Abstract

Abstract Background: Aromatase and P450 oxidoreductase deficiencies are disorders of steroidogenesis, with a phenotypic spectrum ranging from ambiguous genitalia to Antley–Bixler syndrome. The aromatase complex affects estrogen synthesis and androgen metabolism and maintains the balance of the androgen–estrogen ratio in different tissues. Due to a lack of aromatase, high levels of ovarian androgens and gonadotropins facilitate ovarian cyst formation. Case: A 16-year-old patient was admitted to a clinic with acute lower abdominal and pelvic pain. Her menarche had occurred at 12 years of age and continued with irregular menses. She had partial labial fusion and clitoromegaly (Prader classification 2), with Tanner stage 3 pubertal development. A pelvic ultrasound showed enlarged and multicystic ovaries on both sides, with torsion of the right ovary. Laboratory investigations of marker levels revealed high follicle-stimulating hormone (31.28 mIU/mL; normal range: 1.7–7.7 mIU/mL), high luteinizing hormone (32....

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