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Pathology -Primary Amenorrhea
This patient has primary amenorrhea — no beginning of menses in a female older than 16 years. This disorder may occur with or without other indicators of puberty and most usually happens as a result of anatomic, hormonal, or genetic abnormality. Anatomic causes include congenital lack of the uterus or vagina, presence of vaginal septum or imperforate hymen, blocked/narrowed cervix, or Müllerian agenesis. Hormonal reasons include pituitary (LH, FSH), ovarian malfunction, or androgen insensitivity. Genetic abnormalities include Turner’s syndrome (45 XO). If secondary sex traits are not present, gonadotropins (FSH, LH) are tested first. If levels are low, hypogonadotropic hypogonadism is present. If FSH and LH are excessive (hypergonadotropic hypogonadism), unresponsiveness of tissues (premature ovarian failure or Turner’s syndrome) is suspected. If secondary sex traits are present (as in the patient in the vignette), ultrasonography assessment of pelvic organs is indicated. If appropriate pelvic architecture is present, uterine outflow blockage is suspected. If aberrant pelvic morphology is identified, this may imply androgen insensitivity throughout fetal life or Müllerian agenesis.
This patient has primary amenorrhea — no beginning of menses in a female older than 16 years. This disorder may occur with or without other indicators of puberty and most usually happens as a result of anatomic, hormonal, or genetic abnormality. Anatomic causes include congenital lack of the uterus or vagina, presence of vaginal septum or imperforate hymen, blocked/narrowed cervix, or Müllerian agenesis. Hormonal reasons include pituitary (LH, FSH), ovarian malfunction, or androgen insensitivity. Genetic abnormalities include Turner’s syndrome (45 XO). If secondary sex traits are not present, gonadotropins (FSH, LH) are tested first. If levels are low, hypogonadotropic hypogonadism is present. If FSH and LH are excessive (hypergonadotropic hypogonadism), unresponsiveness of tissues (premature ovarian failure or Turner’s syndrome) is suspected. If secondary sex traits are present (as in the patient in the vignette), ultrasonography assessment of pelvic organs is indicated. If appropriate pelvic architecture is present, uterine outflow blockage is suspected. If aberrant pelvic morphology is identified, this may imply androgen insensitivity throughout fetal life or Müllerian agenesis.
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