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Clinical Cases (Barcelona)

Clinical Cases (Barcelona). Two brothers (5 and 7 years old) of Pakistani ethnicity were referred to the Endocrinology Unit because of short stature. Relevant Family & Personal History. Parental consanguinity Midparental height 174 cm One normal statured older sister

sebastian-camacho
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Clinical Cases (Barcelona)

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  1. Clinical Cases (Barcelona) • Two brothers (5 and 7 years old) of Pakistani ethnicity were referred to the Endocrinology Unit because of short stature

  2. Relevant Family & Personal History • Parental consanguinity • Midparental height 174 cm • One normal statured older sister • Unknown birth and length data • Recurrent episodes of vomiting since infancy • Height and growth velocity always “below normal”

  3. Family Tree Father 178 cm Mother 160 cm Akmal 5 yr Mohamad 7 yr Zoghah † age 8 yr (pneumonia?) Fatima 11 yr, 159 cm

  4. Akmal &Mohamad • Protruding forehead, saddlenose • Dysmorphic ears, acromicria • High-pitched voice, defective teeth • Excess abdominal fat • Small testicles ( 1cc) • Normal psychomotor development

  5. 200 200 cm 190 190 97 HEIGHT 90 180 180 75 50 170 170 25 10 160 160 3 150 150 140 140 130 130 120 120 110 110 100 100 90 90 97 80 80 90 70 70 75 50 60 60 25 WEIGHT 10 50 50 3 40 40 30 30 20 20 kg 10 10 0 0 17 17 18 18 14 14 15 15 16 16 3 3 4 4 5 5 6 6 9 9 10 10 11 11 12 12 13 13 0 0 1 1 2 2 7 7 8 8 Age (y) Mohamad • Height: 98 cm (-4.5 SDS) • Weight: 16.6 kg (-3.0 SDS) • Bone age: 6 years

  6. 200 200 190 190 180 180 170 170 160 160 150 150 140 140 130 130 120 120 110 110 100 100 90 90 80 80 70 70 60 60 50 50 40 40 30 30 20 20 10 10 0 0 17 17 18 18 14 14 15 15 16 16 3 3 4 4 5 5 6 6 9 9 10 10 11 11 12 12 13 13 0 0 1 1 2 2 7 7 8 8 cm 97 HEIGHT 90 75 Akmal 50 25 10 3 • Height: 95.3 cm (-3.9 SDS) • Weight: 20.4 Kg (+1.0 SDS) • Bone age: 4 years 97 90 75 50 25 WEIGHT 10 3 Kg Age (y)

  7. Laboratory Tests Normal values: IGF-I; age 2-6 yr: 80-234 ng/mL; age 7 yr: 152-310 ng/mL; BP-3; 3-5 yr: 1.0-4.9 mg/dL; >5-7 yr: 1.2-5.8 mg/dL. * 35 g/Kg/d x 7 days § L-dopa test

  8. GHR: Pseudoexon 6 Normal #69 and #70 Parents & Sister A Cryptic 5’ in intron 6 No cryptic 5’ in intron 6 Heterozygous cryptic 5’ in intron 6 Cryptic 5’ Cryptic 3’ Exon 6 Exon 7 0.6 kb TGgt CGgt agAT agCC Exon 6 Exon 7 36 aa

  9. Treatment rIGF-I (Increlex) 0 3 6 8 12 mo 0.05* 0.06* 0.07* 0.07* 0.04* * mg/Kg/12 h

  10. 200 200 190 190 180 180 170 170 160 160 150 150 140 140 130 130 120 120 110 110 100 100 90 90 80 80 70 70 60 60 50 50 40 40 30 30 20 20 10 10 0 0 17 17 18 18 14 14 15 15 16 16 3 3 4 4 5 5 6 6 9 9 10 10 11 11 12 12 13 13 0 0 1 1 2 2 7 7 8 8 cm 97 HEIGHT 90 75 50 Mohamad 25 10 3 • rIGF-I start at 9 yr (March 2008) • One year after (March 2009) • - Height: 117.4 cm (-3.2 SDS) • - Weight: 24.1 kg (-1.8 SDS) • - Height velocity: 10.4 cm/y • - Bone age: 8.0 years rIGF-I 97 90 75 50 25 WEIGHT 10 3 kg Age (y)

  11. 200 200 190 190 180 180 170 170 160 160 150 150 140 140 130 130 120 120 110 110 100 100 90 90 80 80 70 70 60 60 50 50 40 40 30 30 20 20 10 10 0 0 17 17 18 18 14 14 15 15 16 16 3 3 4 4 5 5 6 6 9 9 10 10 11 11 12 12 13 13 0 0 1 1 2 2 7 7 8 8 cm 97 HEIGHT 90 75 50 25 Akmal 10 3 • rIGF-I start at 6 yr (March 2008) • One year after (March 2009) • - Height: 116.3 cm (-1.6 SDS) • - Weight: 34.8 kg (+3.0 SDS) • - Height velocity: 9.3 cm/y • - Bone age: 8.0 years rIGF-I 97 90 75 50 25 WEIGHT 10 3 kg Age (y)

  12. Comments & Side Effects (I) • Excellent compliance • No documented hypoglycemias • No local site reactions • Normal echocardiogram • Adenoidal hypertrophy (both, needing surgery) • Tonsillar hyperthrophy (Mohamad) • Main complaint: twice-a-day injection

  13. Comments & Side Effects (II) • February 2009 (Mohamad) • High fever • Decreased consciousness, motor deficits • CSF: normal • MRI: focal cortical parenchymal hyperintensity • April 2009 • Full recovery • Immune assessment pending

  14. Third sibling (Bibi) • Birth weight: 2,7 Kg (-0.8 SDS) • Birth length: 44.5 cm (-2.0 SDS) • Gestational age: 38 w • Growth below 3rd centile

  15. At age 26 mo: • Ht: 75 cm (-4.3 SDS) • Wt: 8.2 Kg (-3.0 SDS) • Protruding forehead • Saddle nose • Dysmorphic ears • Excess abdominal fat

  16. Laboratory Tests Normal values: IGF-I: >55 ng/mL; BP-3: 0.8-4.1 mg/dL § Glucagon test

  17. Molecular Analysis Pseudoexon (6 ) Mutation in Homozygosis Will start on rIGF-I

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