Growth Disorders

Question 1

How do you measure the mid-parental height in girls /boys

What is the formulae

Answer 1

Boys. Fathers ht + (mum+13cm)/2

Girls Mothers ht + (dads Ht -13cm)/2

Question 2

Investigations in short statue (4)primary

Secondary 3

Answer 2

1 bone age X-ray left wrist
2 karyotype esp in girls (turners syndrome)
3SHOX
4 Fbc/diff TSH /Growth hormone /ELFTS Ca++?PPhos Urine
Random growth hormone no help

2econd line
GH stimulation test
Head imaging MRI
Skeletal survey

Question 3

Growth hormone def signs in the neonate

Answer 3

Hypoglycemia
Jaundice
Micro penis ( males <2.5cm)

Question 4

Growth hormone def in childhood signs

Answer 4

Growth failure
Headache or signs of a tumor

Phenotype of syndrome of growth hormone def 
Mid face hypoplasia 
Delayed teeth detention 
Increased truncal fat 
Males micro penis <2.5cm

Question 5

Growth hormone deficiency criteria for GH treatment PBS

Answer 5

Severe short stature. Males 140cm

Females 130cm predicted ht if untreated

Question 6

Investigate /refer short statue when

Answer 6

Height 3SD below the mean or <6cm below the 3rd centipede

Question 7

Bone age on X-ray tells us what

Answer 7

Indicator or skeletal /biological maturity
Delayed in growth disorders
Tells us the severity of the growth problem
Tells us the remaining growth potential
Ht prognosis

Question 8

What does growth hormone treatment do

Answer 8

Promotes short term catch up in short kids
Allows them to reach their genetic ht potential
Corrects neonatal hypoglycemia
Improves QOL

Initial dramatic response first 6months
Catch up wanes over time
Worry about side effects raised ICP/ slipped cap fem epiphysis
No evidence of tumor recurrence

Question 9

Turners syndrome features 1/2500

Important cause of short statue in girls need to do a karyotype

Answer 9

Short stature. ( untreated ht=143cm (20cm less than av height)

Question 10

Treatment of turners syndrome

Answer 10

Growth hormone as early as possible
Pubertal induction about 12 years
Ca++ 1000mg /day
Audiology every 3 years /5years
ECHO every 5 years
Investigate the phenotype as it influences the phenotype growth and malignancy risk
At birth renal USS ECG cardiac ECHO cardiac and aortic arch MRI
Prior to Growth hormone starting assess for diabetes risk Hba1c

Question 11

Constitutional delay is short statue and delayed puberty with no cause found What are the DD. Should we treat with growth hormone?
What should we do?

Answer 11

Growth hormone def
Gonadotrophine def primary gonads
2ary pituitary
3ary hypothalamus

2 growth hormone treatment not indicated
3 can watch and wait
4 can use oral testosterone or IMI or patches to prime the GPH

Question 12

Tall statue causes

Answer 12

Famial
Endocrine   Growth hormone excess/ percousious puberty/ hyperthyroid
Chromosomal XXY kleinfelters 
Fragile X. 
Marfans

Question 13

Investigate tall statue

Answer 13

Bone age X-ray
Karyotype
TSH/ IgF

Question 14

Marfans syndrome characteristics

Answer 14

Tall 
long limbs
 loose joints
 arachnoidatally
Autosomal dominant 
Eye lens and Aorta

Question 15

Pituitary giantism

Answer 15

Caused by a pituitary adenoma

Very tall very muscular and puberty has just only begun