Paediatric Endocrinology and Diabetes Flashcards
What are relevant measurements to measure growth?
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
What time of the day should you plot a growth chart?
Try and plot roughly at the same time of day for each patient
What are the different types of centile charts?
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)
How is the midparental height obtained for a boy and a girl?
Average height between mother and father
THEN
Boy: add 7cm to the total
Girl: subtract 7cm from the total
What is the range for normal height in a boy and a girl?
Boy +/- 10 cm of MPH (mid-parental height)
Girl +/- 8.5 cm of MPH (mid-parental height)
What is the purpose of obtaining bone age?
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
What are the limitations of bone age?
Evaluation is needed by a skilled practitioner
Radiographs must be of high quality
Pathological conditions can distort bones
Severe ostopenia can confuse interpretation
Define ostopenia
a medical condition in which the protein and mineral content of bone tissue is reduced, but less severely than in osteoporosis.
What are the potential causes of reduced bone age?
Constitutional delay in growth
GH deficiency
Hypothyroidism
Malnutrition / chronic illness
What are the causes of advanced bone age?
Tall stature
Premature adrenarche
Overweight
Early puberty
Congenital adrenal hyperplasia
Overgrowth syndromes
What do the terms adrenarch, thelarche, pubarche and menarche mean?
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.
What are blood hormone levels in children compared against?
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)
Define Precocious puberty
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.
What are the tanner steges of puberty?
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
What may small testes indicate?
Primary or secondary hypogonadism
What may large testes (macrochidism) be a sign of?
Fragile X syndrome
Why are normal patterns of growth useful for us?
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
What are the relevant areas that are needed to investigate abnormal growth?
- 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
What are the factors that affect growth?
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
What are all the growth and development tools?
Height/ Length/ Weight
Growth Charts and plotting
MPH and Target centiles
Growth velocity
Bone age
Pubertal assessment
What are the three phases of growth?
What are the factors that stimulate this growth?
- Infantile phase (0-2) - Nutrition and insulin like growth factors, largely independant of growth hormone
- Childhood phase (2-12) - More dependant on growth hormone and thyroxine
- 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)
What are the stages of growth in girls?
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
What are the stages of height growth in boys?
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)
What are the most important pubertal stages?
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
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
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
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
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)
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
What are the features of turners syndrome?
Short stature
Gonadal dysgenesis
Cardiac defect (coarctation of aorta)
Renal anomaly
Hypertension
Hearing problems
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
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)
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
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)
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).
What is cryptorchidism?
A condition in which one or both of the testes fail to descend from the abdomen into the scrotum.
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
What are the features of central precocious puberty?
• Pubertal development
– Breast development in girls
– Testicular enlargement in boys
- Growth spurt
- Advanced bone age
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.
Summary:
Girls
– usually early developers
– watch rapid progression/growth acceleration
• Boys
– usually late developers
• Beware abnormal patterns of pubertal development
What are features of congenital hypothyroidism?
Swollen eyelids
Eyes widely separated
Narrow palpebral fissure
Broad nose
Puffy face
Swollen abdomen
Umbilical hernia
What is the diagnosis of hypothyroidism?
High TSH
Low T4
Thyroid function tests
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)
What is treatment of hypothyroidism?
Levothyroxine
What is the most common cause of acquired hypothyroidism?
Autoimmune thyroiditis
(hashimoto’s thyroiditis(
Family hitory of thyroid / autoimmune disorders is common
What are childhood issues with hypothyroidism?
– Lack of height gain
– Pubertal delay (or precocity)
– Poor school performance (but work steadily)
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
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)
What are the relevant assessments for obesity?
Weight
BMI
Height
Waist circumference
Skin folds
History and Examination
Complications
What is the relevant history for obesity?
Diet
Physical activity
Family history
Symptoms suggestive of:
– Syndrome
– Hypothalamic - pituitary pathology
– Endocrinopathy
– Diabetes
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
Causes of obesity
Simple obesity
Drugs
Syndromes
Endocrine disorders
Hypothalamic damage
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
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
What are the treatments of obesity?
•Diet
]Exercise
- Psychological input
- Drugs???
What is the risk of late diagnosis of type 1 diabetes?
Diabetic ketoacidosis
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
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
What are the symptoms associated with diabetic ketoacidosis?
Nausea and vomiting
Abdominal pain
Sweet smelling, ‘ketotic’ breath
Drowsiness
Rapid, deep ‘sighing’ respiration
Coma
What is the test for ketoacidosis?
Finger prick capillary blood test
