Cooper Oluwatosin O, Quint Elisabeth H, Smith Yolanda R, Dendrinos Melina L
Academy for Teaching and Learning, Ross University School of Medicine, Miramar, Florida.
Department of Obstetrics & Gynecology, University of Michigan, Ann Arbor, Michigan.
J Pediatr Adolesc Gynecol. 2025 Jun 6. doi: 10.1016/j.jpag.2025.06.002.
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.
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.
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.
在40岁以下的个体中，促卵泡生成素（FSH）水平升高且雌二醇水平降低的继发性闭经通常被诊断为原发性卵巢功能不全（POI）。抗苗勒管激素（AMH）水平降低支持POI的诊断，但AMH水平正常则需要进一步评估。
一名19岁女性，12岁初潮，14.5岁时出现继发性闭经。初步评估显示促性腺激素升高和雌二醇降低，复查结果证实了这一点。核型正常，无FMR1重复扩增，自身免疫标志物阴性，AMH水平正常。基因检测发现两个高度怀疑具有致病性的促卵泡生成素受体（FSHR）基因变异。
FSHR基因的致病性变异是继发性闭经的罕见原因。AMH水平正常的非典型POI病例应进行遗传咨询评估。
