From the Guidelines
Premature ovarian insufficiency (POI) workup should begin with confirming the diagnosis through hormone testing, including follicle-stimulating hormone (FSH), estradiol, and anti-Müllerian hormone (AMH), as recommended by the European Society of Human Reproduction and Embryology (ESHRE) guideline 1. The diagnosis of POI is defined as the combination of oligo/amenorrhea and raised FSH levels within the menopausal range, recorded at least twice four weeks apart, in patients younger than 40 years 1.
Initial Assessment
The initial assessment includes:
- Diagnosis: confirming the diagnosis through hormone testing, including FSH, estradiol, and AMH
- Assessment of causation: identifying the underlying cause of POI, such as chemotherapy, radiotherapy, or genetic disorders
- Basic assessment: evaluating the patient's overall health and identifying any associated conditions
Additional Testing
Additional testing should include:
- Thyroid function tests (TSH, free T4) to rule out hypothyroidism
- Prolactin levels to rule out hyperprolactinemia
- Karyotype analysis to detect chromosomal abnormalities
- FMR1 gene testing for fragile X premutation
- Adrenal antibodies to rule out autoimmune causes
- Pelvic ultrasound to assess ovarian size and follicle count
- Bone density testing to evaluate the risk of osteoporosis
Management
Management of POI typically involves hormone replacement therapy (HRT) to reduce the risk of osteoporosis, cardiovascular diseases, and urogenital atrophy, and to improve the quality of life of women with POI 1. The choice of HRT regimen depends on various factors, including the patient's age, medical history, and personal preferences.
- For post-pubertal adolescents and young women with iatrogenic POI, a systematic approach to HRT is recommended, taking into account the need for contraception, withdrawal bleeding, and the patient's demographic, clinical, and psychological profile 1.
- The treatment protocol should be individualized and may include transdermal 17β-estradiol, oral or vaginal progesterone, and combined oral contraceptives.
Psychological Support
Psychological support should be offered to patients with POI, as the diagnosis can cause significant emotional distress, particularly regarding fertility implications. A multidisciplinary team approach, including gynecologists, pediatricians, endocrinologists, dietitians, and psychologists, is recommended to provide comprehensive care and support to patients with POI 1.
From the Research
Diagnostic Approach
The workup for premature ovarian insufficiency (POI) involves a combination of clinical and biological criteria, including:
- Primary or secondary amenorrhea or spaniomenorrhea of >4 months with onset before 40 years of age 2
- Elevated follicle-stimulating hormone (FSH) >25 IU/L on 2 assays at >4 weeks' interval 2
- Low estradiol level and collapsed anti-Müllerian hormone (AMH) levels 2
Etiological Workup
The initial etiological workup for POI comprises:
- Auto-immune assessment 2
- Karyotype analysis 2
- FMR1 premutation screening 2
- Gene-panel study 2
- Genome-wide analysis may be offered if all initial tests are normal 2
Management
The management of POI includes:
- Hormone replacement therapy (HRT) to reduce the intensity of vasomotor symptoms and have a beneficial effect on the central nervous, skeletal, cardiovascular, and urinary-reproductive systems 3, 4
- HRT should be continued until the mean age of menopause in a given population 3 or at least up to the physiological menopause age of 51 years 2
- Transdermal oestradiol and oral or vaginal progesterone administration provide the most physiological sex steroid replacement therapy 4
- Women with POI should be managed by a multidisciplinary team, such as a gynaecologist, endocrinologist, dietitian, and psychologist 4
Fertility Options
Women with POI seeking fertility should be referred to specialists to discuss assisted reproduction options, such as ovum donation 5, 6