Sex Chromosome abnormalities

Question 1

Monosomy X ?

Answer 1

45 X

Question 2

Turners Syndrome ?

Answer 2

45 XO

Question 3

Klinefelter syndrome ?

Answer 3

47 XXY

Question 4

Klinefelter syndrome characteristics ?

Answer 4

Most common sex chromosome causing hypogonadism

Tall stature
Small testes
Infertility
Noted at puberty

Question 5

47 XYY characteristics ?

Answer 5

Tall stature

Mild delay but generally educated in mainstream schools

Normal pubertal development

Most are fertile

Question 6

Most common sex chromosome abnormality in females ?

Answer 6

47 XXX

Question 7

47 XXX characteristics ?

Answer 7

Tall stature, puberty and fertility normal

Premature ovarian insufficiency can occur

Question 8

Trisomy 21 ?

Answer 8

Downs syndrome

**originates from the mom and due to increased maternal age **

Question 9

Trisomy 18 ?

Answer 9

Edwards syndrome

• *severe intellectual disability and usually die within first 2 weeks of life and some survive for a year
• *

Question 10

Trisomy 13 ?

Answer 10

Patau syndrome

** dont survive usually past the first month
absent eyes **

Question 11

Patau syndrome triad ?

Answer 11

Micro/anophthalmia

cleft lip or palate

postaxial polydactyly

Question 12

Cri du Chat- cat cry syndrome pathology ?

Answer 12

Partial deletion short arm of chromosome 5

Question 13

Cri du Chat- cat cry syndrome characteristics ?

Answer 13

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 **

Question 14

46, XY Karyotype: Testicular feminization pathology ?

Answer 14

Testicular feminization

Complete androgen insensitivity syndrome

X linked recessive trait

Androgen receptors absent or defective- testosterone resistance

Question 15

46, XY Karyotype: Testicular feminization characteristics ?

Answer 15

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

Question 16

46, XY Karyotype
Swyer syndome (gonadal dysgenesis) pathology ?

Answer 16

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

Question 17

Turners Syndrome- 45 XO

variants ?

Answer 17

45 XO, XX mosaics

Question 18

Turners Syndrome- 45 XO

what happens to the ovaries ?

Answer 18

ovaries will be replaces with fibrous tissues

mosaics may menstruate briefly

Question 19

Turners Syndrome- 45 XO characteristics ?

Answer 19

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

Question 20

One of the most common causes of Secondary Amenorrhea usually present with oligomenorrhea ?

Answer 20

PCOS

Question 21

PCOS diagnosis criteria ?

Answer 21

Rotterdam

Question 22

Rotterdam criteria- 2 out of the 3 following ?

Answer 22

Hyperandrogenism, clinical or biochemical

Oligo or anovulation

Polycystic ovaries by ultrasound

Question 23

Primary Amenorrhea-Uterine ?

Answer 23

Congenital anatomic lesions of uterus

Question 24

Secondary Amenorrhea-Uterine ?

Answer 24

Asherman Syndrome

Question 25

Asherman Syndrome characteristics ?

Answer 25

Only secondary uterine cause Due to uterine scarring Secondary to postpartum hemorrhage, endometritis, D&C, infected products of conception

Question 26

Primary Amenorrhea-Vagina causes ?

Answer 26

Imperforate hymen Vaginal septum Vaginal agenesis Mullerian agenesis 46XX karyotype

Question 27

Primary Amenorrhea-Vagina: Imperforate hymen ?

Answer 27

Menstruation efflux can not occur Cyclic abdominal pain Perirectal mass

Question 28

Primary Amenorrhea-Vagina: Vaginal septum ?

Answer 28

Transverse Longitudinal blood behind membranes

Question 29

Primary Amenorrhea-Vagina: Mullerian agenesis 46XX karyotype ?

Answer 29

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

Question 30

Vanishing testis syndrome, 46 XY characteristics ?

Answer 30

Failed gonadal development Depends on timing during embryonic development **it depend on when the ognadal development occurs correlating to the problem you will have **

Question 31

5-alpha-reductase deficiency, 46 XY characteristics ?

Answer 31

Ambiguous genitalia or female Puberty – develop male characteristics **increased muscle mass and voice deepening , they cannot convert the testosterone **

Question 32

17-alpha-hydroxylase deficiency, 46 XX or 46 XY | characteristics ?

Answer 32

Lacking adrenal and gonadal sex steroid production HTN due to mineralocorticoid excess

Question 33

Primary amenorrhea diagnosis ?

Answer 33

HCG GYN exam - uterus present: PE/US H/W/BMI/arm span Skin: acne, striae. hirsutism General appearance: low hairline , webbed neck

Question 34

Primary amenorrhea diagnosis: GYN exam - absent uterus ? then what do you test ?

Answer 34

Karyotype and testosterone

Question 35

Primary amenorrhea diagnosis: GYN exam - present uterus ? then what do you test ?

Answer 35

FSH Breast Development Tanner staging

Question 36

Secondary amenorrhea | diagnosis ?

Answer 36

HCG TSH prolactin FSH & E2 Progestin challenge test ( make sure ovaries are secreting estrogen)

Question 37

Secondary amenorrhea | diagnosis: FSH normal/low, Low E2 ?

Answer 37

Hypothalamic pituitary systemic

Question 38

Secondary amenorrhea | diagnosis: FSH high, Low E2 ?

Answer 38

Primary ovarian insufficiency

Question 39

Secondary amenorrhea | diagnosis: FSH Low/normal, E2 normal ?

Answer 39

→ PCOS most likely check Testosterone next

Question 40

Secondary amenorrhea | diagnosis: Progestin challenge test ?

Answer 40

+ ovaries are secreting estrogen -Estrogen and progestin challenge test if this is neg then you are concerned with atromens

Question 41

Amenorrhea Labs ?

Answer 41

``` HCG Pelvic US Prolactin TSH FSH E2 Testosterone LH ```

Question 42

1 and 2 Amenorrhea tx ?

Answer 42

Correcting the underlying etiology : 1. Counseling especially for primary 2. Lifestyle changes and education 3. Surgery may be required for anatomical lesions or gonadectomy 4. Hormone therapy-primary ovarian insufficiency If possible, achieve fertility

Question 43

Amenorrhea tx. complications ?

Answer 43

Estrogen therapy to prevent osteoporosis

Question 44

Amenorrhea complications ?

Answer 44

Infertility Psychosocial developmental delays Low estrogen can lead to severe osteoporosis and fractures