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The Low-Down on anEvidence-Based Approachto Short Stature
The Low-Down on anEvidence-Based Approachto Short Stature
AKASH SINHAMBBS, MD/PHD, MRCPCH, FRCPCPAEDIATRIC ENDOCRINOLOGIST/ PAEDIATRICIANABBOTSFORD2015
Disclosures
I have none to declare
Introduction Important in all areas of medicine dealing with children Perceived or real impairment of growth Referred due to physical, psychological or social difficulties In most it is a variation of normal physiology rather than a
pathological cause However all need logical process of assessment
Important in all areas of medicine dealing with children Perceived or real impairment of growth Referred due to physical, psychological or social difficulties In most it is a variation of normal physiology rather than a
pathological cause However all need logical process of assessment
Background
Phases of growth
Prenatal Genetics Maternal size Maternal health Nutritional supply
Postnatal
Predominantly interested in postnatal growth Different influences
Prenatal Genetics Maternal size Maternal health Nutritional supply
Postnatal
Predominantly interested in postnatal growth Different influences
Example of prenatal influencesInfant of a diabetic mother Congenital hypothyroidism
FASCongenital infection
Phases of growth
Prenatal
Postnatal Genetics
Parental size
Nutrition
Health
Hormones
Prenatal
Postnatal Genetics
Parental size
Nutrition
Health
Hormones
Phases of linear growth
Growthhormone
Sex steroids
Height velocity curves Individual height curves
Nutrition
Growthhormone
Early wobble
Finding your centile
Pubertal growth♀: Growth spurt 2 yearsbefore boys, at start of clinicalpuberty
Peak height velocity ~12 years
Followed by menarche
Peak height velocity ~8 cm/yr
♂: Growth spurt when pubertyalready well established(testicular volume 10-12 mls)
Peak height velocity ~14 years
Peak height velocity ~10cm/yr
♀: Growth spurt 2 yearsbefore boys, at start of clinicalpuberty
Peak height velocity ~12 years
Followed by menarche
Peak height velocity ~8 cm/yr
♂: Growth spurt when pubertyalready well established(testicular volume 10-12 mls)
Peak height velocity ~14 years
Peak height velocity ~10cm/yr
♂>♀ height by ~13-13.5 cm
Causes of short stature
Causes of short stature
Familial(short parents)
Delayed pubertyBony dysplasias
Nurture
SGA
ChronicillnessChromosomes
Syndromes
Hormones
Familial short stature
Familial(short parents)
CalculateMidParentalheight
Boy: Father + [Mother+13cm]/2+/- 8.5cm
Girl: [Father-13cm]/2+ Mother+/- 8.5cm
Constitutional delay of growthand puberty
Familial(short parents)
Delayed puberty
Small for gestational age
Familial(short parents)
Delayed puberty
SGA
85% show‘catch-up’growth..
the rest staysmall
85% show‘catch-up’growth..
the rest staysmall =15%
Chronic illness
Familial(short parents)
Delayed pubertyDelayed puberty
Chronicillness
SGA
Chromosomes
Familial(short parents)
Delayed pubertyDelayed puberty
Chronicillness
SGA
Chromosomes
SHOX gene
DownsDownsSyndromeSyndrome
Syndromes
Familial(short parents)
Delayed puberty
Chronicillness
SGA
Chromosomes
Syndromes
PraderPrader WilliWilliSyndromeSyndrome
NoonanNoonanSyndromeSyndrome
SilverSilverRussellRussell
SyndromeSyndrome
Bony dysplasias
Familial(short parents)
Bonydysplasias
Delayed puberty
Chronicillness
SGA
Chromosomes
Syndromes
Bonydysplasias
Nurture
Familial(short parents)
Bonydysplasias
Nurture
Delayed puberty
Chronicillness
SGA
Chromsomes
Syndromes
Bonydysplasias
Hormones
Familial(short parents)
Delayed pubertyBony dysplasias
Nurture
SGA
ChronicillnessChromosomes
Syndromes
Hormones
Endocrine disorders
Growth hormone insufficiency
Pseudohypoparathyroidism
Hypothyroidism
Cushing’s syndrome
GH resistance (Laron syndrome)
Growth hormone insufficiency
Pseudohypoparathyroidism
Hypothyroidism
Cushing’s syndrome
GH resistance (Laron syndrome)
** Height/weight comparison **
Causes GH insufficiency
GeneticGH-1 or GHRH receptor mutations Pit-1, Prop-1 mutations
CongenitalGHRH deficiency (~80%, isolated GH deficiency) Structural defects: SOD, holoprosencephaly, agenesis
of corpus callosum Intrauterine infections
AcquiredCNS tumours: cranio, germinoma, optic glioma LCH, inflammatory disease Head injury, cranial irradiation
GeneticGH-1 or GHRH receptor mutations Pit-1, Prop-1 mutations
CongenitalGHRH deficiency (~80%, isolated GH deficiency) Structural defects: SOD, holoprosencephaly, agenesis
of corpus callosum Intrauterine infections
AcquiredCNS tumours: cranio, germinoma, optic glioma LCH, inflammatory disease Head injury, cranial irradiation
Diagnosis GH deficiency Diagnosis not easy! Auxological data:
Short with height below parental target Subnormal height velocity
Dysmorphic features-mid facial crowding and central adiposity Biochemical data:
Isolated GH level no use IGF-1 occasionally helpful GH stimulation tests
Glucagon
Insulin tolerance test
Radiological data: Abnormal MRI pituitary gland
Diagnosis not easy! Auxological data:
Short with height below parental target Subnormal height velocity
Dysmorphic features-mid facial crowding and central adiposity Biochemical data:
Isolated GH level no use IGF-1 occasionally helpful GH stimulation tests
Glucagon
Insulin tolerance test
Radiological data: Abnormal MRI pituitary gland
Baseline investigations
Accurate history, examination and auxologicaldata most important
Baseline investigations
Accurate history, examination and auxologicaldata most important
Baseline investigations
Accurate history, examination and auxologicaldata most important
If required:CBC, ESR/CRP Lytes,BUN, creatinine, bicarbonateCalcium, phosphate, PTH, liver enzymesCoeliac screen Karyotype (girls) TFTs, prolactin, IGF-1 Bone age
? Genetics opinion if dysmorphic /disproportionate
Accurate history, examination and auxologicaldata most important
If required:CBC, ESR/CRP Lytes,BUN, creatinine, bicarbonateCalcium, phosphate, PTH, liver enzymesCoeliac screen Karyotype (girls) TFTs, prolactin, IGF-1 Bone age
? Genetics opinion if dysmorphic /disproportionate
1 2
12
1 2
Twin 2
Twin 1
Twin 2
2
1
Summary The shorter the child, the more
probability of a pathology
Summary The shorter the child, the more
probability of a pathology The further away from the
parental target height, the moreprobability of a pathology
The most useful tool is a GROWTHCHART
The shorter the child, the moreprobability of a pathology
The further away from theparental target height, the moreprobability of a pathology
The most useful tool is a GROWTHCHART
Summary The shorter the child, the more
probability of a pathology The further away from the
parental target height, the moreprobability of a pathology
The most useful tool is a GROWTHCHART
Children with GHD are not slimand do not have a well-definedmusculature
The short, heavy child is morelikely to have pathology than arelatively tall, heavy child
The shorter the child, the moreprobability of a pathology
The further away from theparental target height, the moreprobability of a pathology
The most useful tool is a GROWTHCHART
Children with GHD are not slimand do not have a well-definedmusculature
The short, heavy child is morelikely to have pathology than arelatively tall, heavy child