female reproductive and breast Flashcards
Tanner stages is assigned independently to
independently to: 1. genitalia 2. pubic hair 3. breast (person can have Tanner 2 genitalia, Tunner stage 3 pubic hair
Tanner stages - stage I (male and female)
PRE-pubertal
female: no sexual hair, flat appearing chest with raised nipple
male: no sexual hair
Tanner stages - stage II (male and female)
female: pubic hair appears (pubarche), Breast bub forms (thelarche)
male: pubic hair appears (pubarche), testicular enlargement
Tanner stages - stage III (male and female)
female: coarsening of pubic hair, breast enlarges, mound forms
male: coarsening of pubic hair, increase penis size/length
Tanner stages - stage IV (male and female)
female: Coarse hair across pubis, sparing thigh, breast enlarges, raised areola, mound on mound
male: Coarse hair across pubis, sparing thigh, increase penis width/glans c
Tanner stages - stage V (male and female)
female: Coarse hair across pubis and medial thigh, adult breast contour, areola flattens
male: Coarse hair across pubis and medial thigh, penis and testis enlarge to adult size
Thelarche?
onset of female breast development
Pubarche
the first appearance of pubic hair in a child
Prostate - lymph drainage
Internal iliac
Sex chromosome disorders - mechanism and types
Aneuploidy (abnormal number of chromosomes) most commonly due to meiotic nondisjunction
- Klinefelter syndrome 2. Turner syndrome
- Double Y males 4. Ovotesticular disorder of sex development
Klinefelter syndrome - sex and karyotype
male - 47, XXY
Klinefelter syndrome –> presentation
- Testicular atrophy 2. eunuchoid body shape
3. Long extremities 4. gynecomastia 5. female hair distribution 6. Devopmental delay
Klinefelter syndrome - lab/endocrine profile - mechanism
- presence of inactivated X chromosome (Barr body)
- High FSH (dysgenesis of seminiferous tubuls –> low inhibin B)
- high estrogen (abnormal Leydig function –> low testosterone –> high LH –> upregulation of aromatase)
- Common cause of hypogonadism seen in infertility work-up
MCC of amenorrhea
Turner (45 X0)
Turner syndromes - findings/clinical characteristics (outside and in the body)
- Short stature (if untreated)
- ovarian dysgenesis (streak ovary)
- shield chest
- bicuspid aortic valve
- coartraction (femoral less than branchial pulse)
- Lymphatic vessels defects (a. cystic hygroma or wedded neck, b. lymphadema in feet or hands)
- horseshoe kidney
- amenorrhea (menopause before menarche)
Turner syndrome - lab/endocrine profile
- no Barr body
2. low estrogen –> high LH, FSH
Turner syndrome - pregnancy
possible is some cases (IVF, exogenous estradiol-17β and progesterone) (+donation of an egg or embryo)
Double Y - presentation
- Phenotypically normal (usually undiagnosed)
- very tall
- may be associated with severe acne
- may be associated with learning disability and autism spectrum disorders
- normal fertility
Ovotesticular disorder of sex development - previously called
true hermaphroditism
Ovotesticular disorder of sex development (true hermaphroditism) - karyotype
46,XX > 46,XY
Ovotesticular disorder of sex development (true hermaphroditism) - manifestation
- both ovarian and testicular tissue presents (ovotestis)
2. ambiguous genitalia
other disorders of sex development (not chromosomal) - other terms
- pseudohermaphrodite
- hermaphrodite
- intersex
other disorders of sex development (no chromosome) - types (and presentations)
- 46, XX DSD –> ovaries present, but external genitalia are virilized ambiguous
- 46, XY DSD –> testes presents, but external genitalia are female or ambiguous
46, XY DSD - mechanism
Most common form is androgen insensitivity syndrome (Testicular feminization)