Columbus: disorders of puberty

Question 0

How should premature thelarche be evaluated?

Answer 0

Serum estrogen level. follow up in 6 to 12 months

Consider GnRH stimulation test: give GnRH IV followed by FSH and LH. If LH predominates this indicates precocious puberty, if FSH predominates result is indeterminate, refer to REI

Question 1

What is the normal progression of pubertal events in women?

Answer 1

1. Thelarche or breast budding
2. Pubarche or onset of pubic hair
3. Peak height velocity
4. Menarche

Question 2

Adrenarche is the development of axillary and pubic hair. This is caused by what hormone? How should patients with isolated adrenarche be counseled?

Answer 2

DHEA and DHEAS from the adrenal Benign if isolated; usually due to adrenal androgens

Question 3

When should girls be evaluated for precocious puberty?

Answer 3

• Girls with breast development or pubic hair development before age 7 if white or age 6 if African-American
• Or girls with breast development after this ages with unusually rapid progression of puberty resulting in a bone age greater than two years ahead of predicted
• Or girls with breast development after these ages with new CNS findings or behavior-based factors suggesting they or their family are adversely affected

Question 4

What history should be empathized for precocious puberty?

Answer 4

Chronology, iatrogenic exposure, CNS symptoms, trauma

Question 5

What examination findings should be emphasized for precocious puberty?

Answer 5

Height and weight, Tanner stages, abdominal, neuro, and pelvic exam

Question 6

What laboratory testing should be ordered for precocious puberty?

What imaging should be considered?

Answer 6

FSH, LH, hCG tumor marker, TSH, DHEAS

Bone age, abdomen pelvic ultrasound, head CT or MRI

Question 7

What type of ovarian tumors cause precocious puberty?

Answer 7

Granulosa theca cell

Question 8

What are the sequelae of precocious puberty?

Answer 8

• Premature epiphyseal closure and short stature
• Isolation from peers
• Sexual abuse
• Pregnancy

Question 9

How is idiopathic precocious puberty treated?

Answer 9

GnRH agonist to arrest development for psychological reasons and improve final height

Question 10

What is McCune-Albright syndrome?

How is it treated?

Answer 10

Hereditary disorder with peripheral precocious puberty, café au lait skin pigmentation, fibrous dysplasia of bone. Affected girls overproduce estrogen

Treatment strategies include blocking estrogen synthesis or estrogen action. Tamoxifen and aromatase inhibitors have been tried. The most effective medicine appears to be fulvestrant, a pure estrogen receptor antagonist

Question 11

Defined delayed puberty.

Answer 11

No sexual development by age 13 No menses by age 15 No menses 5 years after thelarche if began prior to age 10

Question 12

What lab testing should be ordered to evaluate delayed puberty?

Answer 12

FSH, LH, TSH, estradiol

Question 13

What is the differential diagnosis for hypergonadotropic hypogonadism?

Answer 13

Remember high FSH and LH with low estrogen

• Gonadal dysgenesis
• Primary ovarian insufficiency
• Galactosemia
• Injury or infection to the gonads
• 17 hydroxylase deficiency

Question 14

What is the primary cause of gonadal dysgenesis?

What are the major sequelae?

Answer 14

Turner syndrome

Congenital cardiac anomalies, aortic aneurysm, diabetes, epilepsy, liver disease, pneumonia

Question 15

What is the differential diagnosis for hypogonadotropic hypogonadism?

Answer 15

• CNS disorder
• Isolated FSH or LH deficiency
• Kallmann syndrome
• Hypothyroidism
• Anorexia
• Exercise-induced

Question 16

What is Kallmann syndrome?

What physical exam finding confirms the diagnosis?

Answer 16

Mutation of KAL1 and fibroblast growth factor genes leading to impaired GnRH and olfactory neuron migration

Anosmia

Question 17

What are the three leading causes of primary amenorrhea?

Answer 17

1. Gonadal dysgenesis
2. Androgen insensitivity
3. Mullerian agenesis (Mayor-Rokitansky-Kuester-Hauser syndrome)

Question 18

What is the probable diagnosis for primary amenorrhea with normal secondary sexual characteristics with no pubic or axillary hair?

What testing should be ordered?

Answer 18

Probable androgen insensitivity

Karyotype and testosterone level

Question 19

What is the likely cause of primary amenorrhea with caramel secondary sexual characteristics?

What testing should be ordered?

Answer 19

Probably anatomic

Physical examination, ultrasound or MRI

Question 20

What is the likely diagnosis with primary amenorrhea and delayed puberty:

1. If FSH is high?
2. If as FSH is low or normal?

Answer 20

1. Likely gonadal dysgenesis
2. Order prolactin, TSH, head CT or MRI

Question 21

Describe Tanner Staging.