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Endocrine > Paediatric Endocrinology and Diabetes > Flashcards

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
Why do males end up taller than females on average? Usually by around 12.5 cm or 5"
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
What are growth disorders that are indications for referral?
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
What are the common causes of short stature?
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
What are pathological causes of short stature?
Undernutrition Chronic illness (JCA, IBD, Coeliac) JCA - juvenile chronic arthritis Iatrogenic (steroids) Psychological and social Hormonal (GHD, hypothyroidism) Syndromes (turner, Prader - willi)
29
What are signs of GH deficiency?
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
What are the features of turners syndrome?
Short stature Gonadal dysgenesis Cardiac defect (coarctation of aorta) Renal anomaly Hypertension Hearing problems
31
What are the features of prader willi syndrome?
Infantile hypotonia / feeding problems Hyperphagia / obesity in childhood Short stature Developmental delay Hypogonadism Deletion of 15q11-q13 syndrome
32
When is puberty defined as early or delayed? In boys and girls?
Boys: Early \< 9 years (rare) Delayed \>14 (common, especially CDGP) Girl: Early \<8 Delayed \>13 (rare)
33
What does CDGP stand for?
Constitutional Delay of Growth and Puberty (CDGP) Family history can exist in dads and brothers Bone age delay Need to exclude organic disease
34
What are other causes of delayed puberty (that are not CDGP)
* 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
What is septo-optic dysplasia?
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
What is cryptorchidism?
A condition in which one or both of the testes fail to descend from the abdomen into the scrotum.
37
What are the causes of early sexual development?
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
What are the features of central precocious puberty?
• Pubertal development – Breast development in girls – Testicular enlargement in boys * Growth spurt * Advanced bone age
39
What are the causes of central precicious puberty?
Girls: * Usually idiopathic * Pituitary imaging Boys: * Look for underlying cause (brain tumour) Treatment is gonadotropin-releasing hormone antagonist.
40
Summary:
Girls – usually early developers – watch rapid progression/growth acceleration • Boys – usually late developers • Beware abnormal patterns of pubertal development
41
What are features of congenital hypothyroidism?
Swollen eyelids Eyes widely separated Narrow palpebral fissure Broad nose Puffy face Swollen abdomen Umbilical hernia
42
What is the diagnosis of hypothyroidism?
High TSH Low T4 Thyroid function tests
43
What causes congenital hypothyroidism?
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
What is treatment of hypothyroidism?
Levothyroxine
45
What is the most common cause of acquired hypothyroidism?
Autoimmune thyroiditis (hashimoto's thyroiditis( Family hitory of thyroid / autoimmune disorders is common
46
What are childhood issues with hypothyroidism?
– Lack of height gain – Pubertal delay (or precocity) – Poor school performance (but work steadily)
47
Which children are vulnerable to obesity?
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
What are the definitions of obesity?
Overweight: (BMI over the 85th centile or SD\>1.04) Obesity: (BMI over 97.5th centile or SD \>2)
49
What are the relevant assessments for obesity?
Weight BMI Height Waist circumference Skin folds History and Examination Complications
50
What is the relevant history for obesity?
Diet Physical activity Family history Symptoms suggestive of: – Syndrome – Hypothalamic - pituitary pathology – Endocrinopathy – Diabetes
51
What is the effect of rapid weight gain during infancy?
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
Causes of obesity
Simple obesity Drugs Syndromes Endocrine disorders Hypothalamic damage
53
What are the relevant syndromes that result in short stature?
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
What are the relevant endorcine disorders associated with short stature?
 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
What are the treatments of obesity?
•Diet ]Exercise * Psychological input * Drugs???
56
What is the risk of late diagnosis of type 1 diabetes?
Diabetic ketoacidosis
57
What are the symptoms to look out for when diabetes is suspected?
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
What are symptoms to look out for if the child is younger than 5 years old?
Nappies are heavier than usual Blurred vision Candidiasis (oral or viral) Constipatoin Recurring skin infections Irritability, behaviour change
59
What are the symptoms associated with diabetic ketoacidosis?
Nausea and vomiting Abdominal pain Sweet smelling, 'ketotic' breath Drowsiness Rapid, deep 'sighing' respiration Coma
60
What is the test for ketoacidosis?
Finger prick capillary blood test

Endocrine (25 decks)

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