Polycystic ovaries and adrenal insufficiency in a young pubescent female with lipoid congenital adrenal hyperplasia due to splice mutation of the StAR gene: a case report and review of the literature.

We report a case of Lipoid Congenital Adrenal Hyperplasia (LCAH) secondary to Steroidogenic Acute Regulatory (StAR) gene mutation in an adolescent female with bilateral ovarian cysts. StAR gene defects follow an autosomal recessive mode of inheritance and typically present with severe adrenal insufficiency during infancy. Both sexes can be affected equally. XY males often present with sex reversal, while XX females may develop gonadal failure later in life due to premature loss of ovarian follicles. Recently there have been reported cases of successful fertility outcomes in women with LCAH. In our case report, we describe the clinical, biochemical and molecular analysis of a 16 year-old XX adolescent female who was suspected of having LCAH upon discovery of bilateral ovarian cysts in the context of adrenal insufficiency. Examination of the StAR gene revealed a homozygous splice site mutation. The patient is currently undergoing estradiol therapy to suppress ovarian cyst formation.