Precocious Puberty

Question 1

Define precocious puberty (traditional and ASRM criteria)

Answer 1

telarche before age 8

ASRM (before 7 in caucasian, before 6 in black girls)

Question 2

What is the workup for precocious puberty?

Answer 2

Tanner staging, FSH, LH, estradiol, bone age (L hand/wrist), pelvic u/s

Question 3

What are the potential causes of precocious puberty?

Answer 3

Central vs peripheral (<5%)
Central: idiopathic = 80%, CNS lesions (hamartoma = most common), hypothyroid, genetic
Peripheral: excess adrenal/gonadal sex hormone production or exogenous source: ovarian cysts/tumours, adrenal tumours, late onset CAH, McCune Albright, hypothyroid

Question 4

A patient has precocious telarche with early linear growth spurt. Is this more likely central or peripheral?

Answer 4

Central

Question 5

A patient is referred with PVB at 18 months and cafe au lait spots. What is the most likely diagnosis?

Answer 5

McCune Albright: random mutation in GNAS gene –> inc hormone production from ovarian cysts –> early breast maturation and PVB
can get polyostotic fibrous dysplasia (bone lesions) and cafe au lait spots

Question 6

A patient is referred with precocious puberty and delayed bone age. What is the most likely diagnosis?

Answer 6

Primary hypothyroidism
estrogen/testosterone causes premature closure of growth plates
TRH –> FSH –> estrogen
TSH –> PRL –> galactorrhea

Question 7

What questions would you ask on hx for precocious puberty?

Answer 7

timing of parental puberty, onset/timing of puberty, other signs androgens/virilization, CNS injury/sx/headaches, abdominal complaints

Question 8

What physical exam would you do for precocious puberty?

Answer 8

Height, weight, BMI
Tanner staging breast and adrenarche
external pelvic exam (signs of estrogenisation)
skin exam: cafe au lait spots, acne
neurological exam (central precocious)
thyroid (primary hypothyroid)

Question 9

What investigations would you order for a pt with precocious puberty?

Answer 9

pelvic u/s, FSH, LH, E2, PRL, TSH, 17OH-P,
DHEAS, testosterone, andostrenedione if signs virilization
bone age (advanced if >2SD from normal)
CT/MRI head
GNRH agonist stim test (to see if gonadotropin dependent or independent PP: is the axis turned on?)
if FSH>LH = prepubertal
if LH>FSH = pubertal

Question 10

What is the concern with untreated precocious puberty?

Answer 10

Early closure of growth plate secondary estrogen/testosterone –> short stature
psychosocial issues
inc risk abuse

Question 11

What treatment would you recommend for central precocious puberty?

Answer 11

GNRH agonists -bind GNRH receptors and turn down FSH/LH signalling.. discontinue when skeletal growth = 13-14 or chronological age 11-12
lupron 3.75mg IM q1month or 11.25mg q3months
no evidence future infertility or delayed puberty

Question 12

What treatment would you recommend for peripheral precocious puberty?

Answer 12

find and remove source of estrogen if possible

If not: aromatase inhibitors (letrozole or anastrozole), SERMS (tamoxifen), androgen inhibitors (ketoconazole)