April Week 3

1. Precocious Puberty. Peds in Review. http://pedsinreview.aappublications.org/content/27/10/373.full
2. Disorders of Puberty. American Family Physician. http://www.aafp.org/afp/1999/0701/p209.html

Case #1: 
You are examining a 7-year-old African-American boy during a routine well child visit. Physical examination reveals Tanner stage 3 pubic hair and enlargement of his phallus. You note that his testicles are symmetric and have a volume of 7ml each.

1. What is the differential for this boy’s precocious puberty? What if his testicles were <2ml each? What if he had unilateral testicular enlargement?
2. What work-up will help you to narrow down the differential you generated? Why are thyroid studies often included in the initial work-up?
3. You ultimately diagnose idiopathic central precocious puberty. What is unique about gonadotropin secretion which makes their testing sometimes unreliable? For this reason, what test is traditionally used to demonstrate central precocious puberty?
4. If the above test is ‘positive,’ what are you now obligated to order as part of his work-up?
5. You send him for an X-ray of the wrist and determine he has evidence of advanced bone age. You decide to treat with a GnRH agonist. How is this drug effective? If this patient requires long-term therapy, what is he particularly at risk for?

Case #2: 
An 18 month old Caucasian girl presents with bilateral breast development for the past few months. On your thorough physical exam, you find no other signs of pubertal development. 

1. What do you suspect is going on? Explain the physiology of this diagnosis.
2. What is vital to obtain in the history from the patient’s mother?
3. What work-up, if any, is warranted? What would you expect to see on her growth chart?
4. The mother remains concerned and is worried about its potential progression. She asks whether a biopsy would be necessary. How can you reassure her? When can she expect this to regress? And why would you not want to surgically remove this tissue?
5. You are happy to tell her that typically no treatment is required. However, what small risk does this diagnosis carry?