Pediatric Genetic Disorders

Question 1

Explain the problem in Turner’s Syndrome

What is the genetic makeup?

Answer 1

Females with an absent or nonfunctional X sex chromosome

X monosomy (45, XO)

Question 2

What are some symptoms of Turner’s Syndrome?

What diagnostics can be done? (There is a definitive and then others)

Answer 2

-Hypogonadism: gonadal dysgenesis, streaked ovaries leading to early ovarian failure, absence of breasts, short stature, webbed neck, broad chest with widely spaced nipples, coarctation of aorta, infertility

Karyotyping is definitive
Low estrogen + high FSH and LH

Question 3

What is the treatment for Turner’s Syndrome?

Answer 3

-Recombinant human growth hormone replacement

Question 4

On the other hand, what is the problem in Klinefelter’s Syndrome?

What is the genetic makeup of this condition?

Answer 4

Males with an extra, inactive X chromosome

(47, XXY)

Question 5

Symptoms of Klinefelter’s Syndrome

What labs can be drawn for this condition?

What treatment can help with the characteristics?

Answer 5

Tall stature, Eunuchoid features (tall, slim, underweight, long legs and arms). Hypogonadism (small testicles, gynecomastia), infertility, obesity in adulthood

-Low serum testosterone, increased FSH, LH, and estradiol

Testosterone

Question 6

Fragile X Syndrome is the MC gene-related cause of _______

What are some symptoms of this condition?

Answer 6

MC gene-related cause of Autism

Large ears, macro-orchidism (enlarged testicles), long and narrow face, severe intellectual disability. Macrocephaly. Prominent forehead and chin.

Question 7

What is the pathophysiology of Ehlers Danlos Syndrome (EDS)?

Symptoms of EDS

Answer 7

-Abnormal collagen production affecting tendons, ligaments, skin, blood vessels, eyes, and other organs.

-Skin hyper extensibility
-Fragile connective tissue: MVP, Aneurysm rupture (MCC of death)
-Joint hyper mobility: dislocations and subluxations, pectus excavatum.
-Smooth, velvety, doughy skin that bruises easily. Delayed wound healing.
-Metenier’s Sign: upper eyelids evert easily

Question 8

Marfan Syndrome, caused by a mutation of the _______ gene, leads to _______

Answer 8

fibrillin-1 gene leads to weakened connective tissue

Question 9

What are symptoms of Marfan Syndrome?

What is a medication you can give these patients to avoid the aortic root dilation?

Answer 9

-MVP, progressive aortic root dilation (aortic regurgitation)
-Tall stature, arachnodactyly (long, lanky fingers, arms, and legs)
-Joint laxity
-Pectus carinatum
-Ectopia lentis (dislocation of lens of the eyes)
-Myopia (nearsighted)

-BB***

Question 10

Symptoms of Trisomy 21

Answer 10

-Prominent epicanthal folds
-Brushfield spots (white, grey spots on iris)
-Transverse, singular palmar crease (Simian crease)
-Atrioventricular septal defects, ToF, PDA
-Hirschsprung disease, esophageal atresia
-Increased space between first and second toes (sandal gap deformity)
-Open mouth, protruding tongue, up slanting palpebral fissures

Question 11

What biochemical marker is LOW during prenatal screening in Trisomy 21?

What can be done at weeks 10-13 that, in Trisomy 21, shows increased thickness.

Answer 11

PAPP-A is LOW with Down Syndrome

Nuchal translucency ultrasound