Fertility in Non-Classic Lipoid CAH: A Case Report and Review of the Literature.

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.