primary amenorrhea

Question 1

ddx primary amenorrhea: breast present/uterus present

Answer 1

• can think of this as ddx for secondary amenorrhea
• hypothalamic
• 25% pituitary adenomas
• ovarian
• uterine

Question 2

work-up of primary amenorrhea?

Answer 2

• FSH
• TSH
• HCG
• PRL
• Exam: breast development, vagina/cervix presence
• Karyotype
• US/MRI
• Hyperandrogen work-up

Question 3

when should primary amenorrhea be evaluated?

Answer 3

• no menarche by age 15
• no menarche within 3 years after thelarche
• no thelarche by age 13

Question 4

what is average age of menarche

Answer 4

12-13 years

Question 5

what is the sequence of normal pubertal development and average age?

Answer 5

GRaB PAM

• growth spurt:9 years
• breast development 9.5 years
• pubarche: 10 years
• Adrenarche: 10 years
• Menarche: 12 years

Question 6

ddx primary amenorrhea: breast absent/uterus present

Answer 6

Hypothal/pit issue (hypo/hypo)

• CNS lesion (pituitary adenoma, craniopharyngioma)
• GnRH production issue from hypothalamus (Kallman syndrome)
• Isolated gonadotrophin deficiency
• constitutional delay
• GnRH resistance
• Hypothyroidism

Gonadal Failure

• 45 X (turner)
• 46X (arm delition)
• 46 XY gonadal dysgenesis (Swyer’s syndrome)
• Mosiacism (X/XX, X/XXX)

Question 7

ddx primary amenorrhea: breast absent/uterus absent

Answer 7

• rare but: XY, elevated FSH, LH, testosterone normal or low for female
• 17, 20 desmolase deficiency
• 17 alpha hydroxylase deficiency (46XY)
• testicular regression syndrome

Question 8

ddx for primary amenorrha: breast present, uterus absent

Answer 8

• mullerian agenesis

- 46 XY androgen insensitivity syndrome (normal range testosterone for males; spare axillary and pubic hair)