Paeds: Endocrinology (1) Flashcards

1
Q

What’s auxology?

A

Auxology → study of human growth using repeated measurements in the same individual over successive time periods

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2
Q

Define short and tall stature

A

Short stature → height less than 2SD below mean for age and sex

Tall stature → height more than 2SD above mean for age and sex

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3
Q

What factors growth is dependant on across a child’s lifespan?

  • foetal
  • infantile
A

Foetal: genotype, maternal factors, in utero environment and foetal and maternal hormones (IGF2,IGF1,Placental GH, Thyroid hormone etc.)

Infantile: mainly first 2 years, rapid but decelerating. Mainly nutrition dependent

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4
Q

What factors growth is dependant on across a child’s lifespan?

  • childhood
  • puberty
A

Childhood: 3 years to puberty. Mainly Growth Hormone (GH) and T4 driven

Puberty : Variable onset, different pattern in girls and boys , hypothalamic-pituitary-gonadal axis (HPG) axis activation and GH secretion

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5
Q

Factors affecting growth

A
  • Birth weight
  • Nurture
  • Family heights
  • Thyroid hormone
  • Growth hormone
  • Pubertal hormones
  • Various growth factors
  • Nutrition
  • Illnesses and medication
  • Onset of puberty
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6
Q

Types of growth

A

There are three types of growth;

  • Infancy (birth to 2-years-old)
  • Childhood (3 to 11-years-old)
  • Puberty (12 to 18-years-old)
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7
Q

Infantile growth

  • how much?/rate
  • factors influencing growth
A

Infantile growth (birth - 2 years)

25 cm/year

Principle influences on growth:-

  • birth size
  • psychosocial stimulation
  • nutrition

*Hormones are relatively unimportant for growth at this age

*Any chronic disease can impact on growth

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8
Q

Childhood growth

  • how much/rate
  • factors influencing it
A

Childhood growth

(3 - 11 years old)

4-8 cm / year

  • Growth hormone essential for normal growth
  • Psychosocial environment remains very important
  • Effect of childhood obesity on growth is observed
  • Chronic disease remains important cause of growth failure
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9
Q

Pubertal growth phase

  • when
  • what happens
A

Pubertal growth phase

(12-18 years old)

  • Production of sex hormones
  • Increased production of growth hormone
  • Rapid growth
  • Chronic diseases impact on both growth and pubertal development
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10
Q

What happens first-last in terms of secondary sexual characteristic development in boys?

A

testicular growth → penis, pubic and axillary hair → acceleration in height velocity → voice deepens, facial hair

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11
Q

What happens first-last in terms of secondary sexual characteristic development in girls?

A

breast growth → acceleration in height velocity → pubic and axillary hair growth → menarche

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12
Q

aetiology of ‘short stature’

A
  • familial
  • Cconstitutional
  • Small for gestational age with poor catch up growth
  • syndromes
  • skeletal dysplasia
  • chronic disease
  • endocrine causes (GH, thyroid, cortisol)
  • psychological
  • idiopathic
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13
Q

Hx in short stature

A
  • Growth pattern
  • General health
  • Pregnancy and birth
  • Medical history
  • Family history
  • Social and educational
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14
Q

Elements of clinical examination in short stature

A
  • Facial features
  • Disproportion, asymmetry
  • Eyes
  • Skin and limbs
  • Systemic examination
  • Pubertal assessment
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15
Q

Investigations in short stature

A
  • Renal, bone, liver
  • FBC, ESR
  • TTG (tissue transglutaminase)
  • Karyotype
  • TFT, IGF1, Prolactin, cortisol
  • Bone age
  • Dynamic tests
  • Skeletal survey
  • MRI
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16
Q

Growth Hormone

  • what’s that
  • what is it secreted by
  • function
  • secretion patterns
  • hormones influencing secretion of GH
A
  • Protein hormone synthesised and secreted by anterior pituitary (somatotrophs)
  • Major role in growth and acts via IGF1
  • Secreted in pulses during deep sleep
  • Secretion controlled by Growth Hormone Releasing Hormone (GHRH), Somatostatin, Ghrelin
17
Q

What conditions growth hormone therapy is recommended for?

A
  • GH deficiency
  • Turner syndrome
  • Prader-Willi syndrome
  • Chronic renal insufficiency
  • Small for gestational age babies with poor catch up growth
  • SHOX deletion
18
Q

Growth Hormone therapy

  • administration route
  • when to discontinue treatment
A
  • given by subcutaneous injection (SC)
  • treatment should be discontinued if there is a poor response in the first year of therapy
19
Q

SEs of growth hormone therapy

A
  • headache
  • benign intracranial hypertension
  • fluid retention
20
Q

Features of Turner’s syndrome

A
  • short stature
  • shield chest, widely spaced nipples
  • webbed neck
  • bicuspid aortic valve (15%), coarctation of the aorta (5-10%)
  • primary amenorrhoea
  • cystic hygroma (often diagnosed prenatally)
  • high-arched palate
  • short fourth metacarpal
  • multiple pigmented naevi
  • lymphoedema in neonates (especially feet)
  • gonadotrophin levels will be elevated
  • hypothyroidism is much more common in Turner’s
  • horseshoe kidney: the most common renal abnormality in Turner’s syndrome
21
Q

Genetic pathology in Turner’s syndrome

A
  • caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes
  • denoted as 45,XO or 45,X
22
Q

Definition of precocious puberty

A
  • ‘development of secondary sexual characteristics before 8 years in females and 9 years in males’

*more common in females

23
Q

What’s thelarche?

A

Thelarche → the first stage of breast development

24
Q

What’s adrenarche?

A

Adrenarche → the first stage of pubic hair development

25
Q

Classification of precocious puberty (2) due to causes

A
  1. Gonadotrophin dependent (‘central’, ‘true’)
  • due to premature activation of the hypothalamic-pituitary-gonadal axis
  • FSH & LH raised
  1. Gonadotrophin independent (‘pseudo’, ‘false’)
  • due to excess sex hormones
  • FSH & LH low
26
Q

Characteristics of gonadotropin dependent precocious puberty?

A

Gonadotrophin dependent (‘central’, ‘true’)

  • due to premature activation of the hypothalamic-pituitary-gonadal axis
  • FSH & LH raised
27
Q

Characteristics of gonadotropin independent precocious puberty

A

Gonadotrophin independent (‘pseudo’, ‘false’)

  • due to excess sex hormones
  • FSH & LH low
28
Q

Potential causes of enlargement of testes

  • bilateral
  • unilateral
  • small testes
A
  • bilateral enlargement = gonadotrophin release from intracranial lesion
  • unilateral enlargement = gonadal tumour
  • small testes = adrenal cause (tumour or adrenal hyperplasia)
29
Q

The usual cause of precocious puberty in:

  • male
  • female
A

Male → organic

Female → idiopathic, familial

30
Q

Causes of gonadotropin dependent precocious puberty in males

A

Causes of gonadotrophin dependent precocious puberty in males

  • CNS lesions: craniopharyngioma, hydrocephalus, neurofibroma, tuberous sclerosis
  • hCG secretion hepatoblastoma
  • primary hypothyroidism (increased TSH stimulates FSH receptors)