1.

A rare, inherited disease of metabolism in which a person cannot break down

glycosaminoglycans. Possible cause of a large head.
a. Macrocephaly
b. Neurofibromatosis
c. Craniosynostosis
d. Hurler's syndrome
e. Plagiocephaly
2. Which of the following is FALSE regarding congenital adrenal hyperplasia?
a. Low androgen levels are experienced in utero
b. Prenatal treatment is possible
c. Prenatal diagnosis is possible
d. Females often experience psychosexual problems
e. Dexamethasone may be given to the mother around the time of conception
3. A genetically-transmitted disease in which nerve tissue grows tumors that may be
harmless or may cause serious damage by compressing nerves and other tissues.
a. Neurofibromatosis
b. Harmatosis
c. Gonadotrophis
d. Dissonance
e. Thelarchy
4. Premature pubarche occurs when pubic hair develops before age ___ in females and age
___ in males, but with no other signs of sexual development
a. 8,9
b. 11,12
c. 12,13
d. 9,10
e. 10,11
5. The commonest cause of ambiguous genetalia
a. Craniopharyngioma
b. Turner's syndrome
c. Kleinfelter's syndrome
d. congenital adrenal hyperplasia
e. androgen insensitivity syndrome
6. Contributes 40% of eventual height. GH is the main determinant of rate of growth during
this phase
a. pubertal phase
b. foetal phase
c. childhood phase
d. infantile phase
e. prandial phase
7. A disorder present at birth that involves poor growth, low birth weight, short height, and
differences in the size of the two sides of the body. 7-10% of patients have a defect in a
gene called the maternal uniparental disomy (UPD) for chromosome 7.
A, Russell-Silver syndrome
b. Turner's syndrome
c. Prader-Willi syndrome
d. Noonan's syndrome
e. Down's syndrome
8. Premature closing of joints or sutures in the skull
a. Plagiocephaly
b. Macrocephaly
c. Craniosynostosis
d. Hurler's syndrome
e. Neurofibromatosis
9. Diagnosis is made by finding markedly raised levels of the metabolic precursor of 17 alpha
hydroxyprogesterone in the blood
a. Kleinfelter's syndrome
b. congenital adrenal hyperplasia
c. Turner's syndrome
d. androgen insensitivity syndrome
e. Craniopharyngioma
10. Often presents with clitoral hypertrophy and fusion of the labia
a. Craniopharyngioma
b. Kleinfelter's syndrome
c. androgen insensitivity syndrome
d. congenital adrenal hyperplasia
e. Turner's syndrome
11. Consists of; craniosynostosis, midfacial hypoplasia, syndactyly of 2 to 5 digits. Associated
with ventricular septal defects, mental retardation and cleft palate. The underlying error is
in the fibroblast growth factor receptor II, encoded on chromosome 10.
a. Hurler's syndrome
b. Apert's syndrome
c. Crouzon's syndrome
d. Sotos syndrome
e. Beckwith syndrome
12. The pubertal growth spurt in boys peaks at ___ years
a. 12
b. 13
c. 15
d. 11
e. 14
13. Short stature is usually defined as height below the ____ or _____ centile
a. 0.2nd, 2nd
b. 2nd, 4th
c. 0.4th, 4th
d. 0.6th, 6th
e. 0.4th, 2nd
14. A chromosomal disorder affecting females in which all or part of one of the X
chromosomes is absent. Occurs in 1/2500 girls, characteristics include short stature,
lymphoedema, broad chest, low hairline, low-set ears, and webbed neck.
a. Turner's syndrome
b. Russell-Silver syndrome
c. Down's syndrome
d. Prader-Willi syndrome
e. Noonan's syndrome
15. Delayed puberty is often described as the absence of pubertal development by ___
years in females and ___ years in males.
a. 14,15
b. 16,17
c. 15,16
d. 13,14
e. 12,13
16. Associated with 45XO karyotype
a. Turner's syndrome
b. Marfan's syndrome
c. Russell-Silver Syndrome
d. Noonan's syndrome
e. Down's syndrome
17. In the absence of _____ the gonads become ovaries and
the genetalia female
a, RYS
b. SYR
c. RSY
d. SRY
e. YRS
18. The first sign of puberty in males
a. breaking of voice
b. facial hair growth
c. height spurt
d. pubic hair growth
e. testicular enlargement > 4ml
19. Calculated by subtracting sitting height from total height
a. humeral height
b. subischial leg length
c. leg arm ratio
d. mid parental height
e. extrapolitative height
20. Characterised by a rapid but decelerating growth rate and accounts for about 15% of
a. eventual height
b. pubertal phase
c. infantile phase
d. foetal phase
e. prandial phase
f. childhood phase
21. A histologically benign, extra-axial, slow-growing tumor that predominantly involves the
sella and suprasellar space. May result in abnormal visual fields. It is associuated with short
stature.
a. Fundoma
b. Choroidmelanoma
c. Meninganioma
d. Craniopharyngioma
e. Panhypopiturioma
22. The most common cause of delayed puberty in males is
a. cystic fibrosis
b. Crohns's disease
c. Panhypopituitarism
d. constitutional delay
e. Kallman syndrome
23. Babies are born large, macrosomic, and grow into very large infants. Characterised by
exomphalos, macroglossia, and gigantism
a. Homocystinuria
b. Sotos syndrome
c. Kleinfelter's syndrome
d. Marfan's syndrome
e. Beckwith syndrome
24. Which of the following tests would be most useful in disgnosing coeliac or chron's
disease?
a. FBC
b. GH provocation test
c. TSH
d. X-ray
e. Endosymal and Gliadin antibodies
25. With regards to management of congenital adrenal hyperplasia, which of the following
is FALSE?
a. mineralocorticoids are required if there is salt loss
b. additional hormone replacement is needed to cover illness or surgery
c. lifelong glucocorticoids are required
d. Growth and skeletal maturity should be monitored
e. excessive hormone replacement will result in accelerated growth
26. The fastest period of human growth
a. prandial
b. pubertal
c. infantile
d. childhood
e. foetal
27. On UK growth charts, values below the 0.4th or above the 99.6th centile will occur by
chance in only _______ children
a. 4 per 100
b. 4 per 10000
c. 4 per 1000
d. 6 per 100
e. 6 per 1000
28. A possible cause of delayed puberty, ____________ is a condition caused by a
chromosome aneuploidy. Affected individuals have at least two X chromosomes and at least
one Y chromosome.
a. Kallmann syndrome
b. Sotos syndrome
c. Beckwith syndrome
d. Turner's syndrome
e. Klinefelter's syndrome
29. The most common cause of short stature
a. Constitutional delay
b. Endocrine
c. Familial
d. Hypothyroidism
e. GH deficiency
30. Which of the following is not a chronic illness associated with short stature?
a. Hyperthyroidism
b. Coeliac disease
c. Chron's disease
d. Cystic fibrosis
e. Chronic renal failure
31. Affects both males and females. Features include congenital heart malformation, short
stature, learning problems, indentation of the chest, impaired blood clotting, and a
characteristic configuration of facial features.
a. Turner's syndrome
b. Noonan's syndrome
c. Russell-Silver syndrome
d. Prader-Willi syndrome
e. Down's syndrome
32. Results from disruption of chromosome 15. Children with this condition suffer constant
hunger
a. Prader-Willi syndrome
b. Down's syndrome
c. Noonan's syndrome
d. Russell-Silver syndrome
e. Turner's syndrome
33. The pubertal growth spurt in girls peaks at ___ years
a. 12
b. 11
c. 14
d. 13
e. 15
34. A connective tissue disease with an autosomal dominant inheritance and an incidence of
4-6 per 100,000. Typical musculoskeletal features include limbs disproportionately long for
the trunk, scoliosis, and a high-arched narrow palate with laxity of the joints.
a. Marfan's syndrome
b. Kleinfelter's syndrome
c. Beckwith syndrome
d. Homocystinuria
e. Sotos syndrome
35. The first sign of puberty in females
a. breast development
b. menarche
c. rapid height spurt
d. pubic hair growth
e. development of acne
36. The sutures of the skull bones do not normally finally fuse until about _____ of age
a. 2 years
b. 5 years
c. 9 years
d. 12 months
e. 12 years
37. Breast development
a. Menarche
b. Thelarche
c. Pubarche
c. Gynarche
e. Mammarche
38. Which of the following tests would be most useful in diagnosing Chronic renal failure?
a. Creatinine and electrolytes
b. GH provocation test
c. Endosymal and Gliadin antibodies
d. TSH
e. FBC
39. A rare autosomal recessive disorder of methionine metabolism. Clinical features include
fine and fair hair, joint enlargement and skeletal abnormalities, and ocular complications.
a. Beckwith syndrome
b. Sotos syndrome
c. Marfan's syndrome
d. Homocystinuria
e. Kleinfelter's syndrome
40. Presents in childhood with characteristic facial appearance, developmental delay and
tall for age. Increased growth, which starts prenatally, rapid in the first 2-3 years, stabilising
after 5 years, and reaching normal adult height
a. Kleinfelter's syndrome
b. Beckwith syndrome
c. Homocystinuria
d. Sotos syndrome
e. Marfan's syndrome
41. Central precocious puberty in males, is usually
a. familial
b. idiopathic
c. due to an organic cause
d. due to dissonance
e. iatrogenic
42. Seen in Prader-Willi syndrome and congenital hypopituitarism which results in a small
penis and cryptorchidism
a. Turner's syndrome
b. congenital adrenal hyperplasia
c. androgen insensitivity syndrome
d. Craniopharyngioma
e. gonadotropin insufficiency
43. Luteinizing hormone-releasing hormone deficicncy and inability to smell - a cause of
delayed puberty
a. Sotos syndrome
b. Beckwith syndrome
c. Kallmann syndrome
d. Turner's syndrome
e. Klinefelter's syndrome
44. The most common cause of male hypogonadism with an incidence of approximately 1 in
1000 male births. Individuals have an extra X chromosome. Usually, the karyotype is 47, XXY
a. Sotos syndrome
b. Marfan's syndrome
c. Homocystinuria
d. Beckwith syndrome
e. Kleinfelter's syndrome
45. A craniofacial dysostosis characterised by: craniosynostosis, mid-face hypoplasia, with
hypotelorism, shallow orbits, and proptosis. The genetic defect is in the gene for fibroblast
growth factor receptor 2.
a. Beckwith syndrome
b. Apert's syndrome
c. Hurler's syndrome
d. Sotos syndrome
e. Crouzon's syndrome
46. May be difficult to diagnose clinically and should be considered in all females with short
stature
a. Turner's syndrome
b. Russell-Silver Syndrome
c. Down's syndrome
d. Noonan's syndrome
e. Marfan's syndrome
47. Asymmetrical head shape with flattening on one side
a. Macrocephaly
b. Plagiocephaly
c. Neurofibromatosis
d. Craniosynostosis
e. Hurler's syndrome
Key
1. D
2. A
3. A
4. A
5. D
6. C
7. A
8. C
9. B
10. D
11. B
12. E
13. E
14. A
15. A
16. A
17. D
18. E
19. B
20. B
21. D
22. D
23. E
24. A
25. E
26. E
27. C
28. E
29. C
30. A
31. B
32. A
33. A
34. A
35. A
36. E
37. B
38. A
39. D
40. D
41. C
42. E
43. C
44. E
45. E
46. A
47. B