Clinical examination of Endocrine system

there is no clear cut approach for encrinological system examination. It is an attempt to finish the job to some extent

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 Cyanosi s 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 E xophthalmos

10. N.O.S.P.E.C.S. = 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( H erpenden’s stadiometer ), lower & upper segment Arm span Body mass index Waist circumference

20. Causes Of Tall Stature

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

23. 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

24. Laurence-Moon- Biedl Syndrome

25. 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)

26. Neck Short neck Webbed neck

27. Hormonal Hypertension Low renin hypertension 11 β 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

28. Generalized Skin & Nail Diabetes Infections Acanthosis nigricans Necrobiosis lipoidica Granuloma annulare Other dermatoses Xanthomas Neuropathic foot ulcers sclerodactyly

29. 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

30. Cutaneous Manifestation Of Diabetes Necrobiosis lipoidica Acanthosis nigricans

31. 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

32. Cutaneous Manifestations Of Thyroid Disorders Pre- tibial myxedema

33. Cutaneous Manifestations Of P ituitary D isorder Acromegaly Corrugated appearance of forehead & scalp (cutis verticis gyrata) Seborrhoea Hyperhydrosis Hypopituitarism Thin, pale, cold skin

34. 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

35. Cutaneous Manifestations Of Adrenal Disorders Cushing’s Syndrome Muco-cutaneous pigmentation

36. 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

37. 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

38. Cutaneous Manifestations Of Metabolic Diseases( Xanthoma ) Tuberous xanthoma Eruptive xanthoma

39. 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 4 th & 5 th 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 3 rd & 5 th finger overlapping over 4 th (Edward syndrome )

40. Extremities(Nail) Acropachy ( Grave’s dermopathy + clubbing) Plummer nails Square/broad nails Thyrotoxicosis Hyperthyroidism Acromegaly

41. 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 , O steogenesis imperfecta Genu valgum Inward bowing of legs Laurence-Moon- Biedl Rickets

42. Rocker bottom foot(X-ray)

43. Extremities(Diabetic Feet) 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 Etiology

44. Extremities(Diabetic Feet)

45. Depth-Ischemia Classification Depth classification Definition 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

46. 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

47. Peripheral arterial disease

48. Systemic Examination Inspection Palpation Percussion Auscultation Measurement

49. 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

50. 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

51. 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

52. 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

53. Percussion & Auscultation Percussion over manubrium sterni for evaluation of retro- sternal prolongation thyroid swelling Any bruit over thyroid audible or not

54. 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

55. Sexual Maturation Index Breast – T anner 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