Short Stature, PDF

short stature September 13th, 2022  By the end of this lecture, we will be able to: Define short stature. Mention types of short stature. Mention the principles of diagnosis. Identify the causes of short stature. Outlines about Managements. I may use Kurdish la...

short stature September 13th, 2022  By the end of this lecture, we will be able to: Define short stature. Mention types of short stature. Mention the principles of diagnosis. Identify the causes of short stature. Outlines about Managements. I may use Kurdish language some times for clarification and discussion ??? Hay mala‫ط‬a, it’s okayy  Growth Growth refers to an increase in physical size of the whole body or any of its parts. It is simply a quantitative change in the child’s F - body. It can be measured in Kg, pounds, meters, inches, ….. etc  Development Development refers to a progressive increase in skill and capacity of function. Gun - It is a qualitative change in the child’s. functioning. It can be measured through observation.  Factors affecting growth Birth size INGRIBITUALEA Nutrition Celia's Mount General well being last Psycosocial factors erect Endocrinal factors → best thing to think of.  Short stature causes cProportionate Disproportionate Normal variant Pathological (Physiological) Familial short stature Prenatal (SGA): 2 bo stlegs Increase U/L ratio = short lower Constitutional Delay - IUGR limb (skeletal dysplasias): - ToRCH I Drums AKAI - Achondroplasia - Genetic (Chromosomal & - Osteogenesis imperfecta Metabolic Disorders) Decreased U/L ratio: arm Postnatal Causes: 0 - Short trunk: MPS, Scoliosis - Short neck: Turner syndrome Em 10001 1. Undernutrition aEEI 2. Chronic Systemic Illness - Cardio: CHD. - Respiratory: Asthma. - Renal: RTA, CKD (=CRF, CRI) Hypophosphateria I - GIT: Malabsorption. - Chronic Severe Infections c I - Hematological:Thalassemia. 3. Psychosocial Short Stature. emotionaldeprivation 4. Endocrine causes: - GH Deficiency or resistance. - Hypothyroidism - Cushing syndrome  Normal growth Length at birth :50 cm Length at 1 yr : 75 cm Height at 4 yr : height at birth X 2 (100 cm ) Height at 13 yr : height at birth X 3 =150 cm From 2-12 yr : age (yr ) X 6 + 77  Is she short? Example: 5 Y – girl  Assessment of a child with short stature Accurate height measurement& height velocity Height plotted on appropriate growth chart.  Normal Measuring Infante meter Supine length < 2 y of age For measurement of supine length it is best to use a firm box with an inflexible board against which the head lies, with a movable footboard on which the feet are placed. Erect height > 2 y stadiometer The head is held in a horizontal plane Q Upward pressure is applied to the mastoid processes in order to encourage the child to stand up straight.  Is she short? Example: 50 ↳ no , 5 Y – girl – not short Ht=105 cm Wt=17 Kg Is she short? Example: 50 3 Y – girl – no not , Ht=95 cm shoot Wt=10 Kg 3rd their weight  Short Stature Vs F.T.T short stature should not be confused with failure to thrive. faltering growth Failure to thrive is associated with greater impairment in weight gain than linear growth (resulting in a reduced weight-for-height ratio). Although failure to thrive may be associated with short stature or slow growth velocity, it primarily represents an inability to gain weight appropriately and only secondarily an impairment in linear growth  Clinically we say below serienile Short child: Any child whose height falls below the 3rd centile for his/her community. ifshortbut -80 Failure of physical growth notbelow 5ᵗʰ percentile Then askfor followu The term ‘Dwarfism’ is no longer used for short in monthsto stature see Ithand Apprximately 3% children in any population will ifstopped it has be short. Half of them normal variants(familial or constitutional short stature).  Is he short? Example: 3Y – boy – Ht=85 cm 3rd Yes Wt=14 Kg  Short child CA FIVE GOLDEN POINTS Chronological age = 1- Accurate & Serial measures. 2- Mid Parental Height (MPH). 3- Height age. HA 4- Bone Age. BA instead 5- appropriates Investigations. 3 levels Enda wig Hoist labile H W nutritious  Important definitions Chronological age – Actual age of the child. Height age – it’s the age at which the height of the child is at 50th centile. Bone age - is an indicator of skeletal maturation. Height Mid parental Target MPH: F+M/2 +6.5 for boys and -6.5 for girls. - Then plot the result on Growth Chart at Age 20 to form Family chart ±10 to form centile -1-6.5 ( boys ) Mp # fntherheyh-2M.tt#iht.r.g( girls)  Guidelines for referral  UK guidelines, depend on single measurement on school entrance, at 5years of age , no data on sensitivity and specificity  I Body Proportions Lower segment (LS): Measure from the symphysis pubis to the floor. w̅ important for POP → casting Upper segment (US): Subtract the LS from the height. U/L birth = 1.7 U/L 3years = 1.3 U/L > 7 years = 1 Proportionate (ie, involves both the trunk and the lower extremities) or Disproportionate (ie, involves one more than the other).  ask about parents present if and measure height teach FH m _t.EEfgytgY applyThis observe 41111 If below This centile height pathological Strength eg on UTI Ameobials GS E CBC auchin RFT LFT Coménfetitive Celiac XR TB Yno setup Thyroidfunctiontests Xray lefthand bone age ofmktg 12 years pathological heightage bone age atmorning fasting iitfine I iiii IGF is low p.gg Dynamic Test If for test shyabolished CEEY.EE iiii hi If oh def give GH 3mgthld.us atrent subcutaneously iii Ifi1 ns Inherent  Disproportionate (ie, involves one more than the other). U/L > Increase ratio ---------- short lower limb. (e.g. Achondroplasia, Skeletal dysplasia) U/L < Decrease ratio : Mucopolysaccharidosis type I (MPS I) is a rare disease in which the body is missing or does not have enough of an enzyme needed to break down long Short trunk (Scoliosis, MPS) chains of sugar molecules. Individuals with severe MPS 1 may have a large head Short neck (Turner Syndrome). (macrocephaly), clouding of the cornea, hearing loss, recurrent ear and upper respiratory infections, enlarged organs including liver, spleen and vocal cords, heart disease, short stature, hernias, and carpal tunnel syndrome.  Mid parental height (MPH) Comparison with child’s own genetic potentia Mid parental height for boys MPH = mother's height + father's height /2 + 6.5cm Mid parental height for girls MPH = mother's height + father's height /2 – 6.5cm Then plot the result on Growth Chart at Age 20 to form Family chart ±10  Family Chart MPH= 153.5±10 Example: 3 Y – girl – 00 Ht=85 cm --Wt=10 Kg Father Ht= 165 cm 3rd ↓ Mother Ht= 155 cm short but , regard as familial MPH= 160-6.5= 153.5 Plot on age 20 153.5 ±10 143.5 – 163.5  Height age Height it’s the age ofata which personthe atheight th percentile the 50of the child is at for 50th centile. their age.  Height age Examples: Girl- Age = 5 y Ht= 95 cm Height age= ? 8 Height age is 3 years ( she is as tall as someone 3 years old)  Example: 10 Y male,HT=115 HT< 3RD HA= 6 Y  There are several reasons for using left hand and wrist radiographs for bone age assessment rather than right hand and wrist radiographs. One reason is that most people are right-handed, and therefore, the right hand is more likely to be injured than the left hand Bone age estimated from an x-ray of the left wrist and hand should be undertaken as part of the routine evaluation of children with growth failure over 1 year of age. It is important investigation in evaluation of patient with short stature and diagnosis of GHD in which it is usually delayed. deficiency -1-2 Bone age is normal , beyond that is Pathological GP method and Manchester United method the Greulich-Pyle Atlas method (GP method) in which a left-hand wrist radiograph is compared by means of a sequence of radiographs grouped in the atlas according to age and gender. bone age of,?} no growth more  Is she short? MPH= 153.5±10 Example: 3 Y – girl – Ht=85 cm --Wt=10 Kg Father Ht= 165 cm 3rd Mother Ht= 155 cm MPH= 160-6.5= 153.5 Plot on age 20 50th 153.5 ±10 143.5 – 163.5 l Bone Age = normal l l l Familial short stature  Is she short? MPH= 163.5 ±10 Example: 5.5 Y – girl 0 Ht= 98 cm --Wt=13 Kg Father Ht= 175 cm Mother Ht= 165 cm 3rd became MPH= 170-6.5= it normal 163.5 ±10 delay in growth HT Age=3.5 years initially , but 0 She will catch up later Bone Age=3.5 years → short MYinitial] 50th It Constitutional short stature  A IBAsian Features Familial Short Constitutional Stature Delay Parent’s Stature Small one or both Average Parent’s Puberty Usual timing Delayed Birth Length Normal Normal Growth Normal Normal to slow Growth Puberty Normal Slow Bone Age Normal Delayed 0 0 Timing of Puberty Normal Delayed Puberty Growth Low range of Normal Diminished Rate Adult Height Short Normal they will catch up eventually  Is she short? MPH= 163.5 ±10 Example: 5 Y – girl – Ht= 98 cm --Wt=15 Kg Father Ht= 175 cm Mother Ht= 165 cm 3rd MPH= 170-6.5= 163.5 ±10 nobody HT Age=3.5 years Bone Age=1 year CHA 50th Pathological short stature BA < HA < CA  11 Investigations Level 1 ( essential investigations): CBC CBCXES T.EE Complete hemogram with ESR BONE AGE Left Chind wrist Ray) Urinalysis ( Microscopy, pH, Osmolality) UTI Stool ( parasites, steatorrhea, occult blood) Blood ( RFT, Calcium, Phosphate, alkaline phosphatase, fasting sugar, albumin, transaminases) ALT, AST  HYPHONE Level 2: Observer Serum thyroxine, TSH (TF T) Karyotype to rule out Turner syndrome in girls Observe height velocity for 6-12 months If height < 3SD level 3 investigations < 1 centile Level 3: Celiac serology ( anti- endomysial or anti- tissue transglutaminase antibodies) eine Duodenal biopsy GH stimulation test with Clonidine or insulin & serum insulin like GF-1 levels IGF-1  GH secretion occurs in discrete irregular pulses Between the pulses, circulating GH falls to levels that are undetectable with current assays Greatest GH levels at night, generally correlating with the onset of sleep GH secretion is influenced by other physiological stimuli such as nutrition and exercise  Random sampling of serum GH is insufficient to diagnose GH deficiency; GH stimulation tests are required A limited number of provocative agents should be o used after an overnight fast in a well standardized protocol. Insulin tolerance test (ITT) → induce hypoglycemia , but dangerous Glucagon test (100 microgrammes/kg BW IM(max.1 mg) L-dopa test ¥ dependable not Arginine test(0.5g/kg BW , slow IV infusion (max,30g) , very expensive Clonidine test (0.1- 0.15 mg/kg BW orally). ↳ Lz induce agonist hypotension & measure GH at 0,30 , 60 , 90 min  #2 In healthy volunteers peak GH levels are 10 ng/ml (20 mU/ml). c If peak GH level of 10 ng/ml (20 mU/ml) is detected , it exclude classical GHD In a classical GHD case a GH peak is not detected or GH peak is less than 3 ng/ml (6 mU/ml) in all these tests. C ng or 6h4 In partial GHD cases GH peak of 8-10 ng/ml (16-20 mU/ml) may be seen.  Insulin-like growth factor-binding protein IGFBP-3 and IGF-1 serum levels represent a stable and integrated measurement of GH production and tissue effects The combination of IGF-1 and IGFBP-3 measurements appears superior to determining either analyte alone in the diagnosis of growth hormone (GH) related disorders  If IGF-1 and IGBP-3 level are normal then it shows that GH level is also normal1(no need for SO GH testing) > 150 - If IGF-1 and IGBP-3 level are low then it may be due to GH def or GH resistance----- If GH also low then GH def, (Hypopituitarism) if GH normal or high then GH resistance ( Primary IGF-1 def), (Laron syndrome). AR mutation of GH receptor, so IGF-1 is not released in response to GH  Approach to short stature (now in Heevi Hospital) 1- Height (CDC) ↓ 3rd centile O 2- Family Chart: HT ↓ MPH 3- Bone age evaluation by greulich and pyle method. 4- BA < HA