Hyperreactio luteinalis and follicle-stimulating hormone receptor gene activation mutations: A case report

黄体过度反应和卵泡刺激素受体基因激活突变:病例报告

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Abstract

INTRODUCTION AND IMPORTANCE: Spontaneous ovarian luteal hyperfunction after pregnancy is associated with activating mutations in the follicle-stimulating hormone receptor gene, and clarification of the etiology can help with subsequent treatment. PRESENTATION OF CASE: A 32-year-old woman presented with enlarged ovaries and bilateral ovarian polycystic echoes at 12 weeks of both pregnancies. The first pregnancy underwent transabdominal bilateral ovarian aspiration at 17 weeks and was spontaneously aborted 4 days after the procedure. After the discovery of bilateral ovarian polycystic echoes in the second pregnancy, genetic testing suggested the presence of activating mutations in the follicle-stimulating hormone receptor (FSHR) gene, resulting in ovarian luteinization, and the patient's condition was stabilized after conservative treatment. CLINICAL DISCUSSION: Ovarian luteal hyperfunction may be associated with hyperandrogenemia, thyroid-stimulating hormone abnormalities, abnormal testosterone levels, and genetic mutations. When ovarian luteal hyperfunction occurs, it is recommended to search for the etiology and treat the symptoms. CONCLUSION: Patients presenting with spontaneous ovarian hyperlutealization should be operated on cautiously, treated conservatively, closely observed, and managed for complications, and genetic testing should be performed to clarify the etiology if necessary.

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