Endo - Growth disorder Flashcards
At what too small centile should a child be reviewed by their GP?
Below 2nd centile for height
When should too short child on height centile be reviewed by the paediatrician?
Below 0.4th centile for height
What is delayed puberty for females?
No breast development by 13yo
or
No periods by 15yo
What is delayed puberty in males?
No testicular development (<4ml) by 14 yo
orchidometer - can ask the boys to check themsleves and report
What is Androgen insensitivity syndrome genetics?
46 XY
What is Androgen insensitivity syndrome?
Genotypically MALE but have
Phenotypically FEMALE
presents with primary amenorrhoea in a ‘girl’ with bilateral groin swellings = undescended testes
Growth faltering (centile dropping with age) also requires a referal depending on which centile they have been in:
> 75th centile referal rule?
25th - 75th centile referal rule?
<25th centile referal rule?
> 75th : when centile drops by 3
25th - 75th : wen centile drops by 2
<25th : when centile drops by 1
What is the most common cause of growth delay?
Constitutional delay of growth and puberty / function
COmmonest in boys
What is constitutional delay of growth and puberty?
Usually family history of delay in parent of same sex
What can cause delayed puberty?
Functional (family history)
Psychiatric (excersize, anorexia)
Hypogonadotrophic
Hypergonadotrophic
What are hypogonadotrophic causes of delayed puberty?
Low gonadotrophs meaning : Low FSH + LH
- Panhypopituitarism
- Intracranial tumours
**- Kallman’s syndrome **
Kallman : anosmia in boy with delayed puberty
What are hypergonadotrophic causes of delayed puberty?
Meaning high gonadotrophs - high FSH + LH meaning local issue:
- Kleinfelter’s syndrome (47XXY)
- Turner’s syndrome (45XO)
What charting are used to measure puberty in girls and boys?
Both: height and weight + mind-parental height
Boys : Prader’s orchidometer
Girls : Tanner’s staging
Bloods for investigation of delayed puberty?
LH + FSH
TSH
Prolactin
Testosterone
ALSO DO KARYOTYPING - diagnostic
What imaging can be done when investigating growth disorders?
Bone age - wrist X ray
+ MRI brain
How to manage constituional delays?
Reassure and offer observation
2nd line : short court of sex hormone therapy
- boys 6 months IM test
- girls 6 months transdermal oestrogen
How to manage primary testicular or ovarian failure?
Pubertal induction via regular hormone replacement
What is precocious puberty?
<8 years in females determined by breast development
What is precocious puberty in males?
<9 year old in males - determined by testicular development
What causes bilateral testes enlargement in boys?
GDPP - intracranial lesion
What causes unilateral testes enlargement
Gonadal tumour
What can cause small testes - gonadotrophin independent
Adrenal cause = CAH or tumour
- if there is testosterone being produced here then the testes dont have to produce so they get small
What gonadotrophin dependent cause of precocious puberty?
premature activation of HPG axis - raised FSH and LH
Can be CNS abnormalities, idiopathic in females
What are gonadotrophic independent causes of precocious puberty?
Increased LH + FSH
- gonadal tumours
- Adrenal - CAH/tumours
- McCune Albright syndrome
- Fibrous dysplasia
