Loading....
Coupon Accepted Successfully!

Paediatric

Open Flashcards

Genetic Disorders

Question
17 out of 49
 

Which ofthe following hormones are raised in Prader- Willi syndrome - (AIIMS Nov 2013)



A Growth Hormone (GH)

B Leutinizing Hormone (LH)

C Follicle Stimulating Hormone (FSH)

D Ghrelin

Ans. D

Ghrelin

o Prader willi Syndrone is associated with elevated circulating levels of Ghrelin.

Prader Willi Syndrome

o Hypotonia (severe hypotonia with poor suck and failure to thrive in early infancy)

o Hyperphagia and Obesity (may be related to elevated Ghrelin tevels)

o Hypogonadotrophic Hypogonadism (CnRH;FSH; LH)

• Genital Hypoplasia (small penis, hypoplastic scrotum and cryptorchidism) in males.

• Genital Hypoplasia (small labia minora and clitoris) in females.

• Pubertal insufficiency.

o Short stature (GH levels)

o Cognitive impairment (usually mild mental retardation) and distinctive behavioral phenotupe such as temper tantrums & obsessive compulsive behavior.

o Characteristic facial appearance includes narrow bifrontal diameter, ‘almond’ shapped palpebral fissure and a down turned mouth with a thin upper lip.

Genetic Disorders Flashcard List

49 flashcards
1)
2)
3)
4)
5)
6)
7)
8)
9)
10)
11)
12)
13)
14)
15)
16)
17)
18)
19)
20)
21)
22)
23)
24)
25)
26)
27)
28)
29)
30)
31)
32)
33)
34)
35)
36)
37)
38)
39)
40)
41)
42)
43)
44)
45)
46)
47)
48)
49)