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Paediatric Endocrinology for Adult Endocrinologists: an introduction Paul Ward Consultant Paediatrician
Endocrinology & age ,[object Object],[object Object],[object Object],[object Object]
Perinatal endocrinology ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Paediatric endocrinology ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Adolescent endocrinology ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
What do I see in the paediatric growth & endocrinology clinic?
Common ,[object Object],[object Object],[object Object],[object Object]
Less common ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Uncommon  ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Rocking horse t…s ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
What’s becoming more common? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
GROWTH
Measuring standing height: note no shoes or socks! Head held in Frankfurt plane. Feet, back and back of head touching the footplate or back plate. Harpenden stadiometer
Measuring supine length when not possible to measure standing height e.g. babies, disabled children
Measuring sitting height using Harpenden sitting height stadiometer. Sitting height may be useful in diagnosing disproportionate short stature.
 
Dealing with growth data ,[object Object],[object Object],[object Object],[object Object],[object Object]
Example ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Plot child’s height
Calculate & plot mean parental height & target centile range: Boys: (Mother’s height plus fathers height)/2  plus  7, +/- 10 cms. Girls: (Mothers height plus fathers height)/2  minus  7, +/- 8.5 cms
Plot serial heights. Analyse chart.
 
Exercise: Case 1 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Plot & analyse the growth curve.
Exercise: Case 2 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Plot & analyse the growth chart.
Exercise: Case 3 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Plot and analyse the growth chart
Exercise: Case 4 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Plot and analyse the growth chart
“ Tempo of Growth” A B A B
Clinical Indicators of Maturity ,[object Object],[object Object],[object Object],[object Object]
Concept of skeletal maturity ,[object Object],[object Object],[object Object],[object Object]
Bone age ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Tanner & Whitehouse TW2  RUS ,[object Object],[object Object],[object Object],[object Object]
Delayed skeletal maturity ,[object Object],[object Object],[object Object],[object Object]
Advanced skeletal maturity ,[object Object],[object Object],[object Object],[object Object]
Clinical Applications of Bone Age ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Relatively short, falling through centiles in late childhood / early adolescence, delayed bone age, predicted height consistent with family TCR. Constitutional delay of growth & adolescence.
 
Clinical case ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Plot data. What are you thinking about at this stage?
Examination ,[object Object],[object Object],[object Object],[object Object],[object Object],Age 3 ½
Previous investigations ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Additional Investigations ,[object Object],[object Object],[object Object],[object Object],[object Object]
Clonidine & TRH stimulation test
Diagnosis?
Diagnosis ,[object Object],[object Object]
Treatment ,[object Object],[object Object],Age 4 ½, one year after starting GH
Growth hormone deficiency, response to treatment
 
Timing of puberty ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Sequence of pubertal events in girls
Sequence of pubertal events in boys
Tanner stages of pubic hair development at puberty
Tanner stages of genital development at puberty
Prader orchidometer for measuring testicular volume
Tanner stages of breast development at puberty
Abnormalities of puberty ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Precocious sexual development (1) ,[object Object],[object Object],[object Object]
Precocious sexual development (2) ,[object Object],[object Object],[object Object]
Sexual precocity: RHSC Glasgow  1989 - 1999 15 prem menarche 31 thelarche variant 45 thelarche 18 79 exagerated adrenarche 5 4 GIDPPP 7 18 secondary 1 66 idiopathic GDPP: Boys Girls
Aetiology of GDPP RHSC Glasgow 1989-99 4 0 “ priming” 3 8 Neurological disorder 4 7 Tumour 0 4 Cranial irradiation 1 66 Idiopathic Boys Girls
Molly (1) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Molly (2) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Molly (3)
Helen (1): ,[object Object],[object Object],[object Object],[object Object]
Helen (2) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Helen (3) ,[object Object],[object Object],[object Object],[object Object],[object Object]
Helen (4) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
 
Helen (5) ,[object Object],[object Object],[object Object],DIAGNOSIS: Gonadotropin-dependent central precocious puberty
Helen (6) ,[object Object],[object Object],[object Object]
 
Helen (7) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Helen: growth chart
Delayed puberty & pubertal failure ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Pubertal failure: central (1) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Pubertal failure: central (2)
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Pubertal failure: peripheral (1)
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Pubertal failure: peripheral (2)
Scott (1) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],Scott (2)
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Scott (3)
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Scott (4)
Congenital Hypothyroidism ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Consequences of Late Diagnosis: In a series of 651 babies mean IQ was 76% Age at Diagnosis % with IQ > 85 < 3 months 78 % 3 - 6 months 19 % > 7 months   0 %
Additional Neurological Problems: Spasticity Gait disorders Incoordination Awkwardness Tremor & jerky movements Cerebellar ataxia & nystagmus Sensorineural hearing loss
Congenital Hypothyroidism : “textbook” appearances
Pre-screening  ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
But …not all babies with congenital hypothyroidism look abnormal!
10 % detected within first 4 months of life 35 % detected within  3 months of birth 70 % detected within first year 100 % detected within 3 to 4 years Clinical Detection Rate before universal screening
Neonatal Screening Filter paper blood spots collected on day 7 Sample analysed for TSH concentration Infants with whole blood TSH > 20 - 30 mU/l notified to G.P. & designated paediatrician. Infant seen, serum sample collected, treatment commenced.
Treatment ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
A.B. Female . Born 26/2/94 Day 1  - Normal birth, birth weight 3.14 kgs @ 38 weeks gestation. Neonatal examination normal Day 7  - Neonatal Biochemical Screening Test: Day 12  - Whole Blood TSH 250 mU/l, result notified to G.P. & PSW. Day 13  - Seen in Children’s Day Bed Unit: Quiet baby, fading jaundice, dry skin. Serum sample taken. Thyroxine 25 mcg o.d prescribed
Initial Results :  Total thyroxine  40 nmol/l  (n. 60 - 160) T.S.H.  290 mIU/l  (n. 0.17 - 2.9) Diagnosis of congenital hypothyroidism confirmed
Progress: 25/4/94 D.N.A. 23/5/94 Total thyroxine 90 nmol/l TSH 29.2 mIU/l L-Thyroxine to 50 mcg o.d 1/8/94 Total thyroxine 114 nmol/l TSH 0.16 mIU/l
7/11/94 Well, growing normally Free Thyroxine 6.0 pmol/l  (n. 11.7-28) TSH 94.2 mU/l Results suggested insufficient dose. L-thyroxine increased to 75 mcg o.d Dose equivalent to 180 mcg/m 2 .day
Reference Ranges: Free T4 11.7-28 pmol/l   TSH  0.17-2.9 mU/l
October 1995 District Nurses visited daily to administer l-thyroxine 75 mcgs od. Free Thyroxine  41.4 pmol/l TSH    0.7 mU/l Conclusion?
7/11/95  l-thyroxine reduced to 50 mcgs 28/11/95 Free T4  41.4 pmol/l TSH   7.2 mU/l 4/12/95 D.N.A. 22/1/96 Brought to clinic by father Free T4 44 pmol/l TSH 1.4 mU/l
29/4/96 D.N.A. 3/6/96 D.N.A. H.V. discovered that G.P. records showed no prescriptions had been collected since November 1995 Concerns discussed with Child Care Social Work Dept. & N.S.P.C.C. Child Protection Officer.
14/6/96 Free T4  21.9 pmol/l TSH 19.72 mU/l 24/6/96 Mother insists thyroxine being given regularly. July ‘96 Divorce proceedings. Request from mother’s solicitors for medical information.
Child accommodated with father: . 18/7/96 Free T4 19.1 pmol/l TSH   4.17 mU/l 3/10/96 Free T4 22.5 pmol/l TSH   0.03 mU/l Legal proceedings continue
 
Paediatric -v- Adult endocrinology ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

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Paediatric endocrinology for adult endocrinologists

  • 1. Paediatric Endocrinology for Adult Endocrinologists: an introduction Paul Ward Consultant Paediatrician
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  • 6. What do I see in the paediatric growth & endocrinology clinic?
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  • 13. Measuring standing height: note no shoes or socks! Head held in Frankfurt plane. Feet, back and back of head touching the footplate or back plate. Harpenden stadiometer
  • 14. Measuring supine length when not possible to measure standing height e.g. babies, disabled children
  • 15. Measuring sitting height using Harpenden sitting height stadiometer. Sitting height may be useful in diagnosing disproportionate short stature.
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  • 20. Calculate & plot mean parental height & target centile range: Boys: (Mother’s height plus fathers height)/2 plus 7, +/- 10 cms. Girls: (Mothers height plus fathers height)/2 minus 7, +/- 8.5 cms
  • 21. Plot serial heights. Analyse chart.
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  • 27. “ Tempo of Growth” A B A B
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  • 35. Relatively short, falling through centiles in late childhood / early adolescence, delayed bone age, predicted height consistent with family TCR. Constitutional delay of growth & adolescence.
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  • 41. Clonidine & TRH stimulation test
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  • 45. Growth hormone deficiency, response to treatment
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  • 48. Sequence of pubertal events in girls
  • 49. Sequence of pubertal events in boys
  • 50. Tanner stages of pubic hair development at puberty
  • 51. Tanner stages of genital development at puberty
  • 52. Prader orchidometer for measuring testicular volume
  • 53. Tanner stages of breast development at puberty
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  • 57. Sexual precocity: RHSC Glasgow 1989 - 1999 15 prem menarche 31 thelarche variant 45 thelarche 18 79 exagerated adrenarche 5 4 GIDPPP 7 18 secondary 1 66 idiopathic GDPP: Boys Girls
  • 58. Aetiology of GDPP RHSC Glasgow 1989-99 4 0 “ priming” 3 8 Neurological disorder 4 7 Tumour 0 4 Cranial irradiation 1 66 Idiopathic Boys Girls
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  • 82. Consequences of Late Diagnosis: In a series of 651 babies mean IQ was 76% Age at Diagnosis % with IQ > 85 < 3 months 78 % 3 - 6 months 19 % > 7 months 0 %
  • 83. Additional Neurological Problems: Spasticity Gait disorders Incoordination Awkwardness Tremor & jerky movements Cerebellar ataxia & nystagmus Sensorineural hearing loss
  • 84. Congenital Hypothyroidism : “textbook” appearances
  • 85.
  • 86. But …not all babies with congenital hypothyroidism look abnormal!
  • 87. 10 % detected within first 4 months of life 35 % detected within 3 months of birth 70 % detected within first year 100 % detected within 3 to 4 years Clinical Detection Rate before universal screening
  • 88. Neonatal Screening Filter paper blood spots collected on day 7 Sample analysed for TSH concentration Infants with whole blood TSH > 20 - 30 mU/l notified to G.P. & designated paediatrician. Infant seen, serum sample collected, treatment commenced.
  • 89.
  • 90. A.B. Female . Born 26/2/94 Day 1 - Normal birth, birth weight 3.14 kgs @ 38 weeks gestation. Neonatal examination normal Day 7 - Neonatal Biochemical Screening Test: Day 12 - Whole Blood TSH 250 mU/l, result notified to G.P. & PSW. Day 13 - Seen in Children’s Day Bed Unit: Quiet baby, fading jaundice, dry skin. Serum sample taken. Thyroxine 25 mcg o.d prescribed
  • 91. Initial Results : Total thyroxine 40 nmol/l (n. 60 - 160) T.S.H. 290 mIU/l (n. 0.17 - 2.9) Diagnosis of congenital hypothyroidism confirmed
  • 92. Progress: 25/4/94 D.N.A. 23/5/94 Total thyroxine 90 nmol/l TSH 29.2 mIU/l L-Thyroxine to 50 mcg o.d 1/8/94 Total thyroxine 114 nmol/l TSH 0.16 mIU/l
  • 93. 7/11/94 Well, growing normally Free Thyroxine 6.0 pmol/l (n. 11.7-28) TSH 94.2 mU/l Results suggested insufficient dose. L-thyroxine increased to 75 mcg o.d Dose equivalent to 180 mcg/m 2 .day
  • 94. Reference Ranges: Free T4 11.7-28 pmol/l TSH 0.17-2.9 mU/l
  • 95. October 1995 District Nurses visited daily to administer l-thyroxine 75 mcgs od. Free Thyroxine 41.4 pmol/l TSH 0.7 mU/l Conclusion?
  • 96. 7/11/95 l-thyroxine reduced to 50 mcgs 28/11/95 Free T4 41.4 pmol/l TSH 7.2 mU/l 4/12/95 D.N.A. 22/1/96 Brought to clinic by father Free T4 44 pmol/l TSH 1.4 mU/l
  • 97. 29/4/96 D.N.A. 3/6/96 D.N.A. H.V. discovered that G.P. records showed no prescriptions had been collected since November 1995 Concerns discussed with Child Care Social Work Dept. & N.S.P.C.C. Child Protection Officer.
  • 98. 14/6/96 Free T4 21.9 pmol/l TSH 19.72 mU/l 24/6/96 Mother insists thyroxine being given regularly. July ‘96 Divorce proceedings. Request from mother’s solicitors for medical information.
  • 99. Child accommodated with father: . 18/7/96 Free T4 19.1 pmol/l TSH 4.17 mU/l 3/10/96 Free T4 22.5 pmol/l TSH 0.03 mU/l Legal proceedings continue
  • 100.  
  • 101.