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Amenorrhea

Amenorrhea. Lee Saliba and Lara Traczyk.

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Amenorrhea

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  1. Amenorrhea Lee Saliba and Lara Traczyk

  2. A 17yo nulliparous female complains that she has not yet started menstruating. She denies weight loss or excessive exercise. Each of her sisters achieved menarche by age 13 years. The patient’s mother recalls a doctor mentioning that her daughter had a missing right kidney on an abdominal x-ray film. On examination, she is 5 feet 6 inches ( cm) and weigh 65 kg. Her blood pressure is 110/60. Her thyroid gland is normal on palpation. She has Tanner stage IV breast development and female external genitalia. She has Tanner stage IV axillary and pubic hair. There are no skin lesions.

  3. Objectives • Review relevant findings on history, physical, laboratory tests and diagnostic imaging used in evaluation of amenorrhea, and how they point to the etiology of amenorrhea • Formulate a Differential Diagnosis • Describe the pharmacological, non-pharmacological and surgical treatment options for amenorrhea

  4. What it amenorrhea? • Would this 17yo female fit the criteria for amenorrhea? • Would it be primary of secondary?

  5. Definition Primary • Absence of menarche by 15 (16)* years of age in presence of normal growth and secondary sexual characteristics OR • Absence of menarche by 13 (14)* years of age with an absence of secondary sexual characteristics Secondary • Absence of menses for >3 cycles of 6 months in women who have previously had menses Amenorrhea occurs in less than 5% of all women

  6. Classification • Hypothalamic-pituitary dysfunction • Ovarian dysfunction • Alteration of genital outflow • **Always rule out pregnancy *All causes for secondary amenorrhea can cause primary amenorrhea but not vice versa*

  7. Primary Amenorrhea • Most common cause is chromosomal abnormalities causing gonadal dysgenesis (50%) • 2nd most common: hypothalamic hypogonadism (20%) • Other • Absence of uterus, cervix, and/or vagina, müllerian agenesis (15%) • Transverse vaginal septum (5%) • Imperforated hymen (5%) • Pituitary disease (5%) • Adrogen insensitivity, congenital adrenal hyperplasia, PCOS (5%)

  8. Secondary Amenorrhea Disorders of the: • Ovary – 40% • Hypothalamus – 35% • Pituitary -19% • Uterus – 5% • Other – 1%

  9. Secondary Amenorrhea

  10. Classification

  11. History HPI/Pmedhx • past menses (menarche, duration, qty, clots, pain) • cyclical abdominal pain • eating problems, excessive weight loss, strenuous exercise (functional) • headaches, vision problems, galactorrhea (prolatctinoma) • symptoms of hypothyroidism or hyperthyroidism • acne, excessive hair growth (PCOS) • vasomotor symptoms Hormonal Screening • pregnancy: breast fullness, weight gain nausea • premature ovarian failure (sx of estrogen insufficiency: hot flashes, dryness) • PCOS • Sheehan • Cushings • Prolactinoma • Thyroid • Acromegaly • Kallman's(loss of smell) • Congenital adrenal hyperplasia

  12. History Family Hx • Constitutional delay of puberty • Age of menarche in mom and sisters • Amenorrhea • Age at onset of menopause in mother and sisters • Endocrinopathies Social Hx • HEADSS • Drugs, etoh, tobacco, stresses, bullying • Sex hx (active, birth control), pregnancy, breastfeeding, dyspareunia, STI • “reported to be associated with low quality of life in adolescents, particularly in physical function, role performances, viatlity and social functioning.” J Reprod Med 2013;58:324-336

  13. History Cont’d Medications • Contraceptives, hormones, steroids, marijuana, psychoactive drugs (ie antidepressants) Surgical History • Uterine instrumentation

  14. Physical – Primary Amenorrhea • Height, weight, and body mass index • Tanner staging • Breast development is an excellent marker for ovarian estrogen production • Thyroid palpation • PCOS: Obesity, acanthosisnigrans, acne, hirsutism • Anorexia: • Adrenal : look for signs of Cushings • Pituitary tumour: galactorrhea, bitemporalhemianopsia • Abdominal masses • Genital examination : virilization, evidence of an outflow tract obstruction, or a missing or malformed organ • Thin vaginal mucosa is suggestive of low estrogen. • Dysmorphic features (ex: webbed neck or low hairline may suggest Turner syndrome)

  15. Investigations • B-hCG (r/o pregnancy) • Hormones (LH, FSH, PRL, TSH, estradiol,Testosterone, DHEA-S) • Progesterone Test • + Bleeding: estrogen is produced, endometrium is intact and genital tract is open • No bleeding: anatomical abnormality • Electrolytes (if suspected adrenal issue) • Glucose, lipids • Pelvic U/S • Brain CT/MRI • Karyotype

  16. Treatment • Depends on the cause and the patients goals • Treat symptoms such as hirsutism • Future pregnancies

  17. Treatment • Gonadal failure • Hormone replacement • Presence of a Y chromosome on karyoptype requires excision of gonadal tissue to prevent risk of malignancy(gonadoblastoma) • Hypothalamic dysfunction • Functional: weight gain, reduction in intensity of exercise, resolution of illness or emotional stress • Oral contraception • If pregnancy is desired: exogenous gonadotropins or pulsatile gonadotropin-releasing hormone (gnRH) • Outflow tract obstruction • Surgery • Dependent on cause  surgical correction of a vaginal outlet obstruction, creation of neovagina for patietns with müllerian failure, … • Testicular feminization syndrome • Leave testes until after puberty because peripheral conversion of androgen to estrogen promotes breast development and growth

  18. Treatment • Polycystic Ovarian Syndrome • Weight reduction (can reduce androgen secretion) • Oral contraceptives • Surgical Therapy: ovarian wedge resection or laparoscopic electrocautery • Pituitary disease • Pituitary macroadenoma: surgical ressection • Empty sella syndrome and Sheehan syndrome: hormone replacement • Premature ovarian failure • Estrogen replacement therapy, karyotype if <30 yrs old • Asherman Syndrome • Lysis of intrauterine adhesions and stimulation of endometrium with estrogen

  19. Treatment • Need to consider psychological counselling • For amenorrhea • Causeand ramifications (ie infertility, growth)

  20. Questions?

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