Abstract
Introduction: Non-classic lipoid congenital adrenal hyperplasia (LCAH) presents with adrenal insufficiency but typically lacks a gonadal phenotype or features a delayed-onset gonadal presentation. Information on fertility outcomes in affected individuals is limited. Case Presentation: We describe an adult male with severe, early onset primary adrenal insufficiency, yet normal fertility, diagnosed in mid-adulthood with compound heterozygous STAR gene variants, including both known and novel mutations. The identified variants, c.814C>T (p.Arg272Cys) and c.743A>C (p.Lys248Thr), underwent structural and functional analysis, revealing partial enzymatic activity. A review of existing reports on the gonadal phenotype and fertility in non-classic LCAH identified only nine adult males. Among these, five exhibited normal gonadal function, but none had documented paternity. Conclusion:STAR variants may be present in adults with unresolved primary adrenal insufficiency and normal gonadal function. Infertility is not an inevitable outcome, as demonstrated by this case.
Journal Section:
Novel Insights from Clinical Practice
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