Endocrine Abstracts

JOINT2484

Introduction: Secondary amenorrhea is a relatively common health issue during reproductive years. Besides pregnancy, most common causes include polycystic ovary syndrome, premature ovarian insufficiency (POI), and hyperprolactinemia. POI affects approximately one in 100 females. Although most cases are idiopathic, FMR1 gene mutations should be sought in these patients due to the risk of X-fragile syndrome in future generations.

Case report: A 41-year-old female patient was initially referred to the Endocrinology Department at the age of 33 years due to bilateral galactorrhoea and elevated prolactin, which began two years postpartum (at 30 years), associated with oligomenorrhea. She was evaluated at a private consult and a short cycle of bromocriptine was done, with clinical resolution of the galactorrhoea. No analytical work-up from that period was available. At 31 years, she became pregnant again, but galactorrhoea returned one year postpartum. Testing showed a prolactin level of 95.45 ng/ml, but interpretation of the hypothalamic–pituitary–gonadal axis was limited by ongoing combined oral contraceptive (COC) use. Pituitary magnetic resonance (MRI) revealed a 5 mm lesion, suggesting a microadenoma. Upon referral, the patient was on COC and reported resolved galactorrhoea. She maintained clinical, analytical and imagiological vigilance. Stable imaging and no prolactin rise (maximum: 79.22 ng/ml) were seen during follow-up. At 38 years, after stopping COC, she developed secondary amenorrhea and hot flashes. Testing confirmed hypergonadotropic hypogonadism, with normal prolactin and thyroid function. Negative adrenal and thyroid autoantibodies, along with a normal karyotype, prompted FMR1 gene analysis, revealing a premutation with 70 CGG repeats—consistent with Fragile X-associated POI. The patient is currently on COC for contraceptive efficacy and awaits genetic counseling.

Conclusion: POI is a pathologic condition associated with health risks and negative impact on quality of life. Early diagnosis and systemic hormone therapy is imperative to treat hypoestrogenism symptoms and mitigate long-term health risks as osteoporosis and cardiovascular disease.