Paediatric Endocrinology and Diabetes Flashcards

1
Q

What are relevant measurements to measure growth?

A

Height (supine measurement necessary in patients who are up to 2 years of age or are unable to stand)

Sitting height (gains appreciation of trunk length vs leg length)

Head circumference (routine in children that are less than 2 years old)

Weight

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2
Q

What time of the day should you plot a growth chart?

A

Try and plot roughly at the same time of day for each patient

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3
Q

What are the different types of centile charts?

A

Vary for:

  • Different ethnic origin
  • Different health and nutrition
  • Different environmental and geographical setting
  • Condition specific charts exist for certain conditions (e.g downs syndrome and turners syndrome)
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4
Q

How is the midparental height obtained for a boy and a girl?

A

Average height between mother and father

THEN

Boy: add 7cm to the total

Girl: subtract 7cm from the total

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5
Q

What is the range for normal height in a boy and a girl?

A

Boy +/- 10 cm of MPH (mid-parental height)

Girl +/- 8.5 cm of MPH (mid-parental height)

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6
Q

What is the purpose of obtaining bone age?

A

To assess the amount of growth that has taken place and how much there is left to go

Indicates skeletal maturation in normal children

ASSESSMENT TOOL NOT DIAGNOSTIC

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7
Q

What are the limitations of bone age?

A

Evaluation is needed by a skilled practitioner

Radiographs must be of high quality

Pathological conditions can distort bones

Severe ostopenia can confuse interpretation

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8
Q

Define ostopenia

A

a medical condition in which the protein and mineral content of bone tissue is reduced, but less severely than in osteoporosis.

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9
Q

What are the potential causes of reduced bone age?

A

Constitutional delay in growth

GH deficiency

Hypothyroidism

Malnutrition / chronic illness

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10
Q

What are the causes of advanced bone age?

A

Tall stature

Premature adrenarche

Overweight

Early puberty

Congenital adrenal hyperplasia

Overgrowth syndromes

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11
Q

What do the terms adrenarch, thelarche, pubarche and menarche mean?

A

Thelarche is the onset of female breast development.

Pubarche is the appearance of sexual hair.

Adrenarche is the onset of androgen-dependent body changes such as growth of axillary and pubic hair, body odor, and acne.

Menarche is the onset of menstruation.

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12
Q

What are blood hormone levels in children compared against?

A

Investigations of pituitary - gonadal axis in delayed puberty should be evaluated according to bone age rather than chronological age (for example, we should not expect pubertal values of LH and FSH in a child with bone age less than 12 yrs)

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13
Q

Define Precocious puberty

A

Precocious puberty is when a child’s body begins changing into that of an adult (puberty) too soon. Puberty that begins before age 8 in girls and before age 9 in boys is considered precocious puberty.

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14
Q

What are the tanner steges of puberty?

A

B - 1 to 5 (breast development)

G - 1 to 5 (genital development)

PH - 1 to 5 (pubic hair)

AH - 1 to 3 (axillary hair)

T - 2ml to 20 ml (testicles) - measured by orchidometer

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15
Q

What may small testes indicate?

A

Primary or secondary hypogonadism

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16
Q

What may large testes (macrochidism) be a sign of?

A

Fragile X syndrome

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17
Q

Why are normal patterns of growth useful for us?

A

Normal growth is a reflection of overall health and nutritional status. Understanding the normal patterns of growth enables the early detection of pathologic deviations (eg, poor weight gain due to a metabolic disorder, short stature due to inflammatory bowel disease) and can prevent the unnecessary evaluation of children with acceptable normal variations in growth

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18
Q

What are the relevant areas that are needed to investigate abnormal growth?

A
  • Birth weight and gestation (birth weight has little effect on childhood height unless small for gestational age)
  • PMH - look for any history of disease that may cause a reduction in height (Crohn’s disease and chronic renal failure)
  • Family history/social history/schooling

(Socio - economic status - children from affluent areas, are, on average, taller than children from poor areas

Psycho - social deprivation - can cause profound gro wth retardation)

  • Systematic enquiry
  • Dysmorphic features
  • Systemic examination
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19
Q

What are the factors that affect growth?

A

Age and Skeletal Maturity (bone age)

Sex - boys are slightly taller than girl s before puberty

Race - e.g. Scandinavians are tall, Oriental races are short

Nutrition - particularly important prenatally and in infancy. Contributes to height differences between races

Birth weight - little effect on childhood height unless small for gestational age

Parental heights - the underlying genetic component, a particularly strong influence

Puberty - early developers are taller for age than late developers

Health (general health and chronic disease)- growth is adversely affected by chronic illness, e.g. Crohn’s disease, chronic renal failure

Specific growth disorders - e.g. growth hormone deficiency, hypothyroidism

Socio - economic status - children from affluent areas, are, on average, taller than children from poor areas

Psycho - social deprivation - can cause profound growth retardation

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20
Q

What are all the growth and development tools?

A

Height/ Length/ Weight

Growth Charts and plotting

MPH and Target centiles

Growth velocity

Bone age

Pubertal assessment

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21
Q

What are the three phases of growth?

What are the factors that stimulate this growth?

A
  1. Infantile phase (0-2) - Nutrition and insulin like growth factors, largely independant of growth hormone
  2. Childhood phase (2-12) - More dependant on growth hormone and thyroxine
  3. Pubertal phase (12 - final height) - dependant on the sex steroid that causes the release in growth hormone

Males - Testosterone

Females - Oestrogen

Acceleration is limited by the fusion of epiphysis (caused by oestrogen in both sexes)

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22
Q

What are the stages of growth in girls?

A

Grow fast at the start of puberty

Peak height velocity is at 12 years (B2-3)

Slows down in later stages of puberty when breast development is mature (B4-B5)

When menarche occurs (13-13.5 years old) girls are close to their final height

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23
Q

What are the stages of height growth in boys?

A

Grow slowly at start of puberty (G2) – still in childhood growth phase

Accelerate in mid - puberty (coincides with growth of penis, G3)

Peak height velocity at 14 yr (G4)

Further growth after pubertal development is complete (G5)

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24
Q

What are the most important pubertal stages?

A

Breast budding (Tanner Stage B2) in a girl

Testicular Enlargement (G2 T3-4ml) in a boy

The second stage in the tanner score always correlates to the start of puberty

These are the earliest objective signs of puberty

• and when present puberty will usually progress onwards

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25
Q

Why do males end up taller than females on average?

Usually by around 12.5 cm or 5”

A

Pubertal growth spurt starts 2 years later than in girls (14 years vs 12 years)

Pubertal growth spurt is more intense in males

Boys are slightly bigger than girls in childhood

26
Q

What are growth disorders that are indications for referral?

A

Extreme short or tall stature (off centiles)

  • Height below target height
  • Abnormal height velocity (crossing centiles)
  • History of chronic disease
  • Obvious dysmorphic syndrome
  • Early/late puberty
27
Q

What are the common causes of short stature?

A

Familial

Constitutional

SGA / IUGR

SGA (small for gestational age)

IUGR - intrauterine growth restriction (IUGR) is a fetal weight that is below the 10th percentile for gestational age as determined through an ultrasound. This can also be called small-for gestational age (SGA) or fetal growth restriction

28
Q

What are pathological causes of short stature?

A

Undernutrition

Chronic illness (JCA, IBD, Coeliac)

JCA - juvenile chronic arthritis

Iatrogenic (steroids)

Psychological and social

Hormonal (GHD, hypothyroidism)

Syndromes (turner, Prader - willi)

29
Q

What are signs of GH deficiency?

A

May show no features before school age

Neonatal: Hypoglycaemia, prolonged jaundice, micropenis

Other anterior pituitary deficiencies

Excess subcutaneous fat

Mid-face hypoplasia

Features of septo-optic dysplasia

Delayed skeletal maturation

30
Q

What are the features of turners syndrome?

A

Short stature

Gonadal dysgenesis

Cardiac defect (coarctation of aorta)

Renal anomaly

Hypertension

Hearing problems

31
Q

What are the features of prader willi syndrome?

A

Infantile hypotonia / feeding problems

Hyperphagia / obesity in childhood

Short stature

Developmental delay

Hypogonadism

Deletion of 15q11-q13 syndrome

32
Q

When is puberty defined as early or delayed? In boys and girls?

A

Boys:

Early < 9 years (rare)

Delayed >14 (common, especially CDGP)

Girl:

Early <8

Delayed >13 (rare)

33
Q

What does CDGP stand for?

A

Constitutional Delay of Growth and Puberty (CDGP)

Family history can exist in dads and brothers

Bone age delay

Need to exclude organic disease

34
Q

What are other causes of delayed puberty (that are not CDGP)

A
  • Gonadal dysgenesis (Turner 45X, Klinefelter 47XXY)
  • Chronic disease (Crohn’s, asthma)
  • Impaired HPG axis (septo - optic dysplasia, craniopharyngioma, Kallman’s syndrome)

The hypothalamic–pituitary–gonadal axis (HPG axis) refers to the hypothalamus, pituitary gland, and gonadal glands as if these individual endocrine glands were a single entity

• Peripheral (cryptorchidism, testicular irradiation)

35
Q

What is septo-optic dysplasia?

A

Septo-optic dysplasia (SOD), (de Morsier syndrome) is a 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).

36
Q

What is cryptorchidism?

A

A condition in which one or both of the testes fail to descend from the abdomen into the scrotum.

37
Q

What are the causes of early sexual development?

A

Infantile thelarche - Thelarche means “the beginning of breast development.”

Thelarche variant

True central precocious puberty - precocious puberty is puberty occurring at an unusually early age

Most cases, the process is normal in every aspect except the unusually early age, and simply represents a variation of normal development. In a minority of children, the early development is triggered by a disease such as a tumor or injury of the brain. Even when there is no disease, unusually early puberty can have adverse effects on social behavior and psychological development, can reduce adult height potential, and may shift some lifelong health risks

Precocious pseudopuberty:

Gonadotrophin independent (low/prepubertal levels of LH and FSH)

  • Abnormal sex steroid hormone secretion
  • Virilasing or feminasing

the development of male physical characteristics (such as muscle bulk, body hair, and deep voice) in a female or precociously in a boy, typically as a result of excess androgen production.

• Clinical picture: secondary sexual characteristics

38
Q

What are the features of central precocious puberty?

A

• Pubertal development

– Breast development in girls

– Testicular enlargement in boys

  • Growth spurt
  • Advanced bone age
39
Q

What are the causes of central precicious puberty?

A

Girls:

  • Usually idiopathic
  • Pituitary imaging

Boys:

  • Look for underlying cause (brain tumour)

Treatment is gonadotropin-releasing hormone antagonist.

40
Q

Summary:

A

Girls

– usually early developers

– watch rapid progression/growth acceleration

• Boys

– usually late developers

• Beware abnormal patterns of pubertal development

41
Q

What are features of congenital hypothyroidism?

A

Swollen eyelids

Eyes widely separated

Narrow palpebral fissure

Broad nose

Puffy face

Swollen abdomen

Umbilical hernia

42
Q

What is the diagnosis of hypothyroidism?

A

High TSH

Low T4

Thyroid function tests

43
Q

What causes congenital hypothyroidism?

A

Thyroid dysgenesis (abnormal development of thyroid)

Agenesis

Hypoplasia

Ectopy

Dyshormonogenesis - Defects in hormone synthesis

Definition of athyreosis: an abnormal condition caused by absence or functional deficiency of the thyroid gland.

Central hypothyroidism (Insensitivity or resistance to thyroid hormone)

44
Q

What is treatment of hypothyroidism?

A

Levothyroxine

45
Q

What is the most common cause of acquired hypothyroidism?

A

Autoimmune thyroiditis

(hashimoto’s thyroiditis(

Family hitory of thyroid / autoimmune disorders is common

46
Q

What are childhood issues with hypothyroidism?

A

– Lack of height gain

– Pubertal delay (or precocity)

– Poor school performance (but work steadily)

47
Q

Which children are vulnerable to obesity?

A

At Reception and Year 6, children in the poorest decile are almost twice as likely to be obese compared those in the most affluent decile

48
Q

What are the definitions of obesity?

A

Overweight: (BMI over the 85th centile or SD>1.04)

Obesity: (BMI over 97.5th centile or SD >2)

49
Q

What are the relevant assessments for obesity?

A

Weight

BMI

Height

Waist circumference

Skin folds

History and Examination

Complications

50
Q

What is the relevant history for obesity?

A

Diet

Physical activity

Family history

Symptoms suggestive of:

– Syndrome

– Hypothalamic - pituitary pathology

– Endocrinopathy

– Diabetes

51
Q

What is the effect of rapid weight gain during infancy?

A

Rapid weight gain during infancy is associated with accelerated growth and early pubertal development.

Rapid weight gain in infancy is also associated with the development of insulin resistance and an exaggerated adrenarche.

Obese and short = abnormal

52
Q

Causes of obesity

A

Simple obesity

Drugs

Syndromes

Endocrine disorders

Hypothalamic damage

53
Q

What are the relevant syndromes that result in short stature?

A

Prader willi syndrome

Laurence-moon-biedl syndrome - retinitis pigmentosis, spastic paraplegia, hypopituitarism

Pseudohypoparathyroidism - resistance to hypoparathyroid hormone (features low calcium, high phosphate, PTH is appropriately hight due to low calcium)

Down’s syndrome

54
Q

What are the relevant endorcine disorders associated with short stature?

A

 Hypothyroidism

 Growth hormone deficiency

 Glucocorticoid excess

 Hypothalamic lesion (tumour/trauma/infection)

 Androgen excess

 Insulinoma

 Insulin resistance syndromes

 Leptin deficiency

Leptin is the hormone responsible for decreasing appetite

Grehlin is the hormone responsible for increasing appetite

55
Q

What are the treatments of obesity?

A

•Diet

]Exercise

  • Psychological input
  • Drugs???
56
Q

What is the risk of late diagnosis of type 1 diabetes?

A

Diabetic ketoacidosis

57
Q

What are the symptoms to look out for when diabetes is suspected?

A

4 T’s

Thirsty

Tired

Thinner

Toilet use increase

A return to bed wetting or day-wetting in a previously dry child is a red flag symptoms

58
Q

What are symptoms to look out for if the child is younger than 5 years old?

A

Nappies are heavier than usual

Blurred vision

Candidiasis (oral or viral)
Constipatoin

Recurring skin infections

Irritability, behaviour change

59
Q

What are the symptoms associated with diabetic ketoacidosis?

A

Nausea and vomiting

Abdominal pain

Sweet smelling, ‘ketotic’ breath

Drowsiness

Rapid, deep ‘sighing’ respiration

Coma

60
Q

What is the test for ketoacidosis?

A

Finger prick capillary blood test