Term
|
Definition
| is development of chromosomal, gonadal, or anatomical sex typical, or atypical? |
|
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Term
|
Definition
| how many people develop some type of gonadal dysgenesis, ambiguous genetalia, genital malformations, or sex reversal? |
|
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Term
| Kallman's syndrome (type of hypogonadism) |
|
Definition
| what disorder is characterized by an armspan exceeding their height, a straight hairline, and high pitched voice? |
|
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Term
| 1 in 500 males, clinical presentation is 1 in 1000 males |
|
Definition
| what is the incidence of Klinefelter's syndrome? |
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Term
|
Definition
| what disorder is characterized by 47 XXY? |
|
|
Term
| Klinefelter's syndrome, caused by a meiotic non-disjunction event |
|
Definition
| what is the most common sex chromosome disorder? what even causes this? |
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Term
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Definition
| this disorder results in a male phenotype 100% of the time, small testes 100% of the time, and normal/tall stature with eunuchoidal proportions(reduced muscle development) 100% of the time? |
|
|
Term
| reduced virilization and gynecomastia |
|
Definition
| what do people with Klinefelter's get at puberty 70% of the time? |
|
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Term
| Testosterone replacement therapy |
|
Definition
| what is prescribed for Klinefelter's patients at puberty? |
|
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Term
|
Definition
| does Klinefelters result in reduced or no fertility? |
|
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Term
|
Definition
| what class of disorders results when there is non-functional fetal testes or absence of androgen receptors in the target cells? |
|
|
Term
pre: androgenous or infantile sex char (eunuchism) = tall, skinny, straight hair line
post pubertal: regression of organs and voice, lost of secondary body hair, decreased muscle and bone mass, decreased erection and sexual desire (regress slower post pubertal) |
|
Definition
| what happens if you lose your testes prior to puberty vs post pubertal? |
|
|
Term
| Androgen insensitivity Syndrome (AIS) |
|
Definition
| what disorder is also known as testicular feminization? |
|
|
Term
|
Definition
| what sex disorder has a 46 XY karyotype? |
|
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Term
|
Definition
| in CAIS, what kind of genitalia is typical? |
|
|
Term
| male or female predominantly, or ambiguous genetalia |
|
Definition
| in PAIS, what kind of genitalia is typical? |
|
|
Term
|
Definition
| in MAIS, what kind of genitalia is typical? |
|
|
Term
| gonadectomy of testes, followed by estrogen replacement |
|
Definition
|
|
Term
female: treat same as CAIS (gonadectomy + estrogen therapy)
male/ambiguous: sex assignment surgery |
|
Definition
|
|
Term
| mammoplasty for gynecomastia, testosterone |
|
Definition
|
|
Term
| 5 alpha reductase deficiency |
|
Definition
| what disease only affects genetic males, and often causes males to identify as females? |
|
|
Term
| yes, they can produce viable sperm |
|
Definition
| are people with 5 alpha reductase deficiency fertile? |
|
|
Term
|
Definition
| are AIS patients infertile? |
|
|
Term
| juevodoces = 5 alpha reductase deficiency |
|
Definition
| what disease happens commonly in the Domincan republic that causes females to turn male? |
|
|
Term
| autosomal recessive (NOT carried on sex chromosome) |
|
Definition
| is 5 alpha reductase deficiency dominant or recessive? |
|
|
Term
|
Definition
| what causes prostatic hypertrophy? |
|
|
Term
|
Definition
| after what age is BPH and adenomatous hyperplasia common? |
|
|
Term
|
Definition
| by what age do almost all men have cancer cells in their prostate? |
|
|
Term
|
Definition
| what are tumors of the prostate that sometimes develop and frequently metastasize |
|
|
Term
castration, radiation therapy, or chemical castration
(can give estrogen to decrease androgens) |
|
Definition
| how do you treat prostate cancer? |
|
|
Term
| 1/2500 live births, 98% miscarry |
|
Definition
| how common is Turner's syndrome? |
|
|
Term
|
Definition
| what disorder is associated with 45 XO genotype? |
|
|
Term
|
Definition
| short stature, webbed neck, and delayed puberty are associated with what sex development disorder? |
|
|
Term
|
Definition
| what causes a dysmorphic streak ovaries(non-functional), amenorrhea, and infertility? |
|
|
Term
| estrogen replacement therapy to induce puberty, and then estrogen plus progesterone |
|
Definition
| what is done to treat Turner's syndrome? |
|
|
Term
1) broad chest, wide spaced nipples, short, webbed neck
2) low set ears and micrognathia
3) coartation of the aorta and aortic stenosis
4) renal abnormalities such as horseshoe kidney
5) edema
6) musculoskeletal issues such as cubitus valagas(deformed, divergent elbows), short 4th metacarpal, genu valgas(knock knees)
7) sensorineural deafness, recurrent otitis media
8) increased incident of grave's disease(hyperthyroidism) |
|
Definition
| list some of the dismorphic features of turner's syndrome |
|
|
Term
|
Definition
| what sex do turner's syndrome patients appear as? |
|
|
Term
|
Definition
| what is the most common cause of ambiguous genitalia? |
|
|
Term
| Congenital Adrenal Hyperplasia |
|
Definition
| aka adrenal steroid 21-hydroxylase deficiency |
|
|
Term
| they are given glucocorticoids to help balance out the body and prevent the overproduction of ACTH trying to correct this |
|
Definition
| what is the treatment of CAH? |
|
|
Term
both boys and girls, girls more severe
boys: early puberty and small testes
girls: normal ovaries, uterus, and oviducts, ambiguous genitalia |
|
Definition
| what sexes are affected by CAH? how? |
|
|
Term
|
Definition
| what disorder is an acute life threatening crisis in neonates? |
|
|
Term
| Polycystic Ovary syndrome (PCOS) |
|
Definition
| associated with obesitity and anovulation (increased virilization) follicles grow and produces a lot of androgens (androgen excess disorder) |
|
|
Term
|
Definition
| most common endocrine cause of anovulatory infertility |
|
|
Term
|
Definition
| characterized by variable combinations of menstrual irrecularity, chronic anovulation, hirsutism or acne, and obesity |
|
|
Term
| hyper-insulinemia (many have diabetes mellitus), which stimulates androgen production in the ovaries and adrenal glands. |
|
Definition
|
|
Term
| PCOS is associated with elevated LH and normal or low FSH |
|
Definition
| how does FSH and LH vary in PCOS? |
|
|
Term
1)clomiphene citrate-for infertility, competitive antagonist of estrogen leading to rises in GnRH, FSH, and LH
2) ISDs (insulin sensitizing drugs)
3) Ovarian drilling - removal of androgen producing ovarian tissue by diathermy or laser |
|
Definition
| what is used to treat PCOS? |
|
|
Term
|
Definition
| what is the med term for uterine fibroids? |
|
|
Term
|
Definition
| benign smooth muscle tumors of the myometrium, the most common pelvic solid tumor |
|
|
Term
| 40%, it is the most frequently reported indication for surgery in women |
|
Definition
| of the 600,000 hysterectomies in the US, what percent are due to fibroids? |
|
|
Term
|
Definition
| what is a symptom of uterine fibroids? |
|
|
Term
supress estrogen to decrease FSH and LH (disrupt cycle, shrink fibroids, restart cycle)
also continuous GnRH (instead of cyclic) to shut down FSH and LH |
|
Definition
| how are uterine fibroids treated besides surgery? |
|
|
Term
|
Definition
| presence of endometrial tissue outside the uterus dependent on estrogen (65% in the ovary) |
|
|
Term
| infertility, pain, recurrent bleeding from ectopic sites |
|
Definition
| what are the symptoms of endometriosis? |
|
|
Term
|
Definition
| how many smooth muscle cells are needed to cause a fibroid? |
|
|
Term
| GnRH continuous therapy & oral contraceptives to resolve the growths |
|
Definition
| how is endometriosis treated? |
|
|
Term
|
Definition
| are patients with endometriosis fertile? |
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