, 正确和及时的诊断是非常重要的。不幸的是, POI的诊断和有效治疗往往被推迟, 这突显了广大医学界在这一问题上进行教育的必要性。一个绝经专家组回顾和批判性地评价了这些文献, 提出了：（1）POI的诊断方法, （2）POI的病因调查, （3）关于激素替代疗法和生育的治疗策略, 以及（4）确保生活质量以及泌尿生殖、心血管、骨骼和心理健康的长期随访和管理。本文的最终目标是为初级保健医生提供一个完整的工具包, 以便在循证和个性化医学的背景下, 轻松获得对POI女性患者进行最佳管理所需的所有信息。

亮点

• 早发性卵巢功能不全发生在1%的育龄期女性中, 但诊断往往被推迟, 给患者带来严重的身体和情感结局。

• 初级保健医生应意识到出现月经不规律的年轻女性发生早发性卵巢功能不全的可能性。

• 迅速开始激素替代治疗可确保生活质量, 预防骨质疏松症和心血管疾病。

• 寻求生育力的女性应该咨询专家, 讨论辅助生殖方法。

Keywords:

• Premature ovarian insufficiency
• hormone replacement therapy
• quality of life
• urogenital health
• mental health
• cardiovascular disease
• osteoporosis

Authors’ contributions

All authors participated in the writing of the manuscript. The project was coordinated by Irene Lambrinoudaki. All authors read and approved the final version of the manuscript.

Provenance and peer review

Peer review was directed by Professor Tommaso Simoncini independently of Irene Lambrinoudaki, an author and Maturitas editor, who was blinded to the process.

Potential conflict of interest

Irene Lambrinoudaki: none declared. Stavroula Α. Paschou: none declared. Mary Ann Lumsden: Prof. Lumsden has served as ad hoc advisor to Novo Nordisk and Roche Diagnostics. Stephanie Faubion: none declared. Evangelos Makrakis: none declared. Sophia Kalantaridou: none declared. Nick Panay: Dr Panay has lectured and/or acted in an advisory capacity for Abbott, Besins, Lawley, Kora, Mithra, Mylan, Novo Nordisk, Roche Diagnostics, SeCur, Shionogi, and Theramex.

Source of funding

No funding was received for the preparation of this article.