Sex Chromosome abnormalities Flashcards
Monosomy X ?
45 X
Turners Syndrome ?
45 XO
Klinefelter syndrome ?
47 XXY
Klinefelter syndrome characteristics ?
Most common sex chromosome causing hypogonadism
Tall stature
Small testes
Infertility
Noted at puberty
47 XYY characteristics ?
Tall stature
Mild delay but generally educated in mainstream schools
Normal pubertal development
Most are fertile
Most common sex chromosome abnormality in females ?
47 XXX
47 XXX characteristics ?
Tall stature, puberty and fertility normal
Premature ovarian insufficiency can occur
Trisomy 21 ?
Downs syndrome
**originates from the mom and due to increased maternal age **
Trisomy 18 ?
Edwards syndrome
- *severe intellectual disability and usually die within first 2 weeks of life and some survive for a year
- *
Trisomy 13 ?
Patau syndrome
** dont survive usually past the first month
absent eyes **
Patau syndrome triad ?
Micro/anophthalmia
cleft lip or palate
postaxial polydactyly
Cri du Chat- cat cry syndrome pathology ?
Partial deletion short arm of chromosome 5
Cri du Chat- cat cry syndrome characteristics ?
Low birth weight,
FTT, hypotonia, intellectual disability,
microcephaly, round face, broad nasal bridge, low set ears
**boy will have moderate disability with large head and long face and prominent forehead and chin and females will have moderate disability **
46, XY Karyotype: Testicular feminization pathology ?
Testicular feminization
Complete androgen insensitivity syndrome
X linked recessive trait
Androgen receptors absent or defective- testosterone resistance
46, XY Karyotype: Testicular feminization characteristics ?
Phenotypic females with absent uterus and upper 2/3 of vagina
Testes may be palpable in the labia or inguinal region
Produce some estrogen, will develop breasts
Surgical excision of testes – increased risk of gonadal malignancy
46, XY Karyotype Swyer syndome (gonadal dysgenesis) pathology ?
Lacking secretion of MIF and androgens
Testis do not develop → streak gonad
No estrogen secretion, will not develop breasts
Remove streak gonad to prevent tumor
streak gonads cause they lack development and they need to be removed because they can become CA
Turners Syndrome- 45 XO
variants ?
45 XO, XX mosaics
Turners Syndrome- 45 XO
what happens to the ovaries ?
ovaries will be replaces with fibrous tissues
mosaics may menstruate briefly
Turners Syndrome- 45 XO characteristics ?
webbed neck
Coarctation of the aorta is common
NL intelligence but developmental delays
congenital lymphadema - swelling of extremities and short stature ( evident by the age of 5)
most dont undergo puberty unless hormone supplements and most cannot get pregnant
One of the most common causes of Secondary Amenorrhea usually present with oligomenorrhea ?
PCOS
PCOS diagnosis criteria ?
Rotterdam
Rotterdam criteria- 2 out of the 3 following ?
Hyperandrogenism, clinical or biochemical
Oligo or anovulation
Polycystic ovaries by ultrasound
Primary Amenorrhea-Uterine ?
Congenital anatomic lesions of uterus
Secondary Amenorrhea-Uterine ?
Asherman Syndrome
Asherman Syndrome characteristics ?
Only secondary uterine cause
Due to uterine scarring
Secondary to postpartum
hemorrhage, endometritis, D&C, infected products of conception
Primary Amenorrhea-Vagina causes ?
Imperforate hymen
Vaginal septum
Vaginal agenesis
Mullerian agenesis 46XX karyotype
Primary Amenorrhea-Vagina: Imperforate hymen ?
Menstruation efflux can not occur
Cyclic abdominal pain
Perirectal mass
Primary Amenorrhea-Vagina: Vaginal septum ?
Transverse
Longitudinal
blood behind membranes
Primary Amenorrhea-Vagina: Mullerian agenesis 46XX karyotype ?
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.
Approx. 1:5000
Congenital absence of the uterus and upper 2/3 of vagina
Normal secondary sex characteristics
May ovulate regularly
Vanishing testis syndrome, 46 XY characteristics ?
Failed gonadal development
Depends on timing during embryonic development
**it depend on when the ognadal development occurs correlating to the problem you will have **
5-alpha-reductase deficiency, 46 XY characteristics ?
Ambiguous genitalia or female
Puberty – develop male characteristics
**increased muscle mass and voice deepening ,
they cannot convert the testosterone **
17-alpha-hydroxylase deficiency, 46 XX or 46 XY
characteristics ?
Lacking adrenal and gonadal sex steroid production
HTN due to mineralocorticoid excess
Primary amenorrhea diagnosis ?
HCG
GYN exam - uterus present: PE/US
H/W/BMI/arm span
Skin: acne, striae. hirsutism
General appearance: low hairline , webbed neck
Primary amenorrhea diagnosis: GYN exam - absent uterus ? then what do you test ?
Karyotype and testosterone
Primary amenorrhea diagnosis: GYN exam - present uterus ? then what do you test ?
FSH
Breast Development
Tanner staging
Secondary amenorrhea
diagnosis ?
HCG
TSH
prolactin
FSH & E2
Progestin challenge test ( make sure ovaries are secreting estrogen)
Secondary amenorrhea
diagnosis: FSH normal/low, Low E2 ?
Hypothalamic
pituitary
systemic
Secondary amenorrhea
diagnosis: FSH high, Low E2 ?
Primary ovarian insufficiency
Secondary amenorrhea
diagnosis: FSH Low/normal, E2 normal ?
→ PCOS most likely
check Testosterone next
Secondary amenorrhea
diagnosis: Progestin challenge test ?
+ ovaries are secreting estrogen
-Estrogen and progestin challenge test
if this is neg then you are concerned with atromens
Amenorrhea Labs ?
HCG Pelvic US Prolactin TSH FSH E2 Testosterone LH
1 and 2 Amenorrhea tx ?
Correcting the underlying etiology :
- Counseling especially for primary
- Lifestyle changes and education
- Surgery may be required for anatomical lesions or gonadectomy
- Hormone therapy-primary ovarian insufficiency
If possible, achieve fertility
Amenorrhea tx. complications ?
Estrogen therapy to prevent osteoporosis
Amenorrhea complications ?
Infertility
Psychosocial developmental delays
Low estrogen can lead to severe osteoporosis and fractures
