Normal and Abnormal Female Puberty - Strawn

Question 1

List 4 major events of normal female puberty in chronological order.

Answer 1

1. Initiation of the growth spurt is first
   
   • Note: peak of growth spurt occurs later in puberty
2. Initiation of breast development & pubic/axillary hair
3. Menstruation is last

Question 2

What two hormones contribute to initiation of the growth spurt in females?

Answer 2

1. Estrogen
2. Growth hormone

Question 3

1. Breast development requires the presence of which hormone?
2. Knowing this, what three things must be functional in a female who develops breasts normally?

Answer 3

1. Estrogen
2. Presence of normal estrogen levels (typically) implies:
   
   • Functioning gonad is present
   • Gonad is responsive to FSH/LH
   • Production of FSH/LH implies a functioning hypothalamic-pituitary axis

Question 4

1. What hormone causes development of pubic/axillary hair in a female?
2. How & where is this hormone synthesized from its precursor?
3. What two locations in the female body are responsible for synthesizing the precursor?

Answer 4

1. DHT
2. Synthesized from testosterone by 5a-reductase in the hair follicle
3. Ovaries & Adrenal cortex

Question 5

1. What hormone drives testosterone production in the ovary?
2. What hormone drives testosterone production in the adrenal cortex?

Answer 5

1. LH
2. ACTH

Question 6

In order for menstruation to occur, there must be what?

What events during development contribute to this?

Answer 6

A functioning outflow tract.

• Development of intact, functional uterus
• Functional development of mullerian (paramesonephric) duct system
• Functional development of distal vagina, **fusion **& membrane breakdown with Mullerian system

Question 7

Pubertal events can be considered normal in females who are how young?

Answer 7

As early as 7-8 years of age

(Although, the lecture notes indicate that the presence of breasts and pubic hair in a girl prior to 8 years of age warrants evaluation. Any secondary sex characteristics prior to age 6 definitely warrants a thorough evaluation.)

Question 8

1. At what age does the absence of breasts or pubic hair warrant evaluation?
2. At what age does the absence of menstruation warrant evaluation?

Answer 8

1. Age 14
2. Age 16

Question 9

Breast development is ultimately the result of which hormone?

Knowing this, pathology of what system could cause issues for breast development?

Answer 9

Estrogen

Relies on intact hypothalamic-pituitary-gonadal axis

Question 10

Define precocious puberty.

Answer 10

Occurrence of breasts, pubic/axillary hair, and/or menstruation prior to age 7-8 years.

Question 11

What are the two major categories of precocious puberty?

Answer 11

1. Gonadotropin independent
   
   • Pathology originates from outside of a normal hypothalamic-pituitary axis
2. Gonadotropin dependent
   
   • Premature activation of the hypothalamic-pituitary-ovarian or -adrenal axis

Question 12

Name ~4 causes of gonadotropin independent precocious puberty.

Answer 12

• Granulosal, thecal, sertoli, or leydig cell tumors of the ovary
• Adrenal tumors (benign & malignant)
• Congenital adrenal hyperplasia
• McCune Albright syndrome

Question 13

Defects in which enzymes are implicated in congenital adrenal hyperplasia?

Answer 13

• 21-hydroxylase
• 11-hydroxylase

Question 14

What are the features of McCune Albright syndrome?

Answer 14

• café O lait spots
• polyostotic (“of many bones”) fibrous dyplasia
• autonomous ovarian estrogen production
• hyperthyroidism

Question 15

What is the underlying pathogenesis of McCune Albright syndrome?

Answer 15

Aberrant activation of GDP system leading to increased enzymatic activity of multiple endocrine organs

Question 16

While gonadotropin dependent precocious puberty is typically idiopathic, what is an important possible source to rule out?

Answer 16

CNS tumors

Question 17

What are the major consequences of precocious puberty if not evaluated and treated?

Answer 17

• At the least: very short height to due premature growth plate fusion
  
  • Chronic estrogen and/or androgen exposure
• At the worst: treatable benign or malignant condition of the brain, adrenal gland, or ovary

Question 18

What bones are typically used to determine the age of the epiphyseal plates?

Answer 18

Epiphyseal plates in the hand

Question 19

Which hormones should be evaluated when the following pubertal events occur precociously?

1. Breat development
2. Pubic/axillary hair growth
3. Menstruation

Answer 19

1. Estrogen, FSH
2. Testosterone, LH
3. Estrogen, FSH, LH

Question 20

A girl presents with Turner’s syndrome.

1. What organ is dysfunctional?
2. Why?
3. What hormone would be lacking secondary to the dysfunction?
4. What pubertal events would be absent?

Answer 20

1. Ovaries
2. Lack of two functional X chromosomes - monosomy X, X/Y mosiacism, etc.
3. Estrogen
4. Menstruation, breast development (possibly stunted growth as well?)

Question 21

In what age range should you always first rule out pregnancy?

Answer 21

Age 6(!)-60

Question 22

What three imaging modalities are most useful for evaluating female reproductive abnormalities?

Answer 22

• Ultrasound
• CT
• MRI

Question 23

In a woman with a history of monthly menstrual cycles, absence of menstruation for how long warrants an evaluation?

Answer 23

3 consecutive cycles or 6 months

Question 24

Estrogen is protective against what two major diseases?

Answer 24

• Cardiovascular disease
• Osteoporosis
• (probably others, not mentioned)