1. Symptomatology of
Endocrinology
Dr. Pınar Kadıoğlu

2. Disorders of Endocrine System
• Hypofunction
• Hyperfunction
• Defects in sensitivity to hormones
• Syndromes of hormone excess due to
administration of exogenous hormone or
medication

3. Hypofunction
• Destruction of the gland
• Extraglandular disorders
• Specific defects in hormone
biosynthesis

8. Hypofunction
• Destruction of the gland
• Extraglandular disorders
• Specific defects in hormone
biosynthesis

9. Hypofunction
Extraglandular Disorders
• Renal disease
– 25 (OH)D3 1,25 (OH)2D3
• Damage of the renin-producing
juxtaglomerular cells
– Hyporeninemic hypoaldosteronism
• Damage to erythropoietin-producing
cells
– Anemia

10. Hypofunction
Extraglandular Disorders
• Congenital 5 α-reductase deficiency
– Partial androgen deficiency
• Factors that influnce hormone
degradation and sensitivity
– Glucocorticoid Insulin
– Thyroid hormones Glucocorticoids

12. Hypofunction
Specific Defects in Hormone
Biosynthesis
• Congenital defect in hormone synthesis
– Congenital adrenal hyperplasia
– Congenital defects of thyroid
• Mutations of genes encoding polypeptide
hormones
– GH
– GH receptor
– Pit-1
– MODY

16. Disorders of Endocrine
System
• Hypofunction
• Hyperfunction
• Defects in sensitivity to hormones
• Syndromes of hormone excess due to
administration of exogenous hormone or
medication

17. Hyperfunction
*Ectopic production
Gland Prohormone *Iatrogenic
Tumor Hormone Degraded
Hyperplasia Block
Receptor
Stimulation
Effector
Tissue damage
Response

18. Hyperfunction
• Tumors
• Hyperplasia
• Autoimmune stimulation

20. Disorders of Endocrine
System
• Hypofunction
• Hyperfunction
• Defects in sensitivity to hormones
• Syndromes of hormone excess due to
administration of exogenous hormone or
medication

21. Defects in Sensitivity to
Hormones
• Resistance to the hormone
– In the receptors
– Functions distal to the receptor
– Influnces extrinsic to the receptor-response
pathway

23. Resistance Due to
Postreceptor Defects
• Pseudohyperparathyroidism
• Metabolic syndrome
• NIDDM

24. History Taking in Endocrine Diseases
• Tecniques of Examination
– General endocrine assesement
– Thyroid
– Gonads
– Pituitary, adrenal, pancreatic islets,
parathyroid glands

25. General Endocrine Assessment
• Overall appearance
• General techiques
• Habitus
• Skeletal proportions
• Body weight
• Special consideration

26. Overall Appearance
• Appropiateness of appearance for age
and sex
• Growth and maturation
• Vital signs: blood pressure, pulse,
respiration, temperature

27. General techniques
• Inspection
– Note size and configuration of the following:
• Skull, facial and jaw bones, facies, prearicular and
supraclavicular areas, scalp, ears, nose, lips, tongue,
teeth
– Skin:
• Color
• Pigmentation
• Texture and thickness
• Hair
• Distribution of subcutaneous fat
• Secondary sex characteristics
– Eyes
– Genitalia and breasts

33. General techniques
• Palpation
– Thickening or thinning of the skin.
– Muscle size
– Thyroid

34. Skeletal Proportions
• Span of fingertip to
fingertip
• Lower skeletal
segment- floor to top of
symphysis pubis
• Upper skeletal
segment- height minus
lower sgment
• Body ratio- upper/ lower
skeletal segment
• Normal: Span= height
• Body ratio is 1.0 after
age 10

35. Body weight
• Body mass index: weight (kg)/ height2 (m2)
• Waist/hip ratio

36. Physical examination
• Thyroid
• Gonads
• Pituitary, adrenal, pancreas, parathyroid

37. Gonads
• Male:
– External genitalia
– Secondary sex characterisics
• Female
– External genitalia
– Adult breast development
– Habitus

38. Assessment of adrenal function
• Blood pressure, pulse
• Skin pigmentation and color
• Weight
• Presence of body hair
• Distribution of body fat

42. Assessment of pituitary function
• Assessed by addressing individual target
gland function
– Adrenal cortex
– Thyroid
– Gonad
• Assesment of growth parameters
• Visual field assessment

45. Assessment of parathyroid
function
• Musculoskeletal irritability (Chvosteck/
Trousseau’s sign)
• Mental status
• Hydration