FSH Receptor Variant: An Unusual Cause of Secondary Amenorrhea
Oluwatosin O Cooper1, Elisabeth H Quint2, Yolanda R Smith2
1Academy for Teaching and Learning, Ross University School of Medicine, Miramar, Florida.
Introduction:
Secondary amenorrhea with high Follicle Stimulating Hormone (FSH) levels and low estradiol is typically diagnosed as primary ovarian insufficiency (POI) in individuals under the age of 40. Low anti-mullerian hormone (AMH) levels support the diagnosis of POI, but normal AMH levels warrant additional evaluation.
Case Presentation:
A 19-year-old female with menarche at age 12 experienced secondary amenorrhea at age 14.5. Initial evaluation showed elevated gonadotropins and low estradiol, which were confirmed on repeat testing. Normal karyotype, no FMR1 repeat expansion, negative autoimmune markers, and normal AMH levels were found. Genetic testing revealed two Follicle Stimulating Hormone Receptor (FSHR) gene variants with high suspicion of pathogenicity.
Discussion:
Pathogenic variants in the FSHR gene are an uncommon cause of secondary amenorrhea. Atypical POI cases with a normal AMH level should be evaluated with a genetic consultation.
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