Primary ovarian insufficiency: different approaches in three cases and a review of literature

Autor: Poli Mara Spritzer, Ana Marina Moreira
Jazyk: angličtina
Rok vydání: 2016
Předmět:
Zdroj: Endocrinology, Diabetes & Metabolism Case Reports
Endocrinology, Diabetes & Metabolism Case Reports, Pp 1-5 (2016)
ISSN: 2052-0573
Popis: Primary ovarian insufficiency (POI) is the condition of intermittent or permanent gonadal insufficiency that occurs in women before the age of 40. We describe three cases of POI referred to the outpatient endocrinology clinic of a university hospital. The three patients met diagnostic criteria for POI and were managed by specific approaches tailored to individualized goals. In the first case, the main concern was fertility and the reproductive prognosis. The second patient was a carrier of a common genetic cause of POI: premutation of the FMR1 gene. The third case was a patient diagnosed with a POI and established osteoporosis, a common complication of estrogen deprivation. This study reports the treatment and follow-up of these cases, with an emphasis on relevant aspects of individualized management, alongside a brief literature review. Learning points A diagnosis of POI should be considered in patients presenting with amenorrhea or irregular menses and high serum follicle-stimulating hormone (FSH) levels before age 40 years. Patients with POI without an established cause, especially in familial cases, should be tested for FMR1 mutations. Estrogen/progestin replacement therapy is indicated since diagnosis until at least the estimated age of menopause, and is the cornerstone for maintaining the good health of breast and urogenital tract and for primary or secondary osteoporosis prevention in POI. Fertility should be managed through an individualized approach based on patient possibilities, such as egg or embryo donation and ovarian cryopreservation; pregnancy can occur spontaneously in a minority of cases. Women with POI should be carefully monitored for cardiovascular risk factors. Background Primary ovarian insufficiency (POI) is a rare condition, defined as the premature cessation of menstruation before 40 years of age. The incidence is approximately 1:1000 women before age 30, 1:250 at age 35, and 1:100 at age 40 (1). POI may result from depletion of ovarian follicles, accelerated follicular damage, or follicular dysfunction leading to estrogen deprivation. Most women experience a 5-year delay in diagnosis since symptom onset (2). The etiology of POI is diverse, although almost 65% of cases are considered idiopathic. Other causes include genetic diseases (Turner’s syndrome, fragile X premutation, galactosemia, inhibin B mutations), enzyme defects (aromatase or 17,20-lyase deficiency), and autoimmunity (lymphocytic oophoritis, polyglandular autoimmune syndrome, Addison’s disease, Hashimoto’s thyroiditis, or celiac disease); POI may also be iatrogenic, secondary to chemotherapy or radiotherapy exposure (3). The clinical presentation generally involves menstrual irregularities (oligomenorrhea and amenorrhea). The absence of menarche in patients aged 15years or older (primary amenorrhea) or an absence of menses for 3months or more (secondary amenorrhea) should raise clinical suspicion of POI. These disturbances may recur intermittently for months or years until definitive amenorrhea occurs. Laboratory tests show increased follicle-stimulating hormone (FSH) levels and estradiol concentrations below the normal range for age (2, 3). Early diagnosis of POI and a reasonable understanding of its management are essential to preserve quality of life, prevent osteoporosis, and optimize fertility prognosis in these patients. We describe three women with POI, who presented to an outpatient endocrinology clinic, highlighting the importance of individualized treatment and follow-up and discussing novel and relevant aspects to the approach of POI, such as infertility, association with the fragile X premutation, and osteoporosis management.
Databáze: OpenAIRE
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