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Endocrine system > Growth and development > Flashcards

Growth and development Flashcards

1
Q

What measurements are taken when assessing growth in infants?

A
  • Height
  • Length
  • Sitting height
  • Head circumference
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2
Q

How is head circumference measured, and for what group of patients is this important?

A

o Routine in children <2 years

o Tape around forehead and occipital prominence (max circumference)

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3
Q

Describe the Tanner method of staging puberty

A 
B       1 to 5 (breast development)
G       1 to 5 (genital development)
PH    1 to 5 (pubic hair development)
AH    1 to 3 (axillary hair development)
T       2ml to 20ml (testicular volume)
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4
Q

How is testicular volume measured for assessing puberty using Tanner scale?

A

Prader orchidometer

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5
Q

What is the typical prepubertal size of the testicles?

A

1-3ml

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6
Q

What is the typical pubertal size of the testicles?

A

4ml +

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7
Q

What is the typical adult size of the testicles?

A

12-25ml

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8
Q

What is MPH in terms of growth and development?

A

Mid Parental Height

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9
Q

What factors influence height?

A
  • Age
  • Sex
  • Race
  • Nutrition
  • Parental heights
  • Puberty
  • Skeletal maturity (bone age)
  • General health
  • Chronic diseases
  • Specific growth disorders
  • Socio-economic status
  • Emotional well-being
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10
Q

What are the most important stages in puberty, and why?

A 
Breast budding (Tanner stage B2) in a girl
Testicular enlargement (Tanner stage G2 – T 3-4ml) in a boy

These are the first objective signs of puberty in both sexes and when present, puberty will usually progress onwards

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11
Q

What are some indications of growth disorders for referral?

A

Extreme short or tall stature (off centiles)
Height below target height (outwith parental target range)
Abnormal height velocity (crossing centiles)
History of chronic disease
Obvious dysmorphic syndrome
Early/late puberty

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12
Q

What are some common causes of short stature?

A
  • Familial
  • Constitutional delay of growth and development
  • Small for gestational age (SGA)/IUGR
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13
Q

What does small for gestational age (SGA) mean?

A

Small for gestational age (SGA) newborns are those who are smaller in size than normal for the gestational age, most commonly defined as a weight below the 10th percentile for the gestational age

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14
Q

What does Intrauterine Growth Restriction mean?

A

Intrauterine growth restriction (IUGR) describes a fetus that has not reached its growth potential because of genetic or environmental factors.

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15
Q

What does constitutional delay of growth and development mean?

A

Constitutional delay of growth and puberty (CDGP) is a term describing a temporary delay in the skeletal growth and thus height of a child with no physical abnormalities causing the delay. Short stature may be the result of a growth pattern inherited from a parent (familial) or occur for no apparent reason (idiopathic). Typically at some point during childhood, growth slows down, eventually resuming at a normal rate. CDGP is the most common cause of short stature and delayed puberty

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16
Q

What is the most common cause of short stature in children?

A

CDGP is the most common cause of short stature and delayed puberty

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17
Q

What are some pathological causes of short stature?

A

Undernutrition
Chronic illness (JCA, IBD, Coeliac)
Iatrogenic (steroids)
Psychological and social changes e.g. going into care, periods of stress
Hormonal (GH deficiency, hypothyroidism)
Syndromes (Turner, Prader-Willi, Noonan’s)

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18
Q

What drugs can cause short stature?

A

Steroids

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19
Q

What hormonal causes can lead to short stature?

A

GH deficiency

Hypothyroidism

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20
Q

What syndromes are associated with short stature?

A

Turner syndrome - 45XO
Prader-Wiili
Noonan’s syndrome - “male Turners”, RASopathy
Achondroplasia - bone growth disorder

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21
Q

What causes Turner syndrome, and list some symptoms?

A

45XO - missing/incomplete 2nd X chromosome, girls affected

Short webbed neck
Low set ears
Low hairline
SHORT STATURE
Swollen hands and feet at birth
Lack of menstrual periods and breast development without hormones
Infertile without treatment
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22
Q

What diseases are those with Turner syndrome more at risk of?

A

Heart defects
Diabetes
Low thyroid hormone

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23
Q

Describe Prader Willi syndrome, what causes it and its signs and symptoms

A

Genetic disorder - 75% have missing chr15, 25% have two chronic 15 both from mother.

Weak muscles
Poor feeding
Slow development
Always hungry - obesity common as well as type II DM
Mild to moderate mental impairment
Behavioural problems
Narrow forehead
Small hands, feet, and SHORT
Pale skin
Infertile
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24
Q

What genetic syndrome is often linked to type 2 diabetes?

A

Prader Willi

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25
Q

Describe Noonan’s syndrome, what causes it and its signs and symptoms

A

Autosomal dominant disorder affecting both sexes

Congenital heart defects
Short stature
Learning problems
Pectus excavatum
Impaired blood clotting
Webbed neck
Flat nose bridge
26
Q

What syndrome is a RASopathy?

A

Noonan’s syndrome

27
Q

Describe achondroplasia

A

Bone growth disorder
Normal trunk but short limbs
Most common cause of disproportionate dwarfism

28
Q

Define early and late puberty in both boys and girls

A

Boys
o Early <9 years (rare)
o Delayed >14 (common, especially CDGP)

Girls
o Early <8 years
o Delayed >13 years (rare)

29
Q

What sex is most commonly affected by constitutional delay of growth and puberty?

A

Males

30
Q

List some causes of delayed puberty

A

Gonadal dysgenesis - Turners (45XO), Klinefelters (47XXY)
Chronic diseases - asthma, crohns disease
Impaired hypothalamic-pituitary-gonadal axis
Cryptochiridism
Testicular irradiation

31
Q

What are 3 diseases that cause impaired hypothalamic-pituitary-gonadal axis which can lead to delayed puberty?

A

Septo-optic dysplasia - rare congenital malformation syndrome featuring underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum (a midline part of the brain). Two of these features need to be present for a clinical diagnosis, only 30% of patients have all three.

Craniopharyngioma - type of brain tumor derived from pituitary gland embryonic tissue, that occurs most commonly in children but also in adults in their 50s and 60s

Kallman’s syndrome - a genetic disorder that prevents a person from starting or fully completing puberty. If left untreated people with Kallmann syndrome will have poorly defined secondary sexual characteristics, show signs of hypogonadism, almost invariably be infertile and be at increased risk of developing osteoporosis.

32
Q

What is Septo-optic dysplasia?

A

Septo-optic dysplasia - rare congenital malformation syndrome featuring underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum (a midline part of the brain). Two of these features need to be present for a clinical diagnosis, only 30% of patients have all three.

33
Q

What is craniopharyngioma?

A

Craniopharyngioma - type of brain tumor derived from pituitary gland embryonic tissue, that occurs most commonly in children but also in adults in their 50s and 60s

34
Q

What is Kallman’s syndrome?

A

Kallman’s syndrome - a genetic disorder that prevents a person from starting or fully completing puberty. If left untreated people with Kallmann syndrome will have poorly defined secondary sexual characteristics, show signs of hypogonadism, almost invariably be infertile and be at increased risk of developing osteoporosis.

35
Q

List 3 causes of early breast development

A

Infantile thelarche - breast development >3yo
Thelarche variant/premature thelarche - between 4 and 8
True central precocious puberty

36
Q

What causes true central precocious puberty?

A

Causes of central precocious puberty can include:

  • damage to the inhibitory system of the brain (due to infection, trauma, or irradiation)
  • hypothalamic hamartoma produces pulsatile gonadotropin-releasing hormone (GnRH)
  • Langerhans cell histiocytosis
  • McCune–Albright syndrome
37
Q

What characterises true central precocious puberty, what causes them usually in each sex, and how is it treated?

A

Early pubertal development (breasts, genitals)
Growth spurt
Advanced bone age

Girls - usually idiopathic, pituitary imaging
Boys - look for underlying cause e.g. tumours

Gonadotropin releasing hormone (GnRH) agonist to decrease LH and FSH

38
Q

What risk does long term gonadotrophin releasing hormone agonists used for central precocious puberty have?

A

Osteoporosis

39
Q

How can you differentiate between true precocious puberty or precocious pseudopuberty?

A

Precocious pseudopuberty is gonadotropin independent (low/prepubertal levels of LH and FSH)

40
Q

How do you manage babies with ambiguous genitalia?

A

Do not assume sex
MDT approach - paediatric endocrinologist, surgeon, neonatologist, geneticist, psychologist
Examination - gonads?
Karyotype
** EXCLUDE Congenital Adrenal Hyperplasia **

41
Q

What must be excluded when babies are born with ambiguous genitalia?

A

Congenital Adrenal Hyperplasia - are any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of mineralocorticoids, glucocorticoids or sex steroids from cholesterol by the adrenal glands (steroidogenesis).

Can die of adrenal crisis within 2 weeks of birth

42
Q

Why should congenital hypothyroidism be screened for in newborns?

A

Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency present at birth. If untreated for several months after birth, severe congenital hypothyroidism can lead to growth failure and permanent intellectual disability.

43
Q

When is treatment for congenital hypothyroidism usually started?

A

2 weeks from birth

44
Q

What is the most common cause of acquired hypothyroidism?

A

autoimmune (Hashimoto’s) thyroiditis

45
Q

What are some childhood issues associated with acquired hypothyroidism?

A

Lack of height gain
Pubertal delay (or precocity)
Poor school performance (but work steadily)

46
Q

What % of kids between 2 and 15 are overweight or obese?

A

1/3

47
Q

What is the annual cost of treating obesity linked conditions by the NHS?

A

The direct cost of obesity to the NHS is estimated to be £4.2bn a year

48
Q

How do we define overweight and obese?

A

Definitions:
o Overweight: BMI >85th centile or SD > 1.04
o Obesity: BMI >97.5th centile or SD >2

49
Q

How do we assess weight?

A
  • BMI (kg/m2)
  • Height
  • Waist circumference
  • Skin folds
  • History and examination
  • Complications
50
Q

What should you be suspicious of if classic simple obesity has been ruled out?

A

o Syndromes
o Hypothalamic-pituitary pathology
o Endocrinopathy
o Diabetes

51
Q

List some complications of obesity

A
  • Metabolic syndrome
  • Fatty liver disease (nonalcoholic steatohepatitis)
  • Gallstones
  • Reproductive dysfunction (e.g. PCOS)
  • Nutritional deficiencies
  • Thromboembolic disease
  • Pancreatitis
  • Central hypoventilation
  • Obstructive sleep apnoea
  • Gastroesophageal reflux disease
  • Orthopaedic problems (slipped capital femoral epiphysis, tibia vara)
  • Stress incontinence
  • Injuries
  • Psychological
  • Left ventricular hypertrophy
  • Atherosclerotic CV disease
  • Right sided heart failure
52
Q

What are some causes of obesity?

A

Simple obesity
o Higher food intake than energy expenditure

Drugs 
o	Insulin
o	Steroids
o	Antithyroid drugs
o	Sodium valproate (epilepsy, bipolar, migraines)
Syndromes
o	Prader willi
o	Laurence-Moon-Biedl
o	Psuedohypoparathyroidism type 1
o	Down’s syndrome
Endocrine disorders
o	Hypothyroidism
o	GH deficiency
o	Glucocorticoid excess
o	Hypothalamic lesion (tumour, trauma, infection)
o	Androgen excess
o	Insulinoma
o	Insulin resistance syndromes
o	Leptin deficiency

Hypothalamic damage

53
Q

What drugs can cause obesity?

A

Insulin
Steroids
Antithyroid drugs
Sodium valproate (epilepsy, bipolar, migraines)

54
Q

What syndromes are linked to obesity?

A

o Prader willi
o Laurence-Moon-Biedl
o Psuedohypoparathyroidism type 1
o Down’s syndrome

55
Q

What endocrine disorders are linked to obesity?

A 
o	Hypothyroidism
o	GH deficiency
o	Glucocorticoid excess
o	Hypothalamic lesion (tumour, trauma, infection)
o	Androgen excess
o	Insulinoma
o	Insulin resistance syndromes
o	Leptin deficiency
56
Q

What are the basic problems seen in each subclass of non-simple obesity causes?

A
  • Endocrine causes = growth failure
  • Syndromes = learning difficulties
  • Hypothalamic causes = loss of appetite control
57
Q

How do we look out for early diagnosis of diabetes in children?

A

THINK TEST TELEPHONE

THINK – symptoms, 4 T’s
o	Thirsty
o	Thinner
o	Tired
o	Using the Toilet more, return to bedwetting is a red flag, don’t be thrown off by “short” time periods e.g. a week! Can be confused with UTIs

TEST – immediately
o Finger prick capillary glucose test
o If result >11mmol/L = diabetes, <11 another cause

TELEPHONE – urgently
o Contact you local specialist team for same day review

In children under 5, also think about other symptoms:
o	Heavier than usual nappies
o	Blurred vision
o	Candidiasis (oral, vulval)
o	Constipation
o	Recurring skin infections
o	Irritability, behaviour changes
58
Q

What are the 4 Ts for THINK in THINK TEST TELEPHONE?

A

Thirsty
Thinner
Tired
Toilet

59
Q

What % of children are diagnosed with DM following diabetic ketoacidosis?

A

1 in 4

60
Q

What are some symptoms of diabetic ketoacidosis?

A 
Nausea and vomiting – don’t confuse with gastroenteritis 
Abdominal pain
Sweet smelling “ketotic” breath
Drowsiness
Rapid deep “sighing” respiration
Coma
61
Q

What test should be used if a child comes in and you suspect diabetes/diabetic ketoacidosis?

A

Finger prick capillary blood glucose test

Endocrine system (27 decks)

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