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Human Development 2 > Endocrine disorders of development and growth > Flashcards

Endocrine disorders of development and growth Flashcards

1
Q

when do individuals need further assessment of growth

A

Where weight or height or BMI is below the 0.4th centile, unless already fully investigated at an earlier age.

If the height centile is more than 3 centile spaces below the mid-parental centile.

A drop in height centile position of more than 2 centile spaces, as long as measurement error has been excluded.

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2
Q

why is monitoring heigh and weight important

A

Monitoring height and weight is useful to identify disorders affecting growth

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3
Q

what are the requirements for normal human growth

A
  • Absence of chronic disease
  • Emotional stability, secure family environment.
  • Adequate nutrition
  • Normal hormone/growth factor actions
  • Healthy growth plates.
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4
Q

what 4 aspects to you use to evaluate short stature

A
  • heigh centile versus weight centile
  • when it started
  • body proportions
  • presenting signs
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5
Q

describe the 4 aspects that you use to evaluate short stature

A
  1. Height centile vs weight centile.
    • Failure to thrive vs failure to grow.
2.	When started.
•	In utero
•	In infancy
•	In childhood
•	In puberty
  1. Body proportions.
    • Primary or secondary growth disorder
  2. Presenting signs.
    • Idiopathic
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6
Q

what are the phases of growth in the ICP model and what causes the growth

A

Infancy: rapid growth (nutritionally determined, up to two years).

Childhood: relatively steady (primarily regulated by GH and T4).

Puberty: acceleration and then cessation (GH, sex steroids, T4).

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7
Q

How do you calculate height velocity

A
  • Serial height

- Plotted over time

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8
Q

what is a primary growth disorder

A

Primary growth disorders include clinically-defined syndromes such as Turner’s and Cornelia de Lange, children who are small for gestational age (SGA) with failure to catch up, and skeletal dysplasias.

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9
Q

what is a secondary growth disorder

A

A secondary growth disorder is a condition where there is an identifiable cause. Examples include: Disease e.g. disorder of the pituitary gland. Hormonal issues e.g. growth hormone deficiency.

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10
Q

What an cause disproportionate growth

A

Skeletal dysplasia

  • achondroplasia
  • hydrochondroplasia
  • leri-welli dyschonrosteosis

rickets - caused by Vitamin D deficiency

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11
Q

List three types of skeletal dysplasia

A
  • achondroplasia
  • hydrochondroplasia
  • leri-welli dyschonrosteosis
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12
Q

how do you know the body portions are disproportions

A
  • calculate Standard deviation difference

Subiscial length SDS
LESS
Sitting height SDS

Followed by skeletal survey:
Skull
Spine
Pelvis
Upper limb
Lower limb
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13
Q

what is the equation for the standard deviation score

A

SD = measurement - mean / SD at relevant age

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14
Q

What are the three classification of limb shortening

A
  • rhizomelic
  • mesmeric
  • acromelic
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15
Q

what mutation causes achondroplasia

A

FGFR3 Mutations

= autosomal dominant

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16
Q

what does achondroplasia do

A
  • Inhibits ossification at growth plates

- Lack of long bone elongation

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17
Q

what is the mutation in hypochondroplasia

A

Also caused by mutations in FGFR3 other than the 1138 position.

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18
Q

describe characteristics of hypochondroplasia

A

Affects structure and function of receptor
Features milder than achondroplasia:
- Short stature noticed later

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19
Q

describe the genetics of leri-weill dyschondrosteosis

A
  • it is an autosomal dominant skeletal dysplasia
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20
Q

describe the characteristics of leri-weille dyschondrosteosis

A

Mesomelic (mid parts) limb shortening

Reduced subischial length

Madelung deformity of the forearm

  • Bowing of the radius
  • Dorsal dislocation of the ulna
  • Premature epiphyseal fusion
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21
Q

what does madeulung deformity consist of

A
  • Bowing of the radius
  • Dorsal dislocation of the ulna
  • Premature epiphyseal fusion
22
Q

who has madeulung deformities

A

Present in
50-74% of LWD
3-7% of Turners
1-3% of Idiopathic Short Stature

23
Q

what is the most important cause of short stature in humans

A

SHOX Haploinsufficiency/Phenotypes
• Most important monogenic cause of short stature in humans.
o Found in 1:1000.
• Wide range: idiopathic short stature and LWD.

24
Q

what can cause propionate growth failure

A
  • psychosocial assessment = psychical growth retardation
  • Syndrome features karyotypes = such as turners syndrome, Noonan, Williams
  • tests for systemic disorders = such as chronic renal insufficiency, gastrointestinal disease, nutritional deficiency

test for endocrine disorder s= hypothyroidism and hypercortisolism

25
Q

what is missing in the turners syndrome

A

• Missing whole/part of X syndrome.

26
Q

what do people with Turner syndrome benefit from

A
  • benefit from growth hormone but early diagnosis is key
27
Q

why do all short stature girls need karyotype analysis

A
  • to scan for Turner syndrome so they can be given growth hormone
28
Q

what are the phenotypes of turner syndrome

A
  • short stature due to SHOX haplo-insufficiency
  • webbed neck
  • shield chest, widely spaced nipples
  • cubitus valgus
  • lymphedema of the hands
  • shortening of 4th/5th metacarpal
  • knocked knees
  • gonadal dysgensis
29
Q

how should you manage someone with syndromic short stature

A

Be familiar with genetic syndromes that cause short stature

Diagnosis is based on clinical findings and dysmorpic features

Refer to geneticist if necessay

Genetic testis may help especially in atypical cases

30
Q

How do you test for endocrine disorder s

A 
Complete blood count 
ESR
sodium, potassium, chloride, bicarbonate
calcium, phosphate, alkaline phosphatase
Blood urea nitrogen, creatinine 
insulin-like growth factor-1
insulin-like growth factor binding protein-3 (<3 years only), 
immunoglobulin A (IgA), tissue transglutaminase
TSH, FT4
karyotype (female only)
31
Q

what specific tests can you use for endocrine disorders in terms of the IGF system

A

IGF-1
GH stimulation test
MRI scan

  • These look for GH insensitivity/resistance
  • GH deficiency
  • if we do these tests and find nothing then idiopathic short stature is defined as the condition
32
Q

what is growth hormone stimulated by and inhibited by

A

GNRH is stimulatory
Somatomstatin is inhibit r
-

33
Q

what causes the pulses of growth hormone

A

somatostatin

34
Q

when are growth hormone pulses secreted

A

every 3-4 hours

35
Q

what is the main regulatory of growth in childhood

A

growth hormone

36
Q

What is the function of growth hormone

A

• Main regulator of growth in childhood.
o Systemic effects in through the liver.
o Direct effect on growth plates.

37
Q

what can cause growth hormone deficiency

A

Can be isolated or part of panhypopituitarism.

Acquired causes include – Trauma, Irradiation, Tumours

Associated genes: GH1 , GHRHR , BTK .

38
Q

what is an example of Growth hormone insensitivity

A

Larons syndrome

39
Q

What are the key features of Larons syndrome

A 
Normal size at birth
Severe growth 
restriction in infancy
Distinctive facial features
Blue sclerae 
Hypoglycaemia (Insulin sensitivity
40
Q

How do you manage idiopathic short stature

A

• Administration of GH

• Oxandrolone - anabolic steroid used for a long time and extradites growth but doesn’t increase adult height
o Very little change in most cases.

41
Q

who does NICE recommend be given somatostatin as treatment

A

Have growth hormone deficiency.

Have Turner syndrome.

Have Prader-Willi syndrome.

Have chronic kidney disease.

Are born small for gestational age with subsequent growth failure at 4 years of age or later.

Have short stature homeobox-containing gene (SHOX) deficiency

42
Q

when does puberty happen in girls

A

In girls between 8-13 years

43
Q

when does puberty happen in boys

A

In boys between 9.5-14 years

44
Q

in girls what is the first marker of puberty

A
  • breast budding
45
Q

what is precocious puberty

A

before age 8/9.5.

46
Q

what is delayed puberty

A

after age of 13/14

47
Q

first sign of puberty in boys is

A

testes volume increasing

48
Q

how do you investigate delayed puberty

A

Family history of delayed puberty ! - usually autosomal dominant

History of chronic disease, cryptorchidism, anosmia, anorexia, radio- or chemotherapy

Growth rate, Tanner stage, testis volume

Tests: Biochemistry, Bone Age x-ray,

Basal serum LH, FSH, IGF-I, (prolactin) and testosterone (in boys)

49
Q

what can breast development be activated without

A

In girls Tanner stage B2 is usually the first physical marker of puberty, but may be present without central activation of the HPG-axis

50
Q

what does testicular volume increase indicate

A

Testicular volume of > 3 cc (≥ 2.5 cm in length) indicates central puberty.

  • Most healthy boys with a testicular volume >3 cc or greater will have a further increase in testicular volume when re-examined 6 months later.
51
Q

what happen if there is high FSH after 13 years in girls or 14 years in boys

A

means you have primary hypogonadism

  • then you should test karyotype for example for turner syndrome
  • serum inhibit B in boys should be tested
52
Q

what happens if you have low or normal serum LH and FSH for early tanner stages

A
  • have normal growth rate for bone age
  • then check GnRH deficiency or CDGP
  • Then you would test GnRH, hCG stimulation test, serum inhibinB, olfactory function test, genetic testing

slow growth rate for bone age

  • function hypogonadotropic hypogonadism
  • low BMI - GI disorder underfeeding
  • Normal BMI - hypothyreosis, hyper-PRL GHD
  • High BMI - iatrogenic (Corticoids)
  • then examine further for chronic disease and consider GH provocation tests

Human Development 2 (34 decks)

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