Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as isolated premature thelarche.
A 19 month-old female presented with isolated premature thelarche and significantly advanced bone age. The underlying cause of this clinical presentation was found to be late-onset congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. To the author's knowledge this is the first reported case of late-onset CAH presenting as isolated premature thelarche.
Zador
Ivan
I
Department of Pediatrics, Division of Pediatric Endocrinology, Marshfield Clinic, Marshfield, WI 54449, USA. zador.ivan@marshfieldclinic.org
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis*; D001940:Breast / Q000254:growth & development; D005260:Female; D006801:Humans; D007223:Infant; D011629:Puberty, Precocious / Q000175:diagnosis*; D013255:Steroid 21-Hydroxylase / Q000378:metabolism
D013255:Steroid 21-Hydroxylase