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

Abstract

SummaryPrimary 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 pointsA 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.

Chemoprotective effects of plasma derived from mice of different ages and genders on ovarian failure after cyclophosphamide treatment

“…POF, occurring in about 1% of women 30-40 years old, leads to some complications including infertility and osteoporosis [1]. The underlying causes of POF may be genetic disorders such as Fragile X syndrome, Turner syndrome, autoimmune diseases, or exposure to toxins such as viruses, cigarette smoke, radiation therapy or chemotherapy [2][3][4]. Cyclophosphamide (CYC), as an alkylating agent, is one of the most common and effective chemotherapy drugs used to treat some diseases like Addison disease, systemic lupus erythematosus, systemic sclerosis, thyroiditis, vasculitis, and different types of cancer [5][6][7].…”

Does the Value of FSH Predict Severity of Metabolic Complications in Females with POI?

“…POI development may be credited to several pathogenic (e.g., genetic, iatrogenic, and metabolic) factors, but we only focused on spontaneous POI in karyotypically normal women. Firstly, the available data indicate that idiopathic POI may account for 65% of cases [ 24 ]. Additionally, there is evidence that an abnormal karyotype can also influence serum lipid levels [ 25 ].…”

Relato de caso – gestação espontânea em paciente com falência ovariana precoce

“…3 A incidência de FOP é de 1% para mulheres abaixo de 40 anos, 0,1% para mulheres com menos de 30 anos e 0,01% em pacientes com menos de 20 anos. 4,5 O diagnóstico precoce é de extrema importância para a saúde feminina, pois as comorbidades associadas são várias, incluindo infertilidade, aumento do risco cardiovascular, osteoporose e desordens neurocognitivas. 6 Em cerca de 75% a 90% dos casos a etiologia é desconhecida, sendo denominada idiopática.…”

“…6,7 Não há consenso para o diagnóstico de FOP em pacientes jovens, o que pode atrasar o diagnóstico precoce. 4 A apresentação variável, refletindo a flutuação da função ovariana também pode atrasar o diagnóstico. A avaliação deve começar com anamnese e exame físico detalhados, incluindo avaliação de androgenização com escala de Ferriman e índice de massa corporal (IMC).…”

“…A reposição hormonal deve ser mantida até a idade média em que ocorre a menopausa, que é em torno de cinquenta anos. 4,9…”