Abnormal growth and pubertal development

Question 1

Main causes of short stature?

Answer 1

under nutrition 
Chronic- JCA, IBD, coeliac
Iatrogenic - steroids
psychosocial and social 
Hormonal (GHD, hypothyroidism, glucocorticoid excess)
syndromes (Turner P-W, Noonan, phpt)
- skeletal dysplasias

Question 2

Short and obese child can be?

Answer 2

hypothyroid

- thyroxine replacement

Question 3

Turner syndrome girls karyotype

Answer 3

45X0

Question 4

Features of Turney syndrome in female

• associated disorders?

Answer 4

short stature
ovarian dysgenesis

• cardiac, renal , thyroid, ENT (glue ear)
• learning difficulties

Question 5

Features of Prader- Will syndrome?

Answer 5

infantile hypotonia 
feeding problems
hyperplasia
obesity in childhood
short stature
developmental delay 
hypogonadism 

-give GH

Question 6

Prader- Will syndrome has a deletion of what?

Answer 6

15q11-q13

Question 7

Noonan syndrome features

Answer 7

facial features - low set ears, long filtrum, spaced eyes, ptosis
short statures
- congenital heart disease - Pul valve stenosis

• give gh

Question 8

most common skeletal dysplasia?

Answer 8

Achondroplasia (dwarfism)

Question 9

what can cause delayed puberty?

late puberty?

Answer 9

Crohn’s, asthma, impaired HPG axis (sept-optic dysplasia, craniopharyngioma, kallman’s syndrome)

primary gonadal disorder (dysgenesis) , turners, Klinefelter’s, DSD, testicualr irradiation

Question 10

breast development? - hypothalamic activation

- axis activation?

Answer 10

infantile Thelarche
premature Thelarche
- central precocious puberty

Question 11

older children can present with secondary sexual characteristics such as?

Answer 11

• pubic and axillary hair

sex steroid hormone secretion from adrenal glands
- congenital adrenal hyperplasia

Question 12

PV bleeding is?

Answer 12

premature menarche

Question 13

Central (TRUE) precocious puberty children present with ?

Answer 13

breast development
testes growth in males

growth spurt
advanced bone age

need to exclude pituitary lesion - MRI

Question 14

secondary sexual characteristics development - precocious pseudo puberty - what is this caused by? what must you rule out?

Answer 14

gonadotrophin independent (low LH and FSH)
- EARLY adrenarche

• congenital adrenal hyperplasia - need treatment as children will be short - urine and blood test

Question 15

Assessment of obese child?

Answer 15

weight
BMI
height
waist 
skin folds
history and examination 
complicaitons

Question 16

what to look for on examination- what will insulin resistance show as?

Answer 16

Acanthosis nigricans

Question 17

complications of obesity?

Answer 17

fatty liver disease
sleep apnoea
GORD
stress incontience
LVH
RSHF

Question 18

causes of obesity?

Answer 18

simple obesity - food intake

• drugs- anti-epileptics
• endocrine disorders
• hypothalamic damage

Question 19

hypothalamic causes?

Answer 19

loss of appetite control