Clinical characteristics of children referred for signs of early puberty before age 3.

Background: Signs of puberty in very young children are often benign, but the evaluation needed and follow-up are controversial.

Objectives: The study had three objectives: 1) to analyze the frequency of diagnoses in children <3 years referred for early puberty; 2) to examine the usefulness of lab testing; and 3) to identify red flags indicating a more serious diagnosis.

Methods: Charts of all children younger than age 3 referred for early puberty between 7/09 and 6/13 were reviewed.

Results: Of 275 patients, 156 (57%) were diagnosed with premature thelarche (PT), 69 (25%; 56 F/13M) with genital hair of infancy (GHI) and 37 (13%, all F) with both (GHI/PT). Six patients had axillary odor only. Four patients had more serious diagnoses, one each with congenital adrenal hyperplasia (CAH), non-classical CAH, McCune-Albright syndrome and central precocious puberty (CPP). Diagnoses did not change in those who returned for follow-up. Hormone tests revealed that none of the PT patients had elevation of both luteinizing hormone (LH) and estradiol, and half of the GHI patients tested had mildly elevated DHEA-S but normal testosterone and 17-OH progesterone.

Conclusions: Very few children referred for puberty at <3 years appear to have a serious underlying diagnosis, and progression of PT to CPP was not identified in this series. Hormone testing is unlikely to be helpful in typical cases of PT, GHI or both, and many such cases may be followed in the primary care setting after initial clinical evaluation.