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HD 2 > Endocrine disorders > Flashcards

Endocrine disorders Flashcards

1
Q

In what 3 circumstances do individual children need further assessment of growth

A

1) Weight/ height/ BMI below 0.4th centile, unless already investigated
2) Height centile > 3 centile spaces below mid-parental centile
3) A drop in height centile position of > 2 centiles

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2
Q

5 requirments for normal human growth

A
  • Absence of chronic disease
  • Emotional stability
  • Adequate nutrition
  • Normal hormone/ growth factor actions
  • Healthy growth plates
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3
Q

What affects growth during infancy

A

Nutrition

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4
Q

What affects growth during childhood

A

Growth hormone

T4

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5
Q

What affects growth during puberty

A

Growth hormone
Sex steroids
T4

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6
Q

What could be the cause of disproportionate short stature

A

Achondroplasia
Hydrochondroplasia
Leri-Weill dyschonrosteosis

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7
Q

What should you calculate standard deviation score for

A

Subischial length

Sitting height

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8
Q

SDS=

A

(measurment-mean)/ SD

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9
Q

Features of LWD

A 
Skeletal dysplasia
Mid-part limb shorterning
Reduced subischial length
Forearm deformity
Bowing of radius
Dorsal dislocation ulna
Premature epiphyseal fracture
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10
Q

What characterises Madelung deformity

A

Congenital dislocation of distal ulnar

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11
Q

In what diseases is Mudelung deformity seen

A

50-74% of LWD

3-7% Turners

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12
Q

When is Madelung deformity clinically apparent

A

Puberty

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13
Q

What does SHOX gene stand for

A

Short stature homeobox gene

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14
Q

What is the most important monogenic cause of short stature in human

A

SHOX Haploinsufficiency

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15
Q

What tests are done when short stature is proportionate?

A

Psychosocial assessment
Syndromic features karyotype
Tests for systemic disorders
Tests for endocrine disorders

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16
Q

What short stature syndrome can be picked up on via karyotype

A

Turner Syndrome

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17
Q

When is Turners syndrome diagnosed and in what propotion>

A

15% at birth
21% during childhood
26% in teenagerhood
38% in adulthood

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18
Q

Describe the clinical phenotype in Turner Syndrome

A 
Short stature
Webbed neck
Shield test
Widely spaced nipple 
Knock knees
Shortening of 4/5 metacarpal
Gonadal dysgenesis
Cubitus valgus
19
Q

What tests should be done for systemic disorders causing short stature

A 
Complete blood count
ESR
Blood urea
Insulin like growth factor 1
TSH, FT4
Karyotype (F only)
20
Q

What systemic disorders are tested for

A

Chronic renal insufficiency
Gastrointestinal disease
Nutritional deficiency

21
Q

What can be tested for by IGF-1 GH stimulation test

A

GH insensitivity/ resistance

GI deficiency

22
Q

When is the pituitary cell stimulated to release GH

A

Growth hormone releasing hormone

23
Q

What inhibits release of GH

A

Somatostatin

24
Q

How often are pulses of GH released

A

Every 3-4 hours

25
Q

What are the main targets of GH

A

Growth plate and liver

26
Q

What do target tissues release when under influence of GH

A

IGF 1

27
Q

Name 2 available height promoting treatment options

A

growth hormone

oxandrolone

28
Q

When does puberty occur in girls

First physical markers of puberty in girls

A

8-13 years

Breast development and pubic hair development

29
Q

When does puberty occur in boys

A

9.5-14 YEARS

Genital development and pubic hair

30
Q

What is suggested if height centile is affected

A

Failure to grow

31
Q

What is suggested if weight centile is affected

A

Failure of thrive

32
Q

Describe the shape of the ICP model

A

Rapid growth during infancy
Slower growth during childhood
Acceleration then cessation of growth during puberty

33
Q

How do you work out if growth is proportionate or disproportionate

A

Measuring SD of subischial length and subtracting sitting height SDS

34
Q

If growth is found to be disproportionate, what should be done

A

Skeletal survey- xray of spine, skull, pelvis, limbs

35
Q

How is LWD inhertied

A

Autosomal dominant

36
Q

Is GH deficiency or insensitivity more common

A

Deficiency

37
Q

Why is single blood test for GH useless

A

Pulsatile release means that it peaks and troughs throughout day

38
Q

What is oxandrolone

A

Anabolic steroid

39
Q

What is suggested if gonadotrophin level is elevated

A

Primary hypogonadism

Something in ovary or testes not working

40
Q

What is the next step once it is determined that primary hypogonadism is occured

A

Karyotype

41
Q

What are the indications for functional hypogonadotropic hypogonadmism

A

Low or normal FSH and LH

Slow growth rate for bone age

42
Q

What is next step once functional hypogonadotropic hypogonadism is identified

A

Take BMI

43
Q

What indicates GnRH deficiency or constitutional delay of puberty

A

Exclusion of other causes

HD 2 (26 decks)

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