Endocrinology Tutorial

The diagnosis of an endocrine disorder first requires a compatible clinical syndrome based on history and physical examination. In the absence of a compatible clinical syndrome, laboratory tests and other studies cannot be interpreted properly. Physical examination plays a fundamental role in the diagnosis of endocrinopathies.

 

Diabetes

 

Small muscle wasting

Muscle wasting can often be best seen in the small muscles of the dorsum of the hand and between the thumb and index finger.

 

Diabetic cheiroarthropathy (prayer sign)

Stiffness in joints preventing fingers from opposing each other in a prayer position. 

 

Dupuytren’s contracture

Thickening of the palmar fascia. Seen in diabetic patients frequently.

 

Charcot joint

Caused by loss of proprioception leading to constant trauma. Charcot described them in patients with syphilis. Patients present with warmth, redness, and edema, and over time the joints and bones of the feet are destroyed leaving a deformed foot that is prone to infection.

 

Hammer toes

Hammer toes are so called as they resemble the hammers on a piano.

 

Diabetic dermopathy

Atrophic, brownish patches usually found on the anterior lower legs. They are the most common skin lesions seen in diabetic patients and a marker of retinopathy, nephropathy, and neuropathy.

 

Necrobiosis lipoidica diabeticorum

Raised plaques that may ulcerate, found predominantly on the shins but are larger than diabetic dermopathy.

 

Acanthosis nigricans

A skin disorder frequently described as “velvety” papillomatous hyperplasia with hyperpigmentation, found predominantly in the skin creases of the neck, axilla, inguinal, and inframammary folds. It is associated with a variety of endocrinopathies (acromegaly, Cushing’s, diabetes) as well as with neoplastic diseases.

 

Eruptive xanthoma

Red/yellow papules that may be found in patients with extremely elevated triglycerides.

 

Vitiligo

An autoimmune condition characterized by patches of hypopigmentation. May be seen in patients with type 1 DM as autoimmune diseases tend to coexist.

 

Diabetic retinopathy

Red-colored hemorrhages and yellowish macular exudates. Proliferative diabetic retinopathy demonstrates new blood vessel growth.

 

Hypocalcemia

Chvostek’s sign

Chvostek’s sign describes facial muscle contraction on tapping the parotid gland over the facial nerve.

 

Trousseau’s sign

Trousseau’s sign describes the development of carpal spasms after inflating a sphygmomanometer cuff over the brachial artery above systolic blood pressure. It is more specific for hypocalcemia than Chvostek’s sign.

 

Albright’s osteodystrophy

Patients with pseudohypoparathyroidism (due to resistance to PTH) may have the classic shortening of the 4th and sometimes 5th MCP and MTP, known as Albright’s hereditary osteodystrophy.

 

Cushing’s syndrome

Moon facies

Fatty deposition in the bitemporal regions-often when sitting at eye level with your patient the deposition will hide their ears from your view.

 

Buffalo hump

Fatty deposition in the dorsocervical fat pad.

 

Abdominal striae

Atrophic linear bands of skin, with a tendency to occur in the abdomen. Unlike the striae in simple obesity, the striae of Cushing’s syndrome are thicker (> 1cm) and violaceous (due to dermal thinning).

 

Abdominal striae in obesity –The abdominal striae of Cushing’s syndrome are wide and purple in color, in contrast to the pale or pinkish striae of obesity.

 

Thin skin

Dermal atrophy (cigarette paper thin) due to steroid inhibition of collagen synthesis. Thin skin is established when a skin fold over the proximal phalanx of the middle finger of the nondominant hand is <2 mm thick. This finding carries a high positive likelihood ratio (115) for Cushing’s syndrome.

 

Bruising

The thin skin associated with Cushing’s syndrome makes these patients susceptible to easy bruising.

 

Hirsutism

An increase in terminal hair growth, particularly in women.

Goiter

Goiters are enlarged thyroid glands, which are found in10% of women and 2% of men. The normal thyroid weighs between 15 and 25 grams, and each lobe is 4-6 cm in length and 1.3-1.8 cm thick. Worldwide, the cause is inadequate iodine, but in the US, the most common causes include multiple nodules, Hashimoto’s thyroiditis, and Grave’s disease. In the US, about 80% of goiters are euthyroid, 10% are hypothyroid, and 10% are hyperthyroid.

 

Hypothyroidism Findings

Queen Anne’s sign

Thinning of the eyebrows, particularly the lateral third (known as the Sign of Hertoghe or Queen Anne’s sign).

 

Macroglossia

Enlarged tongue, usuallyin infants with congenital hypothyroidism.

 

Delayed relaxation phase of reflexes

Often better seen in the Achilles, particularly with the patient kneeling on a chair.

 

Dry skin

Dry, coarse hair and skin.

Acromegaly

Coarse facies

Patients have coarse facial features as a result of soft tissue and cartilage overgrowth.

 

Macrognathia

The mandible grows more rapidly than the maxilla causing the prognathism and the finding of widely spaced teeth in the mandible more often than the maxilla.

 

Frontal bossing

Enlarged supraorbital ridges.

 

 

Soft tissue enlargement

Enlarged hands and feet with thickened heel pads. Patients are said to have a “doughy” handshake. Often this is when the diagnosis is first entertained by the astute physician as the sensation is so distinct. Image of large lip, large hands, large feet.

Adrenal Insufficiency

 

Hyperpigmentation

Hyperpigmentation can be a sign of ACTH-independent (primary) adrenal insufficiency. High levels of ACTH found in these patients stimulate the melanocortin-1 receptor in the skin, resulting in hyperpigmentation. It tends to first occur in areas of the skin under pressure, including elbows, knuckles, palmar creases, lips, and buccal mucosa.

 

Hyperlipidemia

 

Xanthelasma

Red/yellow papules that occur around the eyes in patients with extremely elevated triglycerides.

 

Xanthoma

Red/yellow papules that occur on extensor surfaces (eg, elbows, knees) in patients with extremely elevated triglycerides.

 

Paget’s disease

Saber shins

Sharp anterior bowing of the tibia. 

Sources & further information:

  • Cooper MS, Gittoes NJ. Diagnosis and management of hypocalcaemia. BMJ. 2008;336(7656):1298-1302.
  • Loriaux DL. Diagnosis and differential diagnosis of Cushing’s syndrome. N Engl J Med. 2017;376(15):1451-1459.
  • McGee S. Evidence Based Physical Diagnosis. Second ed. St. Louis, Missouri: Saunders Elsevier; 2007.