Symptomatology of Endocrinology

Dr. Pınar Kadıoğlu

Disorders of Endocrine System

• Hypofunction

• Hyperfunction

• Defects in sensitivity to hormones

• Syndromes of hormone excess due to administration of exogenous hormone or medication

Hypofunction

• Destruction of the gland

• Extraglandular disorders

• Specific defects in hormone biosynthesis

Hypofunction• Destruction of the gland

• Extraglandular disorders

• Specific defects in hormone biosynthesis

HypofunctionExtraglandular 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

HypofunctionExtraglandular Disorders

• Congenital 5 -reductase deficiency– Partial androgen deficiency

• Factors that influnce hormone degradation and sensitivity– Glucocorticoid Insulin– Thyroid hormones Glucocorticoids

HypofunctionSpecific 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

Disorders of Endocrine System

• Hypofunction

• Hyperfunction

• Defects in sensitivity to hormones

• Syndromes of hormone excess due to administration of exogenous hormone or medication

Hyperfunction

Gland Prohormone

Hormone

Receptor

Effector

Response

TumorHyperplasia

Degraded

*Ectopic production*Iatrogenic

Block

Stimulation

Tissue damage

Hyperfunction• Tumors

• Hyperplasia

• Autoimmune stimulation

Disorders of Endocrine System

• Hypofunction

• Hyperfunction

• Defects in sensitivity to hormones

• Syndromes of hormone excess due to administration of exogenous hormone or medication

Defects in Sensitivity to Hormones

• Resistance to the hormone– In the receptors– Functions distal to the receptor– Influnces extrinsic to the receptor-response

pathway

Resistance Due to Postreceptor Defects

• Pseudohyperparathyroidism• Metabolic syndrome • NIDDM

History Taking in Endocrine Diseases

• Tecniques of Examination– General endocrine assesement– Thyroid– Gonads– Pituitary, adrenal, pancreatic islets,

parathyroid glands

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

Overall Appearance

• Appropiateness of appearance for age and sex

• Growth and maturation

• Vital signs: blood pressure, pulse, respiration, temperature

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

General techniques

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

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

Body weight

• Body mass index: weight (kg)/ height2 (m2)

• Waist/hip ratio

Physical examination

• Thyroid

• Gonads

• Pituitary, adrenal, pancreas, parathyroid

Gonads

• Male:– External genitalia– Secondary sex characterisics

• Female– External genitalia– Adult breast development – Habitus

Assessment of adrenal function

• Blood pressure, pulse• Skin pigmentation and color• Weight• Presence of body hair• Distribution of body fat

Assessment of pituitary function

• Assessed by addressing individual target gland function– Adrenal cortex– Thyroid– Gonad

• Assesment of growth parameters• Visual field assessment

Assessment of parathyroid function

• Musculoskeletal irritability (Chvosteck/ Trousseau’s sign)

• Mental status• Hydration