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    Short Stature: Problem-Based Learning

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    Ahmed Mostafa
    - A 2-year-old boy presented with short stature and developmental delays. Examination found him to be below the 5th percentile for weight and height with hypotonia and hyporeflexia. - Tests found delayed bone age and clinical findings suggestive of congenital hypothyroidism. Congenital hypothyroidism causes short stature due to decreased growth hormone levels and is treated with lifelong thyroid hormone replacement therapy starting in the first few weeks of life. - The boy's history, examination findings, and test results indicate he has congenital hypothyroidism causing his short stature and developmental delays.

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    Short Stature: Problem-Based Learning

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    Ahmed Mostafa
    32 views16 pages
    - A 2-year-old boy presented with short stature and developmental delays. Examination found him to be below the 5th percentile for weight and height with hypotonia and hyporeflexia. - Tests found delayed bone age and clinical findings suggestive of congenital hypothyroidism. Congenital hypothyroidism causes short stature due to decreased growth hormone levels and is treated with lifelong thyroid hormone replacement therapy starting in the first few weeks of life. - The boy's history, examination findings, and test results indicate he has congenital hypothyroidism causing his short stature and developmental delays.

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    Short Stature

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    - A 2-year-old boy presented with short stature and developmental delays. Examination found him to be below the 5th percentile for weight and height with hypotonia and hyporeflexia. - Tests found delayed bone age and clinical findings suggestive of congenital hypothyroidism. Congenital hypothyroidism causes short stature due to decreased growth hormone levels and is treated with lifelong thyroid hormone replacement therapy starting in the first few weeks of life. - The boy's history, examination findings, and test results indicate he has congenital hypothyroidism causing his short stature and developmental delays.

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    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    32 views16 pages

    Short Stature: Problem-Based Learning

    Uploaded by

    Ahmed Mostafa
    - A 2-year-old boy presented with short stature and developmental delays. Examination found him to be below the 5th percentile for weight and height with hypotonia and hyporeflexia. - Tests found delayed bone age and clinical findings suggestive of congenital hypothyroidism. Congenital hypothyroidism causes short stature due to decreased growth hormone levels and is treated with lifelong thyroid hormone replacement therapy starting in the first few weeks of life. - The boy's history, examination findings, and test results indicate he has congenital hypothyroidism causing his short stature and developmental delays.

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    SHORT STATURE

    PROBLEM–BASED LEARNING
    CASE SCENARIO

    • A 2-year-old boy presented with mother complaining of Baby being short. On history taking ,the Child
    had have prolonged physiological jaundice persisted behind his first month of age.
    • The condition was associated with prolonged sleeping hours compared to his sibling at the same age
    and he had weak cry.
    • Normal nutritional history
    • Developmental history noticeably delayed. He started head support at 4 months, sitting at 10 months
    and walking just 2 months ago. He only says less than 5 words.(delayed milestone)
    EXAMINATION

    General look: the patients looks spathic with sub average mentality
    Vital signs: HR 80/min
    RR: 30/min
    Temp.: 36.5 C
    BP : 90/55mmHg
    Measurements ; weight < 5th percentile
    Height < 3rd percentile
    Upper / lower segments : 1.7/1
    EXAMINATION
    Head and neck : opened anterior and posterior fontanels
    Coarse hair with low frontal hair line
    Buffy eye lids
    Protruded tongue and pale libs
    • Delayed dentition
    • Short neck
    • Upper and lower limbs. Short limbs with broad hands, cold skin
    • Chest and abdomen examination : abdominal distention and umbilical hernia
    • Neurological examination: hypotonia and hyporeflexia.
    • Findings are highly suggestive of congenital hypothyroidism
    DEFINITION OF SHORT STATURE

    Height below 5th percentile for age and sex according to Growth Chart
    Figure showing
    Birth to 36 months
    Length for age and weight for age percentile
    TYPES OF SHORT STATURE

    • Proportional short stature


    -Normal variants
    -pathological

    • Disproportionate
    -Short limps
    -Short trunk
    NORMAL PROPORTIONATE SHORT STATURE

    Familial short stature Constitutional delay of growth


    • Most common cause • More common in boys

    • Family history is poistive for short stature • Family history of delay in growth and puberty
    • Normal height parents
    • Short health since birth
    • Normal height at birth
    • Normal growth velocity
    • Transit declaration of growth
    • Normal bone age
    • Delayed bone age
    • Normal puberty • Delayed puberty
    • Adult hight is short • Adult height is normal
    • GH may be useful • GH not useful, Reassurance maybe the only treatment
    PATHOLOGICAL SHORT STATURE

    Proportionate Disproportionate
    • Chronic disease • Skeletal dysplasia:
    Congenital heart diseases ,CKD ,Chronic respiratory failure ,GIT
    diseases e.g. celiac
    Achondroplasia ,Hypochondroplasia ,
    • .Malnutritionn Spondyloepiphyseal
    • .Chronic parasitic infestation.
    dysplasia ,Mucopolysaccharidosis.
    • Endocrinal Diseases
    -GH deficiency , Hypothyroidism ,Cushing syndrome. • Rickets
    Psychological & emotional deprivation.
    • Genetic syndromes : Down syndrome
    EVALUATION OF SHORT STATURE

    • History
    -family history of short stature, delayed puberty or genetic disease
    -history of chronic illnes or socioeconomic problems
    -nutritional history
    -history of drug intake eg steroids

    . Examination
    -height measure for patient, parents, siblings
    -length patient upper segment and lower segment and the Ratio
    EVALUATION OF SHORT STATURE

    • Investigation
    - Bone age assessment: x-ray of the non dominant hand (endocrinal causes)
    - Karytyping : routine for short female exculed Turner syndrome (45X0)
    - Anti-tissue transglutaminase : assessment of Celiac disease
    - Skeletal survey: assessment of Achondroplasia and Rickets
    - Hornonal Assay : for endocrinal causes detected by x-ray
    - -Thyroid profile
    - -Growth hormone stimulation tests
    - -steroids and ACTH
    EVALUATION OF SHORT STATURE
    Further investigation
    Sweat chloride test : detection of Cystic Fibrosis
    Imaging
    CT brain
    MRI Brain : in case of panhypopituitarism
    EVALUATOIN OF CONGENITAL
    HYPOTHYROIDISM
    • History
    -Antenatal :maternal use of antithyroid drugs eg carbimazole
    maternal exopusre to external radiation

    Examination: clinical findings suggesting hypothyroidism


    . Investigation
    -Neonatal screening
    -thyroid profile T3,T4,TSH
    Imaging
    -X-ray: delayed bone age
    -Thyroid scanning : Differentiate between Aplasia, ectopic dysplasia and malfunction
    -Thyroid ultrasound
    EVALUATION OF CONGENITAL
    HYPOTHYROIDISM
    Examination
    Widely opend Ant and post fonatales
    Low anterior hair line
    Swollen eyelid
    Large protruded tonge
    Delayed dentition
    Pale dry yellow skin
    Distended abdomen and abdominal hernia
    Short limps
    EVALUATION OF CONGENITAL
    HYPOTHYROIDISM
    Neonatal screening:
    Done at 3rd -7th day after birth (TSH based screen)
    Blood drop obtained by heel prick on filter paper and analyzed for TSH
    TSH >20mU/L ,blood sample is obtained and analyzed
    Start treatment immediately
    EVALUATION OF CONGENITAL
    HYPOTHYROIDISM
    Imaging:
    Thyroid scanning
    Shows normal Functioning thyroid tissue
    TREATMENT OF CONGENITAL
    HYPOTHYROIDISM
    L-thyroxine for life
    Started 2-3 weeks of age to decrease the risk of MR
    Dose Neonates 10-15 micrograms/kg/day
    Children 100microgram/m²/day

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