Growth and development + paediatric endocrine problems Flashcards by Heo Mun Ho

Measurements to assess growth

Height

Length (i.e. measuring them lying down) - from 0-2yrs

Sitting height - measuring this then subtracting from total height); done in people with unusual body proportions between top and bottom half

Head circumference

Weight

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How is the potential height of a child calculated from their parents

By obtaining the mid-parental height

if male, add together the father’s and the mother’s height, divide this by two then add 7cm to the total (still normal if +/- 10cm)
if female, add together the father’s and the mother’s height, divide this by two then subtract 7cm from the total (Still normal if +/-8.5cm)

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What is bone age an indicator of

Skeletal maturation: how much growth has taken place and how much there is left.

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Name the method that’s used to stage puberty

+ describe the stages (5)

TANNER METHOD

Breast development (stage 1-5) (females only)
Genital development (stage 1-5) (males only)
Pubic hair (stage 1-5)
Axillary hair (stage 1-3)
Testicular volume (2-20ml)

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Reasons for delayed bone age (4)

Constitutional delay of growth
Growth hormone deficiency
Hypothyroidism
Malnutrition/chronic illness

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Reasons for advanced bone age (6)

Tall stature
Premature adrenarche 
Overweight
Early puberty
Congenital Adrenal Hyperplasia
Overgrowth syndromes

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Name 2 normal variations of growth

Familial short stature (FSS)
-associated with normal skeletal maturation

Constitutional growth delay (CGD)
-delayed bone age but eventually will catch up

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Be aware of the main patterns of growth disorders

Short and thin
Short and fat,
Short and dysmorphic

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Prepubertal sizes of testicles are estimated to be of what testicular volume

Pubertal sizes of testicles are estimated to be of what testicular volume

Adult sizes of testicles are estimated to be of what testicular volume

Prepubertal sizes - 1–3 ml,

pubertal sizes - 4 ml and up

adult sizes - 12-25ml

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Know the history and examination features to be identified when assessing growth disorders

Birth weight
PMH/ FH/ SH
Growth charts

Examination:
Dysmorphic features
Current height/weight
Bone age
Pubertal assessment

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Define normal growth

progression of changes in height, weight, and head circumference that are compatible with established standards for a given population

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Factors influencing height (7)

Age
Sex
Race
Nutrition
Parental height
Puberty
Growth disorder

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Growth is driven by what in infantile years of life (0-2)

+ is growth rapid or not in this 2 years

NUTRITION, not growth hormone

rapid growth

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Growth in childhood years (2-12) is largely driven by what hormones
+ is growth rapid or not in these childhood years

Growth hormone
Thyroxine

Not as rapid growth as infantile years

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Growth in pubertal years of life (12+) is largely driven by what

Sex steroids that cause an increase in growth hormone secretion:

testosterone in boys
oestrogen in girls

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Growth acceleration is limited towards the end of puberty by what

fusion of the epiphyseal plates (due to oestrogen in both sexes)

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Do males/females grow faster at start of puberty

Females

Males grow fastest in mid-puberty

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What is menarche + around what age does it start

Start of menstruation, i.e. first period

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Tanner pubertal stage indicating start of puberty

males (2)
females

To help:
TANNER METHOD
-Breast development (stage 1-5) (females)
-Genital development (stage 1-5) (males)
-Pubic hair (stage 1-5)
-Axillary hair (stage 1-3)
-Testicular volume (2-20ml)

Males - G2 (scrotum and testes begin to enlarge) and T3-4ml

Females - B2 (breast budding)

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Men end up taller than women by around 12.5cm because of what 3 factors

Pubertal growth spurt starts 2 years later than in girls (14 yr compared to 12 yr)

Pubertal growth spurt is more intense in boys

Boys are slightly bigger than girls during childhood

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Pubertal growth spurt age in

males
females

14 (12-16)

12 (10-14)
-EARLIER in females

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Effect of obesity on childhood growth

Usually taller than those the same age

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Non-pathological causes of short stature (3)

Familial

Constitutional delay - short initially but eventually will catch up, however will be in lower half of target range

Small for gestational age (SGA)

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Pathological causes of short stature (6)

Undernutrition

Chronic illness (juvenile idiopathic arthritis, IBD)

Iatrogenic (Steroids)

Psychosocial factors

Hormonal (growth hormone deficiency, hypothyroidism)

Genetic syndromes (turner, prader willi)

Genetic syndromes that affect growth (4)

Turner syndrome (--> short stature in females) Prader willi syndrome (--> short stature in males) Noonan's syndrome (--> short stature in both sexes) Achondroplasia (--> short limbs --> disproportionate short stature)

Clinical features of growth hormone deficiency (hypopituitarism) in newborns (3) + other clinical features in general (3)

hypoglycaemia, prolonged jaundice, micropenis Excess subcutaneous tissue Mid-face hypoplasia Delayed skeletal maturation

3 most common characteristics of Noonan syndrome

unusual facial features short stature (restricted growth) heart defects present at birth (congenital heart disease)

What is achondroplasia + clinical features

Genetic bone growth disorder that causes disproportionate dwarfism Normal sized trunk but short legs and arms -mainly affects the upper arms and thighs

What is turner syndrome + clinical features (5)

Chromosomal abnormality involving a complete/ partial absence of the second sex chromosome --> 45, X ``` Short stature Underdeveloped ovaries (gonadal dysgenesis) Webbed neck Delayed puberty Congenital heart defects ```

What is prader willi syndrome + clinical features (4)

Chromosomal abnormality of chromosome 15 Excessive appetite --> overweight Short stature Intellectual impairment Weak muscles (hypotonia)

What is Noonan's syndrome + clinical features (4)

Autosomal dominant inherited disorder short stature, facial dysmorphisms, chest deformity, congenital heart disease

It's common for males to have delayed puberty at what age and above + especially what group of boys does this occur in

>14 Those with constitutional delay of growth and puberty (CDGP)

Causes of delayed puberty (3)

Constitutional delay of growth and puberty (CDGP) - mainly boys Gonadal dysgenesis (e.g. turner syndrome) Chronic disease (e.g. crohn's)

What is thelarche

onset/appearance of breast development in girls - usually occurring at start of puberty

What is infantile thelarche/ premature thelarche

Early sexual, specifically breast, development in females Incomplete form of pubertal development without any other signs Is a NORMAL VARIANT of pubertal development

What is true/ central precocious puberty + what investigation needs to be done

Early puberty signs that's thought to be linked with problems in the hypothalamus/pituitary gland (hence CENTRAL) Hypothalamus starts releasing gonadotropin-releasing hormone at an earlier age than usual - -> early breast/testicular development - -> advanced bone age MRI - TO EXLUDE PITUITARY TUMOUR

What is premature pubarche

Normal variant of pubertal development in which pubic and/or axillary hair develops early

What is adrenarche

early stage in sexual maturation where adrenal gland starts secreting increased levels of androgens which promote development of pubic hair, oily skin, oily hair, body odour

Cause of central precocious puberty in girls v boys

Usually idiopathic in girls Boys more likely to have a trigger like brain tumour

What is precocious pseudopuberty + condition needs to be excluded

Partial pubertal development that results from gonadotropin-independent (i.e. independent of luteinizing hormone or follicle stimulating hormone) production of testosterone in a prepubertal boy so testosterone secretion is abnormal MUST EXCLUDE CAH

What to assess in an obese child (4)

Weight BMI Height Waist circumference

If child is obese AND short, is this normal

No Obese children are usually taller

Pathological causes of obesity in children (4)

Genetic syndrome, e.g. prader willi Hypothalamic-pituitary pathology Endocrine disorders Drugs, e.g. insulin, steroids

Complications of obesity (6)

``` Fatty liver disease Gallstones Reproductive dysfunction Nutritional deficiencies Sleep apnoea Heart disease ```

Drugs that can increase weight (4)

Inuslin Steroids Antithyroid drugs Sodium valproate

Genetic syndromes that cause obesity

Prader willi | Down's syndrome

Endocrine disorders that cause weight gain/obesity (5)

``` Hypothyroidism Growth hormone deficiency Glucorticoid excess Hypothalamic lesion, e.g. tumour, trauma (--> loss of appetite control) Insulinoma ```

Treatment of obesity (3)

diet change Exercise Psychological support

Clinical features of hypopituitarism in adults (5) + children (4)

Children - dwarfism/short stature - slow growth - overweight - delayed puberty Adults - premature ageing - fatigue - infertility - reduced sex drive - decreased body hair

What is congenital adrenal hyperplasia

A group of autosomal recessive inherited enzyme deficiencies - missing the enzyme that stimulates the adrenal glands to release corticosteroids, e.g. cortisol

What condition is associated with females being born with virilised (male looking) genitalia

Congenital adrenal hyperplasia

Clinical features of congenital adrenal hyperplasia (CAH) (5)

Dehydration --> hyponatraemia hypoglycaemia Weight loss Vomiting Ambiguous genitalia

How to immediately test for diabetes in children

Finger prick capillary glucose test If >11mmol/l then suspicious, phone specialist for same day review

Typical 4 symptoms of type 1 diabetes

Thirsty Fatigue Weight loss Peeing more

Tools to assess growth in childhood

``` Height/ length/ weight Growth Charts and plotting MPH and Target centiles Growth velocity Bone age Pubertal assessment ```

IGF-1 is a marker of what hormone

What simple medical instrument can be used to assess testicular volume

Orchidometer

Puberty is considered early or delayed at what age - males - females

Males <9 (rare), >14 Females <8, >13 (rare)

Commonest cause of acquired hypothyroidism in kids + symptoms/signs

Hashimoto's thyroiditis Symptoms/signs - lack of HEIGHT gain - pubertal delay