Amenorrhea
Darren Farley, M.D.
Department of Obstetrics and
Gynecology
UKSM-Wichita
Definitions and Epidemiology
Primary amenorrhea
– absence of normal menstruation in a
patient without previously establish...
Definitions and Epidemiology
Secondary amenorrhea
– absence of menses for 3 cycle lengths in
oligomenorrhea, or for 6 mont...
Clinical Presentation
History
– milestones, development, diet, exercise, wt
change
– drug use (antipsychotics, hormones, n...
Clinical Presentation
Physical
– ht, wt, vitals
– signs of thyroid dz (protuberant eyes, enlarged
gland, puffy face, heat/...
Etiology
Primary amenorrhea
– gonadal failure is most common cause
– uterovaginal agenesis is second most
common cause
Ano...
DDx and Tx in Primary Amenorrhea:
2nd sex changes absent, cervix present
– 50% of patients
– primary ovarian disorders
• T...
DDx and Tx in Primary Amenorrhea:
2nd sex changes absent, cervix present
Work up includes measuring FSH
– if >40 and less ...
DDx and Tx in Primary Amenorrhea:
2nd sex changes present, cervix present
May present w/ primary or secondary amenorrhea
1...
DDx and Tx in Primary Amenorrhea:
2nd sex changes present, cervix present
Work up
– r/o pregnancy
– r/o hyperprolactinemia...
DDx and Tx in Primary Amenorrhea:
2nd sex changes present, cervix absent
androgen insensitivity (testicular feminization s...
DDx and Tx in Primary Amenorrhea:
2nd sex changes absent, cervix absent
<1% of primary amenorrhea
– pts are 46XY, but have...
Secondary Amenorrhea
Differential
– similar to that of primary amenorrhea with cervix and
secondary sex changes present
Wo...
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  1. 1. Amenorrhea Darren Farley, M.D. Department of Obstetrics and Gynecology UKSM-Wichita
  2. 2. Definitions and Epidemiology Primary 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
  3. 3. Definitions and Epidemiology Secondary amenorrhea – absence of menses for 3 cycle lengths in oligomenorrhea, or for 6 months after having regular menses – 1-5% of the population
  4. 4. Clinical Presentation History – 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
  5. 5. Clinical Presentation Physical – 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)
  6. 6. Etiology Primary amenorrhea – gonadal failure is most common cause – uterovaginal agenesis is second most common cause Anorexia nervosa is the most common cause of amenorrhea overall in teens Secondary 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
  7. 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)
  8. 8. DDx and Tx in Primary Amenorrhea: 2nd sex changes absent, cervix present Work 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 – 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
  9. 9. DDx and Tx in Primary Amenorrhea: 2nd sex changes present, cervix present May present w/ primary or secondary amenorrhea 1/3 of pts with primary amenorrhea have breasts and a uterus, 1/4 of these have hyperprolactinemia CNS 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 Pituitary causes Ovarian causes (elevated gonadotropin and low estrogen) – radiation and chemo; premature ovarian failure; ovarian resistance sd; PCOS; infection; vascular injury; cystetomy Uterine causes (only group in this category who will show normal endocrine findings
  10. 10. DDx and Tx in Primary Amenorrhea: 2nd sex changes present, cervix present Work 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 Treatment – dopamine agonist therapy – combination OCP therapy – estrogen replacement
  11. 11. DDx and Tx in Primary Amenorrhea: 2nd sex changes present, cervix absent androgen insensitivity (testicular feminization sd) mullerian anomalies or agenesis work 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
  12. 12. DDx and Tx in Primary Amenorrhea: 2nd sex changes absent, cervix absent <1% of primary amenorrhea – pts are 46XY, but have abnormality in testosterone synthesis – mullerian inhibiting factor causes internal female organs to regress DDx – 17a-hydroxylase deficiency – 17,20 desmolase deficiency – agonadism Lab: elevated gonadotropins and low-normal female testosterone levels Tx: remove testicles and replace estrogen; no need for progesterone
  13. 13. Secondary Amenorrhea Differential – similar to that of primary amenorrhea with cervix and secondary sex changes present Work 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 Treatment – dopamine agonist therapy – combination OCP therapy – estrogen replacement
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