Growth Faltering, Puberty and Growth Charts

Normal Growth

Foetal growth Fastest. Insulin, IGF-II regulated. Maternal size, nutrition and
intrauterine environment effect growth. Genetics plays a major factor.
Infantile (0-2) Rapid but decelerating rate. Determined by nutrition.
Childhood (until puberty) GH dependent
Puberty GH and sex hormone dependent. Growth spurt
o Oestrogen matures epiphysis of bones plates fuse
o Final height is attained
o Females grow earlier but at not in as great a scale

Normal Puberty

LHRH initiation
LH, FSH released from anterior pituitary
Females aged 8.5-12.5 (10.5)
Males aged 10-13.5 (12.)
Females Breast development -> Pubic hair -> growth.
o Menarche 2.5 years after start (13yo)
Males Testicular enlargement >4ml -> Pubic hair -> growth
Tanner stages of puberty (I-V)

Growth Assessment

Height
o <2 Horizontal measuring board
o >2 standing harpenden stadiometer (can use sitting height table)
UK-WHO growth chart
o Pencil dots, unconnected
o Centiles Optimum range of weights and height
Shows percentage expected to be below line
Half should be between 25-75th centile
Within space of line = on the X centile
Greater than >1/4 from centile = between centile X and Y
Centile space Space between two centiles

Weight Faltering

Failure to thrive (FTT) Failure of expected growth (drop of 2 centiles or

more), in a short space of time
Causes
o Organic
Lack of food
Feeding difficulties
Cleft lip/palate
 Chromosomal abnormalities/syndromes
o Turner
o Noonan
o Down
Swallowing difficulties
CNS disease
Obstruction
o Achalsia
o Hiatus Hernia
o Pyloric stenosis
Malabsorption/digestion
Diarrhoea
Coeliac
Milk protein intolerance
IBD
Liver disease
Short gut syndrome
Pancreatic insufficiency
o CF
Lactose intolerance
Increased loss/demand
Endocrine Hyperthyroidism, DM
Infection
CHD
Malignancy (rare)
Steroids
Chronic renal failure
o Non-Organic
Environmental deprivation
Maternal psychiatric illness
Parental difficulties
Parental learning difficulty

Intrauterine Growth Retardation

Reduction in expected foetal growth

3-10% of pregnancy
Catch up growth after 2 years
Risk of hypertension, CHD, PCOS, T2DM

Turner Syndrome (45 X0)

What
Loss of second sex chromosome
Features
Short stature - Growth rate reduction at 3-5
 Skeletal dysplasia
20cm height less than normal
Ovarian dysgenesis - Gonadal failure - loss of puberty growth
Low posterior hairline
Broad neck, ptosis, wide nipples
Puffy hands/feet
Treatment
SC rhGH daily
Oestrogen - Induce puberty
Complications
CHD - VSD, coarctation
Renal abnormalities - Horseshoe kidney

Noonan Syndrome
What
Autosomal Dominant
PTPN11 gene on chromosome 12q
Features
Short stature
Face - Hypertelorism, ptosis, ear abnormalities
Broad neck
Congenital heart disease - Pulmonary stenosis
Cardiomyopathy
Pectus carinatum superiorly, pectus excavatum inferiorly
Developmental delay
Undescended testes

Down Syndrome
Aetiology
95% Trisomy 21
2% Robertsonian translocation
2% mosaic
Features
Presents at birth
Hypotonic and head lag
Face - Low ears, up slanting eyes, epicanthic folds, flat face, protruding
tongue
Brushfield's spots - White spots in iris
Flat occiput and short neck
Limp - Brachydactyly, Clinodactyly, single palmar crease, sandal gap in
toes
Short stature
Intellectual impairment
Investigations
Chromosomal analysis
Complications
Congenital heart disease - AVSD, ASD, VSD, Tetralogy of Fallot
GI - Duodenal/anal atresia
Infections
DHD
Eczema
Deafness
 Cataracts
Leukaemia - 1%
Hypothyroidism
Alzheimer disease by 40
Management
Cardiac assessment, Hip USS, Audiology, TFT, Ophthalmology
Genetic counselling
Down Association