Huge ovarian cyst in a neonate with classical 21-hydroxylasedeficiency

摘要

Congenital adrenal hyperplasia is the most common cause of ambiguous genitalia worldwide,with an incidence of 1 in 15,000 live births. The most frequently-occurring subtype,21-hydroxylase deficiency, results in diminished production of aldosterone and cortisol aswell as increased androgen secretion. Previous studies have reported a relationshipbetween ovarian cyst formation and adrenal androgen excess; nevertheless, neonatal largeovarian cysts have rarely been reported in newborns with congenital adrenal hyperplasia.Herein, we present the unique case of a neonate with classical 21-hydroxylase deficiencywho underwent surgery for a huge unilateral solitary ovarian follicular cyst on theseventh postnatal day. Possible mechanisms by which androgen excess may cause ovarian cystformation are also discussed.