Premature Telarche or Precocious Puberty


Question

I am a physician in Romania and I want to ask you about the case of 1 years and 3 months old girl who came in to my office in September 2007. She had breast development on stage 3, noticed by her mother about 6 months. I recommend: estradiol=20pg/ml, FSH=2,4mui/ml, LH=o,o . Because in Romania we don’t have access to LHRH I couldn’t practice THE stimulation test. The skeletal age had no advance And the pelvic ultrasound shows a cyst of 4mm on left ovary. I recommend to avoid food possible contaminated by estrogens and cosmeticals products and ask her to come back after 1 months.

In October 2007 she had no different on her breast, LH=0,1mui/ml, estradiol=80pg/ml, FSH=2,1mui/ml. I found a LHRH agonist (Leuprolid) and I administrated half of 3,75. The basal results were similar with the previous except the estradiol which was again 24 pg/ml. after 1 hour LH=6,7mui/ml, FSH=24mui/ml and after 24 hours LH=7,4 and FSH= 20mui/ml.

How should I interpret the results ? I have an argue with my collaborators about the diagnosis and treatment . So I need your superior opinion to decide what to do next?

Response

The problem you have been faced with, i.e. the differential diagnosis between precocious puberty and premature telarche in the first 2-3 years of life, is a very controversial one. In this age group, in fact, the hormonal findings are not so helpful in distinguishing between these two clinical entities because both baseline and stimulated gonadotropin and estradiol blood levels can be physiologically increased with values highly variable and inconstant. Therefore, what we should mostly rely on to make a diagnosis, are the clinical findings. In your specific case, there is a 1.5 yr old girl with a 6 months history of breast development, a bone age appropriate for chronologic age, pelvic US showing what presumably is a follicle normally present at this age. It is crucial to know the height velocity in the previous months, and the uterine and ovarian measurements at US. In the presence of a height velocity within normal limits in the previous 6 months, uterine and ovarian measurements appropriate for age, no other signs of pubertal development, and absence of neurological findings, I would go for a diagnosis of premature telarche and follow carefully the patient clinically. In case of precocious puberty I would expect a fast advancement of pubertal signs and ovarian and uterine dimensions, an advanced bone age, and increased height velocity. If this would be the case, I would repeat the GnRh agonist stimulation test and expect to find a further increase in LH and decrease in FSH blood levels, and perform a head MRI to rule out intracranial pathology present in 8% of girls with precocious puberty without neurological findings or neurofibromatosis (Chalumeau, M., et al., Selecting girls with precocious puberty for brain imaging: validation of European evidence-based diagnosis rule. J Pediatr, 2003. 143 (4): p. 445-50). Lucia Ghizzoni, M.D.