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Some aspects of pediatric endocrinology

Some aspects of pediatric endocrinology. Sallai Ágnes MD, Ph.D. Parathyroid gland. GhRH GnRH TRH CRH ADH. GH FSH, LH TSH ACTH PRL. SHORT STATURE. 15% organic diseases 2% skeletal dysplasia 1% Turner syndrome 1% hypothyroidism 1% GHD. 80% FSS PSD.

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Some aspects of pediatric endocrinology

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  1. Some aspects of pediatric endocrinology Sallai Ágnes MD, Ph.D.

  2. Parathyroid gland

  3. GhRH GnRH TRH CRH ADH GH FSH, LH TSH ACTH PRL

  4. SHORT STATURE 15% organic diseases 2% skeletal dysplasia 1% Turner syndrome 1% hypothyroidism 1% GHD 80% FSS PSD

  5. GrowthhormonedeficiencyGHD • micropenis, hypoglycaemia in newborns • delay in dentation • progressive growth delay • bone age retardation • low IGF-1 level • low growth hormone peaks in GH stimulation test

  6. Causes of GHD 1.

  7. Diabetes insipidus • ADH defficiency • polyuria, polidipsia • enuresis • fever in infancy • hypernatraemia, low urine osmolarity

  8. Parathyroid gland thyroxine, trijodthyronine

  9. Patology of thethyroidglandHypothyroidism I. Congenital hypothyroidism 1/4000 live birth floppy infant, thick, protruding tongue, poor feeding, constipation, prolonged jaundice

  10. Patology of thethyroidglandHypothyroidism II. Congenital hypothyroidism Newborn mass screening TSH  Dry spot TSH > 30 mU/l L-thyroxine supplementation

  11. Patology of thethyroidglandHypothyroidism III. Hashimoto thyreoiditis goiter Autoantibody positivity Inhomogen ultrasound structure Lympocytic infiltration in histology fatigue, constipation, short stature TSH:, fT4: L-thyroxine supplementation

  12. Hashimotothyreoiditis

  13. Patology of thethyroidglandHyperthyroidism Graves disease exophtalmus tachycardia, weight loss, diarrhoea TSI  TSH, fT4, fT3: Treatment: 1. methimazole, (propranolol), 2. surgery, radioactive iodine

  14. Gravesdisease

  15. Patology of thethyroidglandThyroidnodules • Frequency: 0,05-1,8% • TSH, fT4, antibodies > 1 cm – FNAB – cytology • 50 % solitary nodule • 25-30 % malignant - 90% papillary – follicular - 5% medullary carcinoma

  16. Parathyroid gland PTH

  17. Pathology of theparathyroidgland Hypoparathyroidism se Ca, seizure, osteoporosis Hyperparathyroidism – adenoma, hyperplasia se Ca, vomiting, constipation, weakness, lethargy, polyuria, pancratitis, nephrolithiasis, renal insufficiency

  18. Parathyroid gland glucocorticoids: cortisol mineralocorticoids: aldosterone androgens: androstendione

  19. CH3 C O O CH2OH CH2OH CH2OH CH2OH C C C C O O O O O O O O CH2OH C O Koleszterin CH3 CH3 O C C O O OH 17 HO HO dehidroepiandroszteron HO Pregnenolon 17a-OH-pregnenolon CH3 O C O OH O O 17a-OH-progeszteron Progeszteron androstendione OH 11-dezoxikortikoszteron 11-dezoxikortizol HO HO OH Kortikoszteron cortisol OCH HO O aldosterone Steroidhormonebiosynthesis P450c21

  20. Congenitaladrenalhyperplasia • 95% 21-OH deficiency • ¾ saltwaistingform - ingirls - ambigousgenitalia - earlypubichair + pubertyinboys

  21. CAH - ambigousgenitalia

  22. CAH • exscessivegrowth • earlyappearence • of pubichair • penileenlargement • small testes

  23. Parathyroid gland testosterone

  24. Klinefeltersy: 47,XXY 1:500-1000 inmales delayedpuberty gynecomastia mentalretardation (mild)

  25. Parathyroid gland estrogen progesterone

  26. Turner syndrome • 1/2500 girls/year • Lymphoedema of the hands and/or feet • Pterygium colli, short stature, facial dysmorphy • Coarctation of the aorta, renal malformation • Sexual infantilism (streak gonads) • Karyotype: 45,X

  27. Turner syndrome

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