CLINICAL EXAMINATION IN ENDOCRINOLOGY

Prof . S. P. Chowdhury

Rajat Kar & Tanmoy Mandal

General Survey

• Facies

• Build & Stature

• Nutrition

• Decubitus

• Neck vein

• Neck glands

• Anemia

• Cyanosis

• Clubbing

• Jaundice

• Edema

• Pulse

• Respiration

• Temperature

• BP

• Generalized skin & nail

• Extremities

Facies

• Hair

• Eye

• Ear

• Mid facial structure

• Lip

• Dental alliance

• Palate

• Tongue

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.

VirilizationA condition in which androgen levels are sufficiently high to cause additional sign & symptoms possibly due to ovarian or adrenal neoplasm

Hirsutism

Hair Changes

Alopecia

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

Eye Changes

Hypertelorism Exophthalmos

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

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

Ear Changes

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

Mid Facial Structure

William syndrome Hurler syndrome

Lip Changes

• Thick lips

– Hurler syndrome

– Acromegaly

– Myxedema

– Cretinism

• Absent philtrum

• Rhagades

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

Tongue Changes

• Macroglossia

– Acromegaly

– Myxedema

– Cretinism

– Down’s syndrome

– Hurler syndrome

– Amyloidosis

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

Build & Stature

• Indices of build & stature– Height(Herpenden’s stadiometer), lower & upper

segment

– Arm span

– Body mass index

– Waist circumference

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

Tall Stature

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

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

Laurence-Moon-Biedl Syndrome

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)

Neck

Short neck Webbed neck

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

Generalized Skin & Nail

• Diabetes

– Infections

– Acanthosis nigricans

– Necrobiosis lipoidica

– Granuloma annulare

– Other dermatoses

• Xanthomas

• Neuropathic foot ulcers

• sclerodactyly

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

Cutaneous Manifestation Of Diabetes

Necrobiosis lipoidica Acanthosis nigricans

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

Cutaneous Manifestations Of Thyroid Disorders

Pre-tibial myxedema

Cutaneous Manifestations Of Pituitary Disorder

Acromegaly

• Corrugated appearance of forehead & scalp(cutis verticis gyrata)

• Seborrhoea

• Hyperhydrosis

Hypopituitarism

• Thin, pale, cold skin

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

Cutaneous Manifestations Of Adrenal Disorders

Cushing’s Syndrome Muco-cutaneous pigmentation

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

Cutaneous Manifestations Of Metabolic Diseases(Xanthoma)

Type Morphology Sites Associated hyperlipidemia

Xanthelesmapalpebrarum

Soft, yellow, flat, ovoid plaques

Eyelids Type 2,3Secondary

Tuberous xanthoma

Firm, yellow nodule Elbows, knees, back

Type 2,3Secondary

Tendinousxanthoma

Subcutaneous swelling along tendons

Fingers & Achillestendon

Type 2,3Secondary

Eruptive xanthoma Shower of small, multiple, yellow papules

Buttocks & shoulders

Type 1, 2, 4Secondary

Plane xanthomas Yellow macules Palmer creases Type 3 Secondary

Cutaneous Manifestations Of Metabolic Diseases(Xanthoma)

Tuberous xanthoma Eruptive xanthoma

Extremities (Digits)

• Arachnodactyly– Unduly long & thin fingers &

toes with positive wrist & thumb signs(Marfansyndrome, sickle cell anaemia)

• Polydactyly– Presence of extra fingers or

toes (Laurence-Moon-Biedlsyndrome)

• 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)

Extremities(Nail)

• Acropachy( Grave’s dermopathy + clubbing)

• Plummer nails

• Square/broad nails

• Thyrotoxicosis

• Hyperthyroidism

• Acromegaly

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, Osteogenesisimperfecta

• Genu valgum

– Inward bowing of legs

– Laurence-Moon-Biedl

– Rickets

Rocker bottom foot(X-ray)

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

Extremities(Diabetic Feet)

Depth-Ischemia Classification

Depth classification

Definition

0 At risk footNo ulceration

1 Superficial ulceration, not infected

2 Deep ulceration Exposing tendons or joint

3 Extensive ulceration or abscess

Ischaemiaclassification

Definition

A No ischaemia

B Ischaemia without gangrene

C Partial (fore foot) gangrene

D Complete foot gangrene

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-poplitealartery but spares the dorsalis pedis

Peripheral arterial disease

Systemic Examination

• Inspection

• Palpation

• Percussion

• Auscultation

• Measurement

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

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

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

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

Percussion & Auscultation

• Percussion over manubrium sterni for evaluation of retro-sternal prolongation thyroid swelling

• Any bruit over thyroid audible or not

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 & heighstpoint of ileal crest

• Waist:Hip ratio

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