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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.

Citation

Ivan Zador. Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as isolated premature thelarche. Journal of pediatric endocrinology & metabolism : JPEM. 2007 Jan;20(1):87-90

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PMID: 17315534

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