Amenorrhea
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Amenorrhea

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    Amenorrhea Amenorrhea Presentation Transcript

    • Amenorrhea www.freelivedoctor.com
    • 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
      www.freelivedoctor.com
    • 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
      www.freelivedoctor.com
    • 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
      www.freelivedoctor.com
    • 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)
      www.freelivedoctor.com
    • 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
      www.freelivedoctor.com
    • 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
    • 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
      www.freelivedoctor.com
    • 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
    • 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
      www.freelivedoctor.com
    • DDx and Tx in Primary Amenorrhea: 2nd sex changes present , cervix present
      • 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
      www.freelivedoctor.com
    • 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
      www.freelivedoctor.com
    • 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
      www.freelivedoctor.com
    • 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
    • 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
      www.freelivedoctor.com
    • DDx and Tx in Primary Amenorrhea: 2nd sex changes absent , cervix absent
      • Lab: elevated gonadotropins and low-normal female testosterone levels
      • Tx: remove testicles and replace estrogen; no need for progesterone
      www.freelivedoctor.com
    • 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
      www.freelivedoctor.com
    • Secondary Amenorrhea
      • Treatment
        • dopamine agonist therapy
        • combination OCP therapy
        • estrogen replacement
      www.freelivedoctor.com