Growth and Endocrine Flashcards
What factor affect height
Genetics = most important Age Sex Race SGA Nutrition Parental height Bone age Socio-economic Psychological Chronic disease Specific growth disorder - hypothyroid / GH deficiency Puberty Drugs - steroid Syndrome
What causes growth in infant, child puberty
Infant = nutrition + insulin
Quick growth
Child = GH
If defiant won’t grow
Puberty
GH
Sex hormones
Rapid growth spurt
How do you assess growth development
Height / length Weight Growth chart Mid Parental Height Growth velocity Bone Age Pubertal Assessment Head circumference
When do you refer
Extreme shortchanged or tall Below target heigh Abnormal velocity of height Hx chronic disease Obvious dysmorphia Early / late puberty
What are causes of short stature (2 SD below for age and sex)
Familial Constituional delay SGA / IUGR - give GH Undernutrition Chronic disease - IBD / coeliac Iatrogenic - steroid Psychological Endocrine Syndromes
What endocrine cause short stature
GH deficiency
Hypothyroid
Glucocorticoid excess
What syndromes cause short stature
Turner Down's Prader-Willi Noonan Achondroplasia
How do you investigate short stature
FBC + ferritin U+E, LFT, Ca, CRP Coeliac serology and IgA IGF-1, TFT, prolactin, cortisol, sex hormones Karyotype for syndrome MRI pituitary
What do you do if IGF-1 is low
GH stimulation test
If negative = GH deficiency
What is achondroplasia
AD Trident hand Lumbar lordosis Midface hypoplasia Macrocephaly Short fingers
How do you treat SGA
GH
When do you review bt GP
Growth <2nd gentile
WHen do you review by paediatrics routinely
If <0.4
How do you calculate weight
2 (Age + 4)
How much taller do boys grow than girls
12.5cm
How do you calculate mid parental height / predicted height
Boy = (Mum + 12.5/2) + Dad Girl = (Dad - 12.5/2) + mum
What causes failure to thrive
Inadequate nutritional intake Decreased intake / difficulty feeding Increased demand Excess loss / malabsorption Inability to process
What is your weight, length and OFC at birth
3.5kg
50cm
35cm OFC
At 4 months
6.6kg
60cm
12 months
10kg
75cm
45cm OFC
3 years
15kg
95cm
Causes of FTT
Energy < demand
Inadequate intake
- Maternal if breast - poor lactation
- Incorrect feed
- Iron deficiency anaemia
- Neglect
Poor feeding
- Premature
- Neuromuscular causing poor suck
- Cleft lip or palate
Excess loss / malabsorption
- Pyloric stenosis
- Reflux
- Gastroenteritis
- Coeliac
Inability to Process
- Inborn error of metabolism
- Type 1 DM
Increased requirement
- Chronic infection - HIV
- Chronic disease - congenital heart or lung
- Hyperthyroid
- Malignancy
What causes malabsorption
Allergy Coeliac CMPI Short bowel IBD CF Chronic diarrhoea Gastroenteritis
How does FTT present
Growing too slow
Poor weight gain
Delayed mile stone
Faltering of centiles on growth chart
What do you look for in history and exam
Pregnancy Birth Diet FH Social history Dysmorphism Development Posture / neuromuscular Plot height, weight and BMI on growth chart Calculate mid parental - if two below suggests issue
How do you investigate
FOR ALL Trial hospital feed Observation of feeding Parent / child interaction Urine dip for UTI Coeliac screen Further investigations depending on suspected cause
If good intake and weight gain
Non-organic
If good intake and no weight gain
Organic
If poor intake
Organic or feeding disorder
What are non organic reversible causes
Poverty Poor support Neglect Drugs or depression in family Poor feeding Emotional deprivation Anorexia / bulimia
Average age of puberty in boys
11.5
Early = <9
Late = >14
Sequence in boys
Testicular growth
Penile growth
Late growth age 14
Facial hair and voice break at the end
Average age of puberty in girls
11
Early <8
Late >13
Sequence in girls
Breast bud
Pubic growth
Early growth
Menarche at end
What causes delayed puberty
Hypogonadotrophic hypogonadism (low FSH / LH leading to low sex hormones)
- Damage to hypothalamus / AP - surgery / RT / tumour
- GH deficiency
- Hypothyroid
- Hyperprolactin
- Serious chronic disease
- Excessive exercise or diet
- Constitutional delay
- Kallman - anosmia
Hypergonadotrophic hypogonadism (high FSH / LH trying to stimulate)
- Damage to gonads - RT / cancer / torsion / mumps / autoimmune
- Cryptochidism
- Klienfelter - XXY
- Turner - XO
- Androgen insensitivity
Other Prader- WIlli Noonan PCOS Imperforate hymen
What causes impaired HPG
Kallman
Craniopharyngioma
What causes constitutional delay
Often FH Due to bone age delay Short stature but will reach normal adult height Puberty is delayed Affects boys Exclude organic and reassure
What causes central precocious puberty (early puberty)
Premature activation of HPG
Gonadotrophin dependent
FSH and LH raised
All areas of puberty early
Do you worry in female
No
Idiopathic
Measure FSH level
Should follow normal sequences
What do you think if boys and what do you do / what does it cause
Brain tumour - Craniopharyngioma / NF
Tubero sclerosis
Hypothyriod
Do MRI
Causes bilateral enlarged testicles
What is thelarche and adrenarche
First breath
First pubic hair
What is pseudo puberty
Gonadotrophin independent FSH and LH low Excess sex hormones produced from sex organs Develop sexual characteristics <8 or <9 Advanced bone age
If bilateral small testis what does it suggest
Adrenal tumour
Adrenal hyperplasia
Steroid
If unilateral enlarged
Gonadal tumour
Lydia as produce androgen
What staging is used for puberty
Tanner staging Axillary hair Pubic hair Breast Genitals Testicular volume
What measures testicular volume
Prader Orichidometer
What is important to notice
Breast bud - B2
Enlargement testicles - 3-4ml
What tests if delayed puberty
History - health, development, FH, diet
Examination - height, weight, puberty
Initial
- FBC, ferritin for anaemia, U+E for CKD and coeliac screen
Hormones
- FSH = 1st line (will differentiate between central and peripheral)
Pelvic USS to assess ovary / confirm normal anatomy
Other
- TFT, IGF-1, serum prolactin
- Genetic testing / Karyotype
- X-ray for bone age in constitutional
- MRI
What must you exclude if ambiguous genitalia
Congenital adrenal hyperplasia
- 21 hydroxyls = most common
What do you give for central puberty
GnRH agonist
What should TV be at peak height velocity
10ml
What is normal
15-25ml
What are normal changes in puberty
Gynaecomastia
Asymmetrical breast
Enlargement of thyroid
If PV bleeding with no sexual characteristics
INVESTIGATE
Trauma
Candida
Vulvovagnitis
When is it rare
Pre-pubertal
What is Klienfelter
47XXY
Primary hypertrophic hypogonadism
High LH / FSH
Low testosterone
How does it present
Appear normal until puberty Tall height Weak muscles Lack 2 sexual characteristics Small testicles Reduced libido
Infertile
Gynaecomastia
How do you Dx
Chromosome analysis
How do you treat
Testosterone injections
Advanced IVF
Breast reduction
MDT = SALT, OT, physio
What can cause it
Testosterone secreting tumour
What is Kallman
XR
Hypogonadotrophic hypogonadism
LH low
Low testosterone
What is associated
Cleft lip
Visual / hearing
What are the symptoms
Cryptorchidism
Anosmia
Normal height
What is androgen insensitivity
XR
Genotype shows 46XY
Female phenotype
How does it present
Breast development
Primary amenorrhoea
Undescended testis
Resistant to testosterone
How do you Dx
Chromosomal analysis
LH high
Testosterone normal
How do you Rx
Counselling
Oestrogen therapy
Remove undescended testis
What causes obesity
Intake > activity = most common Insulin Steroid Sodium valproate Prader Willi Trisomy 21 Hypothyroid GH deficiency Cushing Increased androgen Insulin resistance Hypothalamic damage = no control
What is abnormal
Obese and short
Do BMI adjusted for age and gender
What can obesity cause
SUFE / MSK Poor self esteem Sleep apnoea Snoring Benign intracranial hypertension Type 2 DM IHD Malignancy PCOS Pancreatitis Gall stone Liver disease VTE
Ddx snoring
Obesity Sleep apnoea Nasal polyp Deviated nasal septum Tonsiliits Down's as reduced muscle tongue and large tongue Hypothyroid
How do you investigate
Weight, height, BMI Food diary Drug Hx Genotype TFT / Cortisol / IGF-1
What causes hypothyroid
Autoimmune thyroiditis ‘Hashimoto’ = most common
RT e.g. after leukaemia
Iodine deficiency = most common developing world
Congenital Atheytosis - absence Hypoplasitc - underdevelopment Ectopic Dyshormogenic - doesn't produce
What are the symptoms
Congenital
- Prolonged jaundice
- Hypothermia
- Hypotonia
- Poor feed
- Constipation
- Increased sleeping
- Slow growth / FTT
Acquired
- Poor growth
- Weight gain
- Constipation
- Coarse voice
- Dry skin
- Macroglossia
- Puffy face
- Puberty delay
How do you Dx
Guthrie heal prick for congenital
TSH, thyroid USS, and thyroid Ab
How do you Rx and what are complications if don’t
Within 2 weeks of screen
Levothyroxine
Cretinism if don’t - impaired mental / stuned growth due to permissive on GH and retain infantile features
What are features of adrenal insufficiency in babies
Lethargy Vomiting Poor feed Hypoglycaemia Jaundice FTT
What are features in children
Poor weight gain or loss N+V Anorexia Abdo pain Muscle weakness and crmaps Developmental delay Bronze pigmentation
How do you investigate suspected
U+E - hyponatraemia and hyperkalaemia
Blood glucose - low
Specific tests for adrenal causes
How are kids managed
Growth and development BP U+E Glucose Bone profile VIt D
How is congenital adrenal hyperplasia inherited
AR
What enzyme is deficient
21-hydroxylase
What does it lead too
Underproduction of cortisol and aldosterone as require enzyme to produce from progesteron
Overproduction of androgens - testosterone as excess progesterone converted as don’t require
How do females with severe congenital adrenal hyperplasia present
Ambigious genitalia
Enlarged clitoris
Virilisation
SKIN HYPERPIGMENTATION due to excess ACTH
Salt wasting crisis as cortisol / aldosterone not formed
Hyponatraema, hyperkalaemia and hypoglycaemia
- Leads to poor feed, vomtiing, dehydration and arrhythmia
How do mild cases present in female
Tall for age Absent period Facial hair Deep voice Early period
How do mild cases present in male
Tall for age Deep voice Large penis Bilateral small testicles Early puberty
What causes GH deficiency
Genetic
Acquired - infection, trauma, surgery
What does it occur with
Can be isolated
Or occur with other pituitary hormone deficiency
How does GH deficiency present in neonates
Micropenis
Hypoglycaemia
Severe jaundice
How do older children present
Poor growth
Short stature
Delayed puberty
How do you investigate
GH stimulation test
MRI brain
Genetic test - Turner / Prader-Willi
X-ray for bone age to predict final height
What is GH stimulation
Give hormones which usually stimulate
- Glucagon
- Insulin
Lack of response
How do you Rx
Daily SC GH
Close monitoring of height and development