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)