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SYMPTOMATOLOGY AND
INVESTIGATION OF ENDOCRINE
DISORDERS
DR RAIMI T.H.
Endocrine symptoms
• Polyuria
• Thirst
• Weight loss despite normal or increased appetite
• Weight gain
• Excessive hair growth (hirsuitism)
• Hair loss (alopecia)
• Increased pigmentation
• Irregular/ Abnormal menses
• Erectile dysfunction
Polyuria
Passage of large volume of urine.. ≥3L/24hrs
May be associated with nocturia
 increased osmotically active substances
 lack of or impaired action of vasopressin
Diabetes mellitus
Diabetes insipidus
Hypercalcaemia
Polydipsia (excessive thirst)
Increased water/ fluid intake
 decreased blood volume (hypovolaemia)
 increased serum osmolality
 Diabetes mellitus
Diabetes insipidus
Hypercalcaemia
Haemorrhage
Gastroenteritis
Weight loss
Loosening of clothes, belt line, wrist-watches etc
 Caloric loss exceeds caloric intake
 Thyrotoxicosis
Diabetes mellitus
Addison's disease
Malignancies
Weight loss
Weight gain
Tightening of clothing, foot-wares, etc
 Caloric intake exceeds caloric loss
 Hypothyroidism
 Cushing’s syndrome
 Simple obesity
Weight gain
Weight gain
Simple Obesity
Cushing’s syndrome
Cushing’s syndrome
Cushing’s syndrome
Erectile dysfunction
 Poor erection, retrograde ejaculation
 Neuropathies ( peripheral, autonomic)
 Vascular disease
 Psychogenic
 Hypogonadism
 Diabetes mellitus
 Spinal cord disease e.g. multiple sclerosis
 Hypopituitarism
 Depression
 Drugs e.g. beta blockers
Irregular/Abnormal menses
Amenorrhoea 1° and 2°
Oligomenorrhoea
Menorrhagia
 Pathophysiology
Endocrine Control of
the Ovarian Cycle
Irregular/Abnormal menses
Outflow tract : AIS
Mullerian agenesis
Asherman’s syndrome
 Disorders of ovulation
Turner’s syndrome
Ovarian failure
Pituitary disease e.g tumours
Hypothalamic amenorrhoea e.g
stress, exercise
Hirsuitism
Excessive male pattern hair growth in women
 Generally due to excess androgens
 Genetic and ethnic background
 Androgen secreting ovarian tumours
 Congenital adrenal hyperplasia
 Cushing’s syndrome
 Cushing’s disease
Hirsuitism
Hirsuitism
Hirsuitism
(Alopecia) hair loss
 May be eyebrow hair, male pattern baldness, secondary sexual
body hair, well circumscribed patches
 Reduced androgens
 Excess androgen (women)
 Autoimmune process
 Hypothyroidism (eyebrow)
 Male hypogonadism
 Addison’s disease (autoimmune)
 Cushing's syndrome and Cushing's disease (male pattern baldness)
 Androgen secreting (virilising) tumours (male pattern baldness)
(Alopecia) hair loss
Increased pigmentation
• Generalized
• May be prominent in some sites
 Increased melanin (stimulation of MSH receptor
on melanocytes)
 Increased melanocytes
 Addison’s disease
 Cushing’s syndrome
 Haemochromatosis
Addison’s disease
??????????
Addison’s disease
INVESTIGATIONS
• Suspicion- hx and exam
• Screening tests - lab assay
• Specific or confirmatory- dynamic or adynamic
• Surgical and needle biopsy
• Scanning and neuroimaging- USS
Suspicion (clinical)- hx and exam
• Many endocrine glands sandwiched in other
systems
• Endocrinology interfaces with numerous
physiologic systems--- non- specific symptoms
• Classic symptoms in some (eg T1DM or T2DM)
• Gradual evolution or changes over months to
years----hypothyroidism, acromegaly
• Symptoms overlap a great range of normal
characteristics eg obese person vs Cushing’s
syndrome
Suspicion (clinical)- hx and exam contd.
• Seldom produces symptoms near gland of
origin (except thyroiditis, large pituitary
tumours)
• Hormones have more distant effect than local
(unlike pneumonia)
• Asymptomatic patients common (T2DM)
• Symptoms usually due to glandular hypo- or
hyper- function
T4
T3
Hypothalamic-Pituitary-Thyroid Axis
Physiology/Regulation
Pituitary
Thyroid Gland
Hypothalamus TRH
T4  T3
Liver
T4 T3
Heart
Liver
Bone
CNS
TR
Target Tissues
–
–
TSH
Screening tests – lab assay
• Sometimes confirm the disease
• Measure the hormones produced by the gland
e.g plasma T3 & T4, cortisol, testosterone (↓ or
↑)
• May be time-dependent e.g mid- night cortisol
(Cushing's syndrome), morning [8:00-9:00am]
cortisol (Addison’s disease) , 24hr urinary cortisol
(Cushing's syndrome) fasting plasma glucose
(diabetes mellitus)
Screening tests – lab assay contd.
• Hormones can be assayed in the urine or
saliva e.g cortisol
• Measure the effect of the hormone e.g plasma
glucose in diabetes mellitus (deficient insulin)
• Measure the trophic hormone alone e.g TSH,
or trophic hormone and gland product e.g TSH
and T4, ACTH and cortisol
Specific or confirmatory- dynamic or
adynamic
• Adynamic
o Measure the autoantibodies
-stimulating e.g TSH receptor antibodies
- blocking e.g TSH receptor antibodies
- destructive e.g islet cell, adrenal, thyroid
peroxidase
Specific or confirmatory- dynamic or
adynamic
• Dynamic- based on principle of feedback
mechanisms
o Stimulate the gland if there is hypofunction
(hormone deficiency) e.g ACTH stimulation in
Addison’s disease
o Suppress the gland if there is hyperfunction
(hormone excess) e.g dexamethasone
suppression in Cushing’s syndrome
Regulation of cortisol:
The HPA axis
+
+
-
-
Neural Stimuli
Hypothalamus
Anterior
Pituitary
Adrenal
CC:BY 3.0
BY: Regents of the University of
Michigan
ACTH
ACTH Plasma Cortisol
Concentration
CRF
Scanning and Radiological imaging
• Generally employed only after a hormonal
abnormality has been established by
biochemical testing
-Ultrasound e.g thyroid, testicular
-CT scan e.g adrenal, pituitary
-MRI e.g pituitary
-Radio-isotope scan e.g thyroid scan
THYROID ULTRASOUND SCAN
Surgical and Needle biopsy
• To diagnose cancers e.g FNAC of the thyroid
• All surgical specimens to be submitted for
pathological diagnosis

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SYMPTOMATOLOGY AND INVESTIGATION OF ENDOCRINE DISORDERS.pdf

  • 1. SYMPTOMATOLOGY AND INVESTIGATION OF ENDOCRINE DISORDERS DR RAIMI T.H.
  • 2. Endocrine symptoms • Polyuria • Thirst • Weight loss despite normal or increased appetite • Weight gain • Excessive hair growth (hirsuitism) • Hair loss (alopecia) • Increased pigmentation • Irregular/ Abnormal menses • Erectile dysfunction
  • 3. Polyuria Passage of large volume of urine.. ≥3L/24hrs May be associated with nocturia  increased osmotically active substances  lack of or impaired action of vasopressin Diabetes mellitus Diabetes insipidus Hypercalcaemia
  • 4. Polydipsia (excessive thirst) Increased water/ fluid intake  decreased blood volume (hypovolaemia)  increased serum osmolality  Diabetes mellitus Diabetes insipidus Hypercalcaemia Haemorrhage Gastroenteritis
  • 5. Weight loss Loosening of clothes, belt line, wrist-watches etc  Caloric loss exceeds caloric intake  Thyrotoxicosis Diabetes mellitus Addison's disease Malignancies
  • 7. Weight gain Tightening of clothing, foot-wares, etc  Caloric intake exceeds caloric loss  Hypothyroidism  Cushing’s syndrome  Simple obesity
  • 14. Erectile dysfunction  Poor erection, retrograde ejaculation  Neuropathies ( peripheral, autonomic)  Vascular disease  Psychogenic  Hypogonadism  Diabetes mellitus  Spinal cord disease e.g. multiple sclerosis  Hypopituitarism  Depression  Drugs e.g. beta blockers
  • 15. Irregular/Abnormal menses Amenorrhoea 1° and 2° Oligomenorrhoea Menorrhagia  Pathophysiology
  • 16. Endocrine Control of the Ovarian Cycle
  • 17. Irregular/Abnormal menses Outflow tract : AIS Mullerian agenesis Asherman’s syndrome  Disorders of ovulation Turner’s syndrome Ovarian failure Pituitary disease e.g tumours Hypothalamic amenorrhoea e.g stress, exercise
  • 18. Hirsuitism Excessive male pattern hair growth in women  Generally due to excess androgens  Genetic and ethnic background  Androgen secreting ovarian tumours  Congenital adrenal hyperplasia  Cushing’s syndrome  Cushing’s disease
  • 22. (Alopecia) hair loss  May be eyebrow hair, male pattern baldness, secondary sexual body hair, well circumscribed patches  Reduced androgens  Excess androgen (women)  Autoimmune process  Hypothyroidism (eyebrow)  Male hypogonadism  Addison’s disease (autoimmune)  Cushing's syndrome and Cushing's disease (male pattern baldness)  Androgen secreting (virilising) tumours (male pattern baldness)
  • 24. Increased pigmentation • Generalized • May be prominent in some sites  Increased melanin (stimulation of MSH receptor on melanocytes)  Increased melanocytes  Addison’s disease  Cushing’s syndrome  Haemochromatosis
  • 28. INVESTIGATIONS • Suspicion- hx and exam • Screening tests - lab assay • Specific or confirmatory- dynamic or adynamic • Surgical and needle biopsy • Scanning and neuroimaging- USS
  • 29. Suspicion (clinical)- hx and exam • Many endocrine glands sandwiched in other systems • Endocrinology interfaces with numerous physiologic systems--- non- specific symptoms • Classic symptoms in some (eg T1DM or T2DM) • Gradual evolution or changes over months to years----hypothyroidism, acromegaly • Symptoms overlap a great range of normal characteristics eg obese person vs Cushing’s syndrome
  • 30. Suspicion (clinical)- hx and exam contd. • Seldom produces symptoms near gland of origin (except thyroiditis, large pituitary tumours) • Hormones have more distant effect than local (unlike pneumonia) • Asymptomatic patients common (T2DM) • Symptoms usually due to glandular hypo- or hyper- function
  • 31. T4 T3 Hypothalamic-Pituitary-Thyroid Axis Physiology/Regulation Pituitary Thyroid Gland Hypothalamus TRH T4  T3 Liver T4 T3 Heart Liver Bone CNS TR Target Tissues – – TSH
  • 32. Screening tests – lab assay • Sometimes confirm the disease • Measure the hormones produced by the gland e.g plasma T3 & T4, cortisol, testosterone (↓ or ↑) • May be time-dependent e.g mid- night cortisol (Cushing's syndrome), morning [8:00-9:00am] cortisol (Addison’s disease) , 24hr urinary cortisol (Cushing's syndrome) fasting plasma glucose (diabetes mellitus)
  • 33. Screening tests – lab assay contd. • Hormones can be assayed in the urine or saliva e.g cortisol • Measure the effect of the hormone e.g plasma glucose in diabetes mellitus (deficient insulin) • Measure the trophic hormone alone e.g TSH, or trophic hormone and gland product e.g TSH and T4, ACTH and cortisol
  • 34. Specific or confirmatory- dynamic or adynamic • Adynamic o Measure the autoantibodies -stimulating e.g TSH receptor antibodies - blocking e.g TSH receptor antibodies - destructive e.g islet cell, adrenal, thyroid peroxidase
  • 35. Specific or confirmatory- dynamic or adynamic • Dynamic- based on principle of feedback mechanisms o Stimulate the gland if there is hypofunction (hormone deficiency) e.g ACTH stimulation in Addison’s disease o Suppress the gland if there is hyperfunction (hormone excess) e.g dexamethasone suppression in Cushing’s syndrome
  • 36. Regulation of cortisol: The HPA axis + + - - Neural Stimuli Hypothalamus Anterior Pituitary Adrenal CC:BY 3.0 BY: Regents of the University of Michigan ACTH ACTH Plasma Cortisol Concentration CRF
  • 37. Scanning and Radiological imaging • Generally employed only after a hormonal abnormality has been established by biochemical testing -Ultrasound e.g thyroid, testicular -CT scan e.g adrenal, pituitary -MRI e.g pituitary -Radio-isotope scan e.g thyroid scan
  • 39. Surgical and Needle biopsy • To diagnose cancers e.g FNAC of the thyroid • All surgical specimens to be submitted for pathological diagnosis