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Clinical examination of Endocrine system
- 1. CLINICAL EXAMINATION IN ENDOCRINOLOGY Prof . S. P. Chowdhury Rajat Kar & Tanmoy Mandal
- 2. General Survey • Facies • Build & Stature • Nutrition • Decubitus • Neck vein • Neck glands • Anemia • Cyanosis • Clubbing • Jaundice • Edema • Pulse • Respiration • Temperature • BP • Generalized skin & nail • Extremities
- 3. Facies • Hair • Eye • Ear • Mid facial structure • Lip • Dental alliance • Palate • Tongue
- 4. Hair Changes • Gonadal hyper-androgenism • PCOD • Ovarian neoplasm • Ovarian steroidogenic block • Adrenal hyper-androgenism – Premature adrenarche – Congenital adrenal hyperplasia – Functional adrenal hyperandrogenism – Abnormal cortisol metabolism – Adrenal neoplasm • Other endocrine disorder – Cushing’s syndrome – Hyperprolactinemia – Acromegaly • Drug – Androgens – OCPs – Minoxidil – Phenytoin – Diaxoide – Cyclosporine • Peripheral androgen overproduction – Obesity – Idiopathic Hirsutism Androgen dependent excessive male pattern hair growth(measured by Ferriman & Gallwey score. Total 36, score ≥ 8 hirsutism. Virilization A condition in which androgen levels are sufficiently high to cause additional sign & symptoms possibly due to ovarian or adrenal neoplasm
- 5. Hirsutism
- 6. Hair Changes
- 7. Alopecia
- 8. Eye Changes • Eye brow – Madarosis (Hypothyroidism) • Hypertelorism – Noonan syndrome – Turner syndrome – LEOPARD syndrome – Hurler syndrome – William syndrome – Klippel-Feil syndrome • Exophthalmos – Thyrotoxic exophthalmos – Hypothyroidism – Cushing’s syndrome – Pheochromocytoma • Sclera – Blue sclera • Cornea – Congenital cloudy cornea – Arcus senilis • Pupil – Pupilary abnormality
- 9. Eye Changes Hypertelorism Exophthalmos
- 10. N.O.S.P.E.C.S. • 0 = No sign & no symptoms • 1 = Only sign • 2 = Soft tissue involvement • 3 = Proptosis • 4 = Extra-ocular muscle invovement • 5 = Corneal ulceration • 6 = Sight loss Measured by Hurtle’s exophthalmometer
- 11. Ear Changes • Ear lobe crease – Hyperlipidemia • Low set ears – Noonan syndrome – Turner syndrome – Klippel-Feil syndrome – Down’s syndrome – Cornelia de Lange’s syndrome – Rubinstein’s-Taybi syndrome
- 12. Ear Changes
- 13. Mid Facial Structure • Broad flat nose – Down syndrome – William syndrome – Cornelia de Lange’s syndrome – Hurler syndrome • Broad nose – Acromegaly • Thin beaked nose – Rubinstein-Taybi syndrome
- 14. Mid Facial Structure William syndrome Hurler syndrome
- 15. Lip Changes • Thick lips – Hurler syndrome – Acromegaly – Myxedema – Cretinism • Absent philtrum • Rhagades
- 16. Dental Alliance • Delayed dentition – Cretinism – Rickets • Peg shaped teeth – Hurler syndrome – William’s syndrome – Hutchinson’s teeth • Widely spaced teeth – Acromegaly – Morquio’s syndrome – William’s syndrome
- 17. Tongue Changes • Macroglossia – Acromegaly – Myxedema – Cretinism – Down’s syndrome – Hurler syndrome – Amyloidosis
- 18. Facies With Syndrome • Hypertelorism, epicanthic folds, broad flat nose, low set ears, & short neck • Moon face • Ape like face • Mongoloid face • Grotesque face • Elfin face • Dull expression face • Frightened & staring • Turner & Noonan syndrome • Cushing’s syndrome • Acromegaly • Down’s syndrome • Hurler’s syndrome • William’s syndrome • Myxedema • Thyrotoxicosis
- 19. Build & Stature • Indices of build & stature – Height(Herpenden’s stadiometer), lower & upper segment – Arm span – Body mass index – Waist circumference
- 20. Causes Of Tall Stature • Constitutional • Pituitary giant With equal upper & lower segment • Marfan syndrome • Homocystinuria • Klinefelter’s syndrome With upper & lower segment ratio ≤0.8
- 21. Tall Stature
- 22. Causes Of Short Stature • Normal variant – Constitutional growth delay – Familial short stature • Endocrinological – GH deficiency – GH insensitivity – Hypothyroidism – Cushing’s syndrome – Diabetes mellitus • Nutritional deprivation – Marasmus – Kwashiorkor – Anorexia nervosa • Psychosocial • Intra uterine growth retardation • Systemic disease – Malabsorption – Cyanotic heart disease – Renal disorder – Hematologic disorder – Inborn error of metabolism – Chronic infection • Genetic syndrome – Turner syndrome – Noonan syndrome – Down’s syndrome – Prader-Willi syndrome • Osteo-chondro-dysplasias – Achondroplasia – Hypochondroplasia • Miscellaneous – Neurofibromatosis – Juvenile rheumatoid arthritis
- 24. Causes of obesity • Familial • Genetic – Leptin defect – Leptin receptor defect – Pro-opiomelanocortin defect – Receptor defect for MSH • Endocrinological – Cushing’s syndrome – Hypothyroidism – Insulinoma • Obesity syndrome – Metabolic syndrome – Prader-Willi syndrome – Laurence-Moon-Biedl syndrome – Ahlstrom’s syndrome – Cohen’s syndrome – Carpenter’s syndrome
- 26. Neck Examination • Thyromegaly • Short neck (Ratio of height to the distance between external occipital protuberance & C7 spinous process ≥ 13.6) – Klippel-Feil syndrome – Morquio’s syndrome • Webbed neck – Noonan syndrome – Turner syndrome – Edward syndrome(trisomy 18) • Low hair line – Noonan syndrome – Turner syndrome – Klippel-Feil syndrome – Cornelia de Lange’s syndrome (Posterior hair line extends below the level of C5 spinous process or ratio of distance from external occipital protuberance from the hair line & the distance from the hair line to C7 spinous process is >1/6 in male & >1/4 in female)
- 27. Neck Short neck Webbed neck
- 28. Hormonal Hypertension • Low renin hypertension – 11β hydroxylase deficiency – 17 α hydroxylase deficiency – Primary aldosteronism – Glucocorticoid remediable hypertension – Apparent mineralocorticoid excess • High renin hypertension – Renovascular abnormality – JG cell tumor – Bilateral endocrine dysfunction of kidney • Endocrinological – Hyperthyroidism – Hypothyroidism(diastolic) – Pheochromocytoma – Cushing’s syndrome – Acromegaly – Hyperparathyroidism • Drugs – Corticosteroid – OCPs • Syndromes – Little syndrome – William’s syndrome – Turner syndrome – Adrenogenital syndrome
- 29. Generalized Skin & Nail • Diabetes – Infections – Acanthosis nigricans – Necrobiosis lipoidica – Granuloma annulare – Other dermatoses • Xanthomas • Neuropathic foot ulcers • sclerodactyly
- 30. Cutaneous Manifestation Of Diabetes • Infections – Candidal • Candidal intertrigo, paronychia, vulvovaginitis, balanoposthitis – Pyoderms • Staphylococcal (recurrent furuncles & curbuncles) • Dermopathy – Most common – Small, dull red papules with a superficial scales; slowly resolve to leave small, brown, depressed scars • Acanthosis nigricans – Velvety hyperpigmented plaques with a feathered edge • Necrobiosis lipoidica – Single or multiple, asymptomatic, indurated annular, yellowish brown plaques. Center is atrophic with ectatic blood vessels visible through the thinned skin • Granuloma annulare – Erythematous dermal papules arranged in an annular pattern seen on pressure points
- 31. Cutaneous Manifestation Of Diabetes Necrobiosis lipoidica Acanthosis nigricans
- 32. Cutaneous Manifestations Of Thyroid Disorders Hyperthyroidism • Worm , moist, smooth skin, best made out on palms & soles. Palmo-plantar hyperhydrosis • Persistent flush of face & palm • May be associated with hyperpigmentation of face or with vitiligo • Pre-tibial myxedema – Asymmetric firm plaques with a “Peau d’ orange” appearance Hypothyroidism • Ichthyotic skin – Resembles ichthyosis vulgaris • Dry, cold, pale skin • Podgy non-pitting generalized edema (myxedema) • Dry, coarse, brittle hair. Follicular keratoses. Alopecia of scalp. Supra-ciliary madarosis of lateral third of eye brow
- 33. Cutaneous Manifestations Of Thyroid Disorders Pre-tibial myxedema
- 34. Cutaneous Manifestations Of Pituitary Disorder Acromegaly • Corrugated appearance of forehead & scalp(cutis verticis gyrata) • Seborrhoea • Hyperhydrosis Hypopituitarism • Thin, pale, cold skin
- 35. Cutaneous Manifestations Of Adrenal Disorders Cushing’s Syndrome • Striae distensae – Linear, erythematous, atrophic lesions, most frequently over abdomen • Skin atrophy – Fragility – Bruising – Poor healing • Hirsutism • Acneiform eruption • Adenoma sebceum • Alopecia • Candidal infection Adrenal Insufficiency • Pigmentation of skin – Mainly seen in primary adrenal insufficiency – Exaggeration of normal pigmentation, seen on photo-exposed area & at site of trauma, pressure points, friction points – Mucosal pigmentation – Pigmentation of nail – Sometime chloasma like pigmentation
- 36. Cutaneous Manifestations Of Adrenal Disorders Cushing’s Syndrome Muco-cutaneous pigmentation
- 37. Cutaneous Manifestations Of Metabolic Diseases(Porphyrias) Erythropoietic porphyria • Congenital erythropoietic porphyria – Severe photosensitivity soon after birth, sun induced blister – Lesion heal with scar & mutilating, hypertrichosis conspicuous on face – Brown teeth, fluorescence in Wood’s lamp – Passing of red colored urine • Erythropoietic protoporphyria – Burning, edema, urticaria on sun exposure – Thickening of skin & superficial scarring – Urine color normal Hepatic porphyria • Porphyria cutanea tarda – Blisters on photo exposed parts – Over time, skin becomes thickened(sclerodermoid) & scarred – Hypertrichosis – Urine is pink & bright coral pink on Wood’s lamp • Variegate porphyria – Like previous – Precipitated by drugs – Abdominal pain, neuro-psychiatric symptom – Red colored urine during attack of abdominal pain
- 38. Cutaneous Manifestations Of Metabolic Diseases(Xanthoma) Type Morphology Sites Associated hyperlipidemia Xanthelesma palpebrarum Soft, yellow, flat, ovoid plaques Eyelids Type 2,3 Secondary Tuberous xanthoma Firm, yellow nodule Elbows, knees, back Type 2,3 Secondary Tendinous xanthoma Subcutaneous swelling along tendons Fingers & Achilles tendon Type 2,3 Secondary Eruptive xanthoma Shower of small, multiple, yellow papules Buttocks & shoulders Type 1, 2, 4 Secondary Plane xanthomas Yellow macules Palmer creases Type 3 Secondary
- 39. Cutaneous Manifestations Of Metabolic Diseases(Xanthoma) Tuberous xanthoma Eruptive xanthoma
- 40. Extremities (Digits) • Arachnodactyly – Unduly long & thin fingers & toes with positive wrist & thumb signs(Marfan syndrome, sickle cell anaemia) • Polydactyly – Presence of extra fingers or toes (Laurence-Moon-Biedl syndrome) • Syndactyly – Webbed finger, fusion between the adjacent fingers or toes may be dermal or osseous(Laurence-Moon- Biedl syndrome) • Clindactyly – Incurved fingers, mainly seen in little finger with increased space between 4th & 5th finger(Down’s syndrome) • Fingerized thumb – Triphalangeal thumb(Holt- Oram syndrome) • Brachydactyly – Equal length, all fingers sre shortened(Down, Turner, Hyperparathyroidism) • Clenched hand – Index finger overlapping over 3rd & 5th finger overlapping over 4th (Edward syndrome)
- 41. Extremities(Nail) • Acropachy( Grave’s dermopathy + clubbing) • Plummer nails • Square/broad nails • Thyrotoxicosis • Hyperthyroidism • Acromegaly
- 42. Extremities(Feet) • Pes cavus(claw foot) – Exaggeration of the longitudinal arch of the foot resulting in a marked upward convexity of the instep & drawing up of toes • Rocker bottom foot – Due to protruding heel – Edward syndrome • Genu varum – Outward bowing of legs with knees wide apert – Achondroplasia, Osteogenesis imperfecta • Genu valgum – Inward bowing of legs – Laurence-Moon-Biedl – Rickets
- 44. Extremities(Diabetic Feet) Etiology • Absence of protective sensation due to peripheral neuropathy • Arterial insufficiency • Foot deformity & callus formation • Autonomic neuropathy causing dry, fissured skin • Limited joint mobility • Obesity • Impaired vision • Poor glycemic control leading to poor wound healing • Poor footwear use • Past history of foot ulcers
- 46. Depth-Ischemia Classification Depth classification Definition 0 At risk foot No ulceration 1 Superficial ulceration, not infected 2 Deep ulceration Exposing tendons or joint 3 Extensive ulceration or abscess Ischaemia classification Definition A No ischaemia B Ischaemia without gangrene C Partial (fore foot) gangrene D Complete foot gangrene
- 47. Extremities(Diabetic Feet) Neuro-arthropathy • Classified according to Sanders & Mrddjencovich – Pattern 1 – Forefoot – Pattern 2- Lisfranc’s joint – Pattern 3 – lesser tarsus – Pattern 4 – ankle – Pattern 5 – calcaneus or posterior piller Peripheral arterial disease • Four time more prevalent in diabetics • Augmented by smoking • Arterial occlusion typically involve infra-popliteal artery but spares the dorsalis pedis
- 49. Systemic Examination • Inspection • Palpation • Percussion • Auscultation • Measurement
- 50. Inspection (Thyroid) • Movement with deglutition • Movement with protrusion of tongue • Position & extent of swelling of both lobes & isthmus • Shape, size, surface, margin, skin over swelling • Any visible pulsation • Any venous prominence over neck or chest wall • Inspection for toxicity – Tremor of hand & tongue – Exophthalmos – Dalrymple’s sign – Von Graefe’s sign – Joffroy’s sign – Moebius’s sign – Stellwag’s sign – Pemberton’s sign
- 51. Inspection Inspection of breast • Degree of enlargement of male breast in gynaecomastia • Female breast may be atrophied in virilization • Tanner staging Inspection of external genitalia • Male – Penile length – Scrotal apperance – Pubic hair – Tanner staging of pubic hair • Female – Clitoromegaly – Pubic hair & Tanner staging
- 52. Palpation(Thyroid) • Temperature • Tenderness • Movement with deglutition • Position & extent of swelling • Shape, size, surface, margin • Consistency • Neck circumference • Pulsation • Thrill • Skin fixity • Mobility • Position of larynx & trachea • Carotid pulsation Different methods of palpation of thyroid are – Lahey’s, Pizzilo’s, Crile’s method
- 53. Palpation Palpation of breast • Enlargement of male breast & its degree of enlargement with relation to disc • Any nodule, lump Palpation of external genitalia • Stretched penile length • Approximate volume of testes & consistency • Palpation of labial fold to see the presence of gonads
- 54. Percussion & Auscultation • Percussion over manubrium sterni for evaluation of retro-sternal prolongation thyroid swelling • Any bruit over thyroid audible or not
- 55. Measurement • Upper segment – from vortex to upper border of symphysis pubis • Lower segment – from upper border of symphysis pubis to heel • Body mass index – (weight in Kg)/height(m2) • Waist circumferance – measured at a point between lowest point of costal margin & heighst point of ileal crest • Waist:Hip ratio
- 56. Sexual Maturation Index • Breast – Tanner staging (stage 1 to stage 5) • Pubic hair – Tanner staging (stage 1 to stage 6) • Stretched penile length – • Testicular volume – Prader’s orchidometer • Clitoral index – length x breath of clitoris