Case pres and GH axis

Question 2

Achondroplasia

Answer 2

«Disproportional growth failure« short limbs« normal Growth Hormone levels« no response to GH treatment« FGFR3 mutation

Question 3

Malabsorption syndrome

Answer 3

 Proportional growth failure GH normal eg gluten-sensitive enteropathy, coeliac disease–> delayed bone age on growth chart prompt growth response to gluten-free diet

Question 4

Classic growth hormone deficiency

Answer 4

proportionate growth failure immature face truncal obesity (inc wasit:hip ratio) little or no GH decreased muscle mass + strength 1:4000 prevalence usually iodiopathic hypothalamic disorder? GHRH not–> pituitary treatment: recombinant GH

Question 5

Laron Dwarfism

Answer 5

proportionate limb growth  immature face excessively short GH normal/raised IGF-1 low as receptors non responsive to GH. cannot treat with GH depressed nasal bridge

Question 6

Hypothyroidism

Answer 6

 short limbs not achieving full growth potential GH low T3/T4 low

Question 7

Juvenile Cushing’s Syndrome

Answer 7

 proportionate limbs not achieving full growth potential truncal obesity symptoms of cortisol excess GH low

Question 8

Pseudohypoparathyroidism

Answer 8

 proportionate limbs not achieving full growth potential round face short 4th metacarpal high PTH but renal resistance to PTH normal GH may have kyphosis, mental retardation

Question 9

Turner’s Syndrome

Answer 9

 XO short stature webbed neck

Question 10

Precocious puberty

Answer 10

 early sexual and reproductive maturity initial rapid growth but stops early premature epiphyseal fusion don’t reach full growth potential

Question 11

Delayed puberty

Answer 11

 puberty after 15 years prevalence 1:50 (M:F, 6:1) slowing growth around 10 yrs height falls below 3rd centile bone age delayed by 2 yrs  LH/FSH low GH normal catch-up growth occurs reaches full growth potential

Question 12

Anorexia nervosa

Answer 12

 prevalence 1:100 for females hypothalamic turn-off low GnRH release fasting GH and cortisol elevated

Question 13

Intrauterine growth retardation

Answer 13

 low birth weight placental insufficiency? poor catch up growth

Question 14

Cranial irradiation

Answer 14

 e.g. for leukaemia or brain tumours pituitary particularly radiation sensitive low GH decreased growth velocity

Question 15

Chronic illness

Answer 15

 congenital cardiac disease chronic obstructive or infective pulmonary disease chronic renal failure

Question 16

Psychosocial deprivation

Answer 16

 emotional and social upheaval hypothalamic turn off? lack of GHRH?

Question 17

Gigantism

Answer 17

 surpasses growth potential proportional limb growth high prepubertal GH poor prognosis if not treated delayed puberty can further increase height

Question 18

Acromegaly

Answer 18

 high GH (IGF-1) post puberty no increase in linear growth increased foot and hand size coarsening of facial features: prominent frontal ridge and prognathism

Question 19

What other factors influence GH production?(3)

Answer 19

1. PTH2. T3/T43. cortisol