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27 Cards in this Set

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What is the definition of primary amenorrhea?
never had menstruation
What is secondary amenorrhea?
when an established menstruation has stopped for a certain period of time
What is the karyotype of a person with Turner's Syndrome?
45,x (Monosomy X)
What is gonadal dysgenesis?
• generally refers to a condition where gonadal development is abnormal

• often only presenting streaks of connective tissue
What are characteristics of Turner's Syndrome?
• ovaries fail to develop

• estrogen deficiency » leads to sexual infantilism

• has increased levels of LH and FSH (due to negative feedback to the pituitary)
What are physical characteristics of Turner's Syndrome?
• coarctation of the aorta
• cubitus valgus (elbows that are turned out)
• epicanthal folds
• fish-like mouth
• low set ears
• most patients are short (between 48-58 inches)
• neonatal lymph edema
• shield-like chest w/ widely spaced nipples
• short, webbed neck
What methods are used to investigate for Turner's Syndrome?
• Karyotype (most common; analyzes the chromosomal composition of the indivdual)

• Pelvic ultrasound (would see no ovaries OR a strip)

• Gonadotropin levels (would be elevated)
What is the treatment of Turner's Syndrome?
• no cure, but can minimize symptoms

• growth hormone (will improve growth)

• estrogen replacement therapy (to promote the development of secondary sex characteristics)

• surgical removal of streak gonads (to reduce risk of ovarian cancer)
Can a patient with Turner's Syndrome become pregnant?
Yes. Patients with Turner's Syndrome can use reproductive technolgies and carry a donor egg. Uterus is still capable of carry a pregnancy
What is the karyotype of patients with Testicular Feminization Syndrome?
46, XY
What are characteristics of patients with Testicular Feminization Syndrome?
• patients are genetic males
• they have normal female external genitalia
• have resistance of target tissues to action of androgen (target cells do not respond to testosterone)
What prevents patients with Testicular Feminization Syndrome from developing fallopian tubes, a uterus, and an upper vagina?
fetal testes produce mullerian duct inhibiting factor which prevents the development of internal female reproductive organs
What is the treatment/management of patients with Testicular Feminization Syndrome?
• surgical removal of the testes (to prevent chances of malignancy)

• lifelong estrogen therapy
What are other causes of primary amenorrhea?
• Delayed Menarche
• Hypogonadotropic hypogonadism
• Isolated gonadotropin deficiency
• Panhypopituitarism
• Resistant Ovary Syndrome
What is the most common cause of secondary amenorrhea?
pregnancy
What are characteristics of Polycystic Ovary Syndrome?
• female hyperandrogenism
• increased release of LH relative to FSH, resulting in an increased production of androgens (from Currents)
• results in anovulation, multiple cysts, and ovarian theca cell hyperplasia

* Santana said LH would be low; Current says increased release of LH (pg 765)
Polycystic ovary syndrome is seen most commonly in what age group?
• seen most common post-puberty and women between 20-30 years of age

• associated with a family history of PCOS
What are clinical features of polycystic ovary syndrome?
• hirsutism
• infertility
• obesity
• oligomenorrhea (decreased menstruation)
What tests would you do when diagnosing polycystic ovary syndrome?
• serum LH and/or testosterone concentrations

• ultrasound (would see cysts)
How do you manage a patient with polycystic ovary syndrome?
• estrogen and cyproterone acetate therapy (for Hirsutism)

• menstrual disturbance often responds to combined oral contraceptive pill

• oral clomiphene citrate or parenteral gonadotrophins (to treat anovulation)
What percentage of women with PCOS, who present with anovulatory infertility, will respond to ovulation induction?
80%
What is the cause of Male Hypogonadotrophic Hypogonadism?
deficiency in FSH and LH
What other abnormalities should be investigated for patient with Hypogonadotrophic Hypogonadism?
• the deficiency in FSH and LH may be isolated or associated with other pituitary hormonal abnormalities

• patients must evaluated for signs of:
• Cushings syndrome
• Adrenal Insufficiency
• GH excess or deficiency
• Thyroid hormone excess or deficiency
What are possible causes of testicular failure?
• Cancer chemotherapy
• Irradiation
• Viral infection (mumps)
What are clinical features of hypogonadotrophic hypogonadism?
Depends on age of onset of androgen deficiency

• Cryptorchism
• Decreased libido
• Hypospadias
• Impaired sexual function
• Late closure of epiphyses
• Microphallus
• Scant body and facial hair
What test should be done when investigating for hypogonadotrophic hypogonadism?
• full pituitary function tests
• serum testosterone, LH, & FHS measurements
• pituitary CT or MRI
How do you manage a patient with hypogonadotrophic hypogonadism?
• androgen replacement therapy

• gonadotrophins (LH & FSH) are required to induce spermatogenesis