The Low-Down on an Evidence-Based Approach to ShortStature 2015... · Introduction Important in all...
Transcript of The Low-Down on an Evidence-Based Approach to ShortStature 2015... · Introduction Important in all...
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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
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Disclosures
I have none to declare
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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
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Background
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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
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Example of prenatal influencesInfant of a diabetic mother Congenital hypothyroidism
FASCongenital infection
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Phases of growth
Prenatal
Postnatal Genetics
Parental size
Nutrition
Health
Hormones
Prenatal
Postnatal Genetics
Parental size
Nutrition
Health
Hormones
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Phases of linear growth
Growthhormone
Sex steroids
Height velocity curves Individual height curves
Nutrition
Growthhormone
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Early wobble
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Finding your centile
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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
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Causes of short stature
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Causes of short stature
Familial(short parents)
Delayed pubertyBony dysplasias
Nurture
SGA
ChronicillnessChromosomes
Syndromes
Hormones
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Familial short stature
Familial(short parents)
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CalculateMidParentalheight
Boy: Father + [Mother+13cm]/2+/- 8.5cm
Girl: [Father-13cm]/2+ Mother+/- 8.5cm
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Constitutional delay of growthand puberty
Familial(short parents)
Delayed puberty
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Small for gestational age
Familial(short parents)
Delayed puberty
SGA
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85% show‘catch-up’growth..
the rest staysmall
85% show‘catch-up’growth..
the rest staysmall =15%
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Chronic illness
Familial(short parents)
Delayed pubertyDelayed puberty
Chronicillness
SGA
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Chromosomes
Familial(short parents)
Delayed pubertyDelayed puberty
Chronicillness
SGA
Chromosomes
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SHOX gene
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DownsDownsSyndromeSyndrome
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Syndromes
Familial(short parents)
Delayed puberty
Chronicillness
SGA
Chromosomes
Syndromes
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PraderPrader WilliWilliSyndromeSyndrome
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NoonanNoonanSyndromeSyndrome
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SilverSilverRussellRussell
SyndromeSyndrome
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Bony dysplasias
Familial(short parents)
Bonydysplasias
Delayed puberty
Chronicillness
SGA
Chromosomes
Syndromes
Bonydysplasias
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Nurture
Familial(short parents)
Bonydysplasias
Nurture
Delayed puberty
Chronicillness
SGA
Chromsomes
Syndromes
Bonydysplasias
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Hormones
Familial(short parents)
Delayed pubertyBony dysplasias
Nurture
SGA
ChronicillnessChromosomes
Syndromes
Hormones
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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 **
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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
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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
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Baseline investigations
Accurate history, examination and auxologicaldata most important
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Baseline investigations
Accurate history, examination and auxologicaldata most important
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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
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1 2
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12
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1 2
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Twin 2
Twin 1
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Twin 2
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2
1
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Summary The shorter the child, the more
probability of a pathology
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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
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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