Amenorrhea

1. Amenorrhea
www.freelivedoctor.com

2. Definitions and Epidemiology
nPrimary amenorrhea
– absence of normal menstruation in a patient
without previously established cycles
–no periods by age 14 with no secondary sex
changes
–absence of menarche by age 16 regardless of
secondary sex changes
–no periods by 2 years after the start of secondary
sex changes
–< 0.1-2.5% of reproductive age women
www.freelivedoctor.com

3. Definitions and Epidemiology
nSecondary amenorrhea
–absence of menses for 3 cycle lengths in
oligomenorrhea, or for 6 months after
having regular menses
–1-5% of the population
www.freelivedoctor.com

4. Clinical Presentation
nHistory
–milestones, development, diet, exercise, wt
change
–drug use (antipsychotics, hormones, narcs, anti-
HTN’s
–systemic disease (hypothyroidism, adrenal insuff.,
GH excess)
–past surgery, glactorrhea, hirsutism
–gyn/ob hx (hemorrhage, D&C, infection)
–genetic history
www.freelivedoctor.com

5. Clinical Presentation
nPhysical
–ht, wt, vitals
–signs of thyroid dz (protuberant eyes, enlarged
gland, puffy face, heat/cold intolerance)
–secondary sex changes
•thelarche (breast devel): avg. age 10.8 yrs;
indication of estrogen exposure
•adrenarche (pubic/axillary hair development):
avg. age 11 and indicates ovarian and adrenal
androgen production and end organ response
–decreased breast size or vaginal dryness
indication decreasing estrogen exposure (or
increasing androgens)
–presence of a cervix (confirms presence of a
uterus)
www.freelivedoctor.com

6. Etiology
nPrimary amenorrhea
–gonadal failure is most common cause
–uterovaginal agenesis is second most
common cause
nAnorexia nervosa is the most common cause of
amenorrhea overall in teens
nSecondary amenorrhea
–pregnancy is most common cause
–49-62% have hypothalamic disorders,
including PCO
–7-16% have pituitary disorders
–10% have ovarian disorders
–7% have Ashermans syndrome
www.freelivedoctor.com

7. DDx and Tx in Primary Amenorrhea:
2nd sex changes absent, cervix present
–50% of patients
–primary ovarian disorders
•Turner’s sd; pure gonadal dysgenesis; chromosomal
mosaics; structural abnormalities of the sex
chromosomes
–CNS, hypothalamic, or pituitary failure
•anatomic lesions; Kallman’s sd; anorexia nervosa or
bulimia; exercise induced; constitutional delay;
hyperprolactinemia
–Endocrinopathies (17 alpha hydroxylase
deficiency)
www.freelivedoctor.com

8. DDx and Tx in Primary Amenorrhea:
2nd sex changes absent, cervix present
nWork up includes measuring FSH
–if >40 and less than 30y/o
•do karyotype
–if Y chromosome exists, excise gonads
–if 46XX, r/o 17a-hydroxylase deficiency
•replace estrogen/progesterone, and if 17a-
hydroxylase deficient, replace steroids also
www.freelivedoctor.com

9. DDx and Tx in Primary Amenorrhea:
2nd sex changes absent, cervix present
–if low, then a problem with the CNS, hypothalamic, or
pituitary exists
•measure serum prolactin
•consider CT
•no karyotype needed (all are 46XX)
•replace estrogen/progesterone
•consider GH
•fertility requires assistance
www.freelivedoctor.com

10. DDx and Tx in Primary Amenorrhea:
2nd sex changes present, cervix present
nMay present w/ primary or secondary amenorrhea
n1/3 of pts with primary amenorrhea have breasts and
a uterus, 1/4 of these have hyperprolactinemia
nCNS or hypothalamic causes
•anatomic lesions (can appear with or without
secondary sex changes
•drugs affecting prolactin levels (stimulators and
inhibitors)
•stress, exercise, and eating disorders
•PCOS
•functional hypothalamic amenorrhea
www.freelivedoctor.com

11. DDx and Tx in Primary Amenorrhea:
2nd sex changes present, cervix present
nPituitary causes
nOvarian causes (elevated gonadotropin and
low estrogen)
–radiation and chemo; premature ovarian
failure; ovarian resistance sd; PCOS;
infection; vascular injury; cystetomy
nUterine causes (only group in this category
who will show normal endocrine findings
www.freelivedoctor.com

12. DDx and Tx in Primary Amenorrhea:
2nd sex changes present, cervix present
nWork up
–r/o pregnancy
–r/o hyperprolactinemia
–if prolactin level elevated, evaluate thyroid
function
–measure FSH and LH
–measure 17a-hydroxylase progesterone and
progesterone
–do a progesterone challenge test
nTreatment
–dopamine agonist therapy
–combination OCP therapy
–estrogen replacement
www.freelivedoctor.com

13. DDx and Tx in Primary Amenorrhea:
2nd sex changes present, cervix absent
nandrogen insensitivity (testicular feminization sd)
nmullerian anomalies or agenesis
nwork up
–karyotype and testosterone level
–if nl body hair and female testosterone levels,
uterine agenesis is present and pt is sterile
•karyotype is to r/o male pseudohermaphrodism
•IVP should be done to r/o renal anomalies
•may need reconstructive surgery
–pts with AI are usually raised as girls (XY)
•remove gonads after breast development and
epiphyseal closure
•replace estrogen
www.freelivedoctor.com

14. DDx and Tx in Primary Amenorrhea:
2nd sex changes present, cervix absent
–if nl body hair and female testosterone levels,
uterine agenesis is present and pt is sterile
•karyotype is to r/o male pseudohermaphrodism
•IVP should be done to r/o renal anomalies
•may need reconstructive surgery
–pts with AI are usually raised as girls (XY)
•remove gonads after breast development and
epiphyseal closure
•replace estr
www.freelivedoctor.com

15. DDx and Tx in Primary Amenorrhea:
2nd sex changes absent, cervix absent
n<1% of primary amenorrhea
–pts are 46XY, but have abnormality in
testosterone synthesis
–mullerian inhibiting factor causes internal
female organs to regress
nDDx
–17a-hydroxylase deficiency
–17,20 desmolase deficiency
–agonadism
www.freelivedoctor.com

16. DDx and Tx in Primary Amenorrhea:
2nd sex changes absent, cervix absent
nLab: elevated gonadotropins and low-
normal female testosterone levels
nTx: remove testicles and replace
estrogen; no need for progesterone
www.freelivedoctor.com

17. Secondary Amenorrhea
nDifferential
–similar to that of primary amenorrhea with cervix and
secondary sex changes present
nWork up
–r/o pregnancy
–r/o hyperprolactinemia
–if prolactin level elevated, evaluate thyroid function
–measure FSH and LH
–measure 17a-hydroxylase progesterone and
progesterone
–do a progesterone challenge test
www.freelivedoctor.com

18. Secondary Amenorrhea
nTreatment
–dopamine agonist therapy
–combination OCP therapy
–estrogen replacement
www.freelivedoctor.com