Clinical characteristics of 104 children referred for evaluation of precocious puberty.

There is controversy over the age of onset of puberty in normal children and the risk of missing pathology if the recently proposed revised age guidelines for referring patients are followed. However, there is little recently published information on the frequency of different diagnoses in children referred for signs of early puberty. The purposes of this study were 1) to analyze the spectrum of diagnoses made in a consecutive group of children referred to a single clinician for signs of early puberty; 2) to see whether certain patient groups were more likely to be obese; and 3) to estimate the incidence of endocrine pathology in this sample. The charts of all children referred to the author for evaluation of signs of early puberty between October 1999 and October 2002 were reviewed. Criteria were developed to assign patients to one of seven diagnostic categories based on age, growth, and clinical findings, and differences from the population mean for height and percentage of ideal body weight in the different groups were determined. Most of the patients referred (87%) were female, and the two most common diagnoses made were premature adrenarche (46%) and premature thelarche (18%). Only 9% (all girls) were thought to have true precocious puberty. Two conditions not well described in the literature, pubic hair of infancy and premature menses, were found in 8 and 5%, respectively. Patients with premature adrenarche were significantly taller and more overweight than the general population; a subgroup had evidence of accelerated growth and bone maturation but no worrisome endocrine findings. Acanthosis nigricans was found in 13% of the girls in this study, but the incidence of true endocrine pathology was very low. The majority of children being referred for precocious puberty have benign normal variants, with a very low incidence of endocrine pathology. Most girls presenting with minimal breast or pubic hair development and normal growth velocity may be managed with observation and without a full endocrine evaluation.