Cf Peds Ch 5 Xy Disorders

Front 1

1. Klinefelter Syndrome XXY symptoms?

Back 1

a. Behavioural problems (immaturity, insecurity)
b. Developmental delay (speech, language, lower IQ)- they tend to underachieve in reading, spelling, and math.
c. Physical findings (gynecomastia, hypogonadism, long limbs)

Front 2

2. IQ in Klinefelter?

Back 2

a. Their verbal IQ may be normal but their verbal IQ is impaired.
b. In pts w/multiple X chromosomes, the incidence and severity of MR increases.

Front 3

3. When is mental retardation diagnosed by?

Back 3

a. 18 yrs.

Front 4

4. Causes of MR?

Back 4

a. Preconceptual and early embryonic disruptions (teratogens, chromosomal abnormalities, placental dysfunction, congenital CNS malformations)
b. Fetal brain insults (infections, toxins, placental problems)
c. Perinatal difficulties (prematurity, metabolic disorders, infections)
d. Postnatal brain injuries (infections, trauma, metabolic disorders, toxins, poor nutrition.
e. Misc: Postnatal family difficulties (poverty, poor caregiver-child interaction, parenteral mental illness)

Front 5

5. When is Klinefelter usually diagnosed?!?

Back 5

a. Often goes unidentified until puberty bc of the subtleness of the clinical findings.
b. The diagnosis should be considered for all boys (regardless of age) who have been identified as having mental retardation, school, or adjustment problems.

Front 6

6. Physical findings to be considered in pts w/nonspecific MR?

Back 6

a. Size of the occiput
b. Unusual hair colour or distribution
c. Distinctive eyes
d. Malformed ears or nose
e. Abnormalities in jaw size, mouth shape, or palate height
f. The hands and feet may have short metacarpals or metatarsals, overlapping or supernumerary digits, and abnormal creases or nails.

Front 7

7. Symptoms of Klinefelter?

Back 7

a. Pts are tall, slim, and thin with long extremities.
b. Their testes and sometime the phallus are small for age, but these latter findings may not become apparent until puberty.

Front 8

8. S/S of Klinefelter in adults?

Back 8

a. Develop gynecomastia
b. Sparse facial hair
c. Azoospermia.
d. The incidence of breast cancer (as well as some Haematologic cancers) is elevated in Klinefelter syndrome.

Front 9

9. S/S of XYY-males?

Back 9

a. Often have explosive tempers (often antisocial behaviour)
b. Weakness with poor fine motor control
c. Long and Asymmetric ears
d. Large teeth
e. Prominent glabella
f. Severe acne
g. Increased length versus breadth for the hands, feet, and cranium
h. Mild pectus excavatum.
i. By age 5-6, they tend to be taller than their peers and begin displaying aggressive or defiant behaviour. (accelerated growth in mid-childhood)

Front 10

10. S/S of Turner syndrome 45XO?

Back 10

a. Short stature
b. Amennorhea
c. Excessive nuchal skin
d. Low posterior hairline
e. Broad chests w/widely spaced nipples
f. Cubitus valgus
g. Coarctation of the aorta (notching under ribs)
h. HTN is common, possibly due to renal abnormalities (Horseshoe kidney)

Front 11

11. Most common form of inherited mental retardation?

Back 11

a. Fragile X.
b. Seen primarily in boys.

Front 12

a. Fragile X.
b. Seen primarily in boys.

Back 12

a. MR
b. Macrocephaly
c. Long face
d. High arched palate
e. Large ears
f. Macroorchidism after puberty.

Front 13

13. How is prematurity related to MR?

Back 13

a. Prematurity, esp when earlier than 28 wks, is associated w/complications (such as intraventricular haemorrhage) that can result in developmental delay and low IQ.

Front 14

14. Best diagnostic test for Klinefelter?

Back 14

a. Karyotype.

Front 15

15. Complete

Back 15

15. Complete