Primary Amenorrhea
Turners Syndrome
45X. Hypergonadotrophic hypogonadism. Most common form of female gonadal dysgenesis. Short stature, webbed neck. Reproductive potential - egg donor (have functional uterus - but risk of aortic dissection during pregnacny because of cardiac abnormalities)
Sweyers sydnrome
46XY - absence of SRY region . Hypergonadotropic Hypogonadism. Streak gonads. Lack of breast development. Normal female internal and external genitalia
Androgen Insensitivity Syndrome
46XY. Breasts present, uterus absent. Gentic male, phenotypic female (female habitus, breasts, female external genitalia). Blind vaginal pouch (Y chromosome present, has SRY gene - made Anti-Mullerian hormone - regression of Mullerian ducts, thus no uterine development). Intra-abdominal testis. Mutation in androgen receptor - unresponsive to testosterone (Female external genitalia develops as default when no testosteorne around)
Presence of breasts
Breasts = presence of estrogen (breast development is stimulated by estrogen). Tells you that have functioning ovaries (primarily responsible for making estrogen)
Causes of hypogonadotrophic hypogonadism from Hypothalamus
Constitutional delay of puberty (family history - everyone goes through puberty late), Hypothalamic dysfunction (disruption of normal pulsaltile secretion of GnRH - anorexia, excessive exercise, psychological stress), Kallmann's syndrome, CNS tumors
Evaluating primary amenorrhea
Does the patient have breasts? Does the patient have a uterus?
Breasts present, Uterus absent
Estrogen is around, but no uterus - patient might be genetic male (do blood test for karyotype). Genetic male (46 XY = Androgen Insensitivty Syndrome). Genetic female (46 XX = Mullerian Agenesis, Mayer-Rokantansky-Hauer syndrome)
Kallmann's syndrome
Failure of GnRH neurons to migrate into hypothalamus, anosmia (can't smell - olfactory neurons disrupted too). Hypogonadotrophic hypogonadism.
Causes of hypergonadotropic hypogonadism
High FSH and LH, problem is in the ovary. Premature ovarian failure (46 XX), Turners syndrome (45X), Gonadal dysgenesis (46XY)
Causes of primary amenorrhea
Hypothalamic causes, Pituitary causes, Ovarain causes, Uterine/vaginal causes
Breasts absent, uterus present
Hypothalamic, pituitary, ovarian causes. (Not uterine - uterus present, if it were vaginal cause = blockage and would have breasts)
Primary Amenorrhea
Lack of menarche (onset of menses)
Breasts present, Uterus present
Means have estrogen, have functioning ovaries (making the estrogen) - therefore have functioning hypothalamus and pituitary (telling ovary to make estrogen). Uterus present. Have ruled out hypothalamic, pituitary, uterine, ovarian causes
Presence of uterus
Means that had absence of anti-mullerian hormone (which tells the uterus to go away). Patient is genetic female
Breasts absent
Means that ovaries aren't working to make estrogen. Problem could be ovary, pituitary or hypothalamus (Getn, LH and FSH levels; don't get estrogen because already know that it is low because no breasts present)
Candidates for evaluation of primary amenorrhea
No period by age 16 regardless of secondary sex characterisitcs. No period 5 years after breast development. No secondary sexual characteristics by age 14
Causes of hypogonadotrophic hypogonadism from Pituitary
Pituitary tumor (mass compression supressing gonadotropin release), craniopharyngiomas, adenomas (functioning or non-functioning)
Hypogonoadotrophic hypogonadism
Problem is in pituitary or hypothalamus, not in ovary (low FSH, LH and low estrogen)
Hypergonadotrophic hypogonadism
Problem is in the ovary (high FSH and LH, low estrogen)
SRY region
Region on Y chromosome that tells bipotential gonad to become a testis instead of an ovary
Causes of primary amenorrhea - breasts present, uterus present
Rule out pregnancy. Outflow obstruction. Endocrine abnormalities (thyroid, hyperprolactinemia)
GnRH test
To differenitate between hypothalamic and pituitary origin of hypogonadotrophic hypogonadism. Give GnRH - if LH increases, then hypothalamus is problem (pituitary just wasn't getting stimulation)
