The male patient (Fig. 1.36) presented with puffiness of face, headache and weight gain. Examination revealed moon face (plethoric face), hypertension, and oedema.
There were truncal obesity and abdominal striae. His left lower limb was in plaster (visible) due to fracture.
1. Cushing’s syndrome
The characteristic features include;
• Moon face, obesity (truncal or centripetal), camel hump
• Weight gain, hypertension, oedema
• Cutaneous striae, easy bruising, back pain, muscle weakness, osteoporosis
• Acne, hirsutism, menstrual irregulairty
• Emotional changes
• Pigmentation and hypokalaemic alkalosis
• Raised blood cortisol levels (loss of diurnol pattern), raised urinary excretion of 17-OH corti-costeroid and dexamethasone suppression test will confirm the diagnosis
2. Nephrotic syndrome
Read the features in clinical case discussion No. 18 3. Nephritic syndrome (read case discussion no. 17) 4. Myxoedema (Read case discussion no. 25)
5. Superior mediastinal syndrome (read case discussion no. 64). The characteristic features are;
• Cough, dyspnoea, chest pain
• Engorged but nonpulsatile neck veins
• Puffiness of face or moon face, cyanosis
• Hoarseness of voice, Horner’s syndrome, vocal cord paralysis
• Paralysis of hemidiaphragm 6. Angioneurotic oedema
• Type I hypersensitivity reaction, commonly due to drugs, e.g. ACE inhibitor
• Diffuse swelling of the eyelids, face (moon face), lips, tongue, hands, genital or other parts of the body
• Associated with itching
• Congenital variety is due to C1 esterase deficiency
• Wheezing, shortness of breath, headache, nausea, vomiting, arthalgia may occur as systemic manifestations
• Glottis may be involved producing suffocation
• The condition reverses with use of adrenaline, antihistamine and a steroid.
507. What are common indications of steroid therapy?
Ans. The indications of steroids therapy depending on mechanisms of action are enlisted in Table 1.136.
Fig. 1.36: Cushing’s syndrome
505. What is your diagnosis? What are the causes of moon face?
Ans. The symptoms and signs suggests the diagnosis of Cushing’s syndrome in the patient in picture which could be iatrogenic (steroid-induced) or due to disease (excess secretion of corticosteroids).
The moon face just implies rounded face due to oedema irrespective of its cause.
The causes of moon faces are:
• Cushing’s syndrome/Cushing’s disease
• Nephrotic syndrome (there is associated marked periorbital oedema producing boggy lower lids)
• Acute nephritic syndrome (periorbital oedema with narrowing of palpebral fissure).
• Hypothyroidism/cretinism (puffiness of face, thick skin, coarse facial features, large tongue, thick lips)
• Superior mediastinal compression syndrome (suffused face, prominent neck and facial veins)
• Angioneurotic oedema of face.
506. What is differential diagnosis of moon face?
Ans. The characteristic features of the disorders producing moon face are:
508. What are its contraindications?
Ans. The ‘check list’ prior to use of steroids include;
• Presence of tuberculosis or other chronic infection
• Glucose intolerance or history of gestational diabetes or presence of diabetes
• History of peptic ulcer, gastritis or hematemesis or malena (positive occult blood in stool)
• Hypertension
• Osteoperosis or postmenopausal women
• Previous history of psychological disorders.
509. What are side effects of steroids?
Ans. Read Unit 3–Commonly used drugs.
510. What is Cushing’s disease?
Ans. It is a disease state characterised by excessive secretion of ACTH from the anterior pituitary leading to bilateral adenal hyperplasia and hypercortisol state (excessive steroid production).
511. What are characteristics of Cushing’s syndrome due to ectopic ACTH production?
Ans. The features are:
• Acute onset of symptoms
• Hyperpigmentation
• Hypertension and oedema are more common
• Hypokalaemic alkalosis a characteristic feature
• The diagnosis is confirmed by markedly elevated ACTH level (> 300 ng/l)
512. What is Nelson’s syndrome?
Ans. This is characterised by increased ACTH produc-tion, hyperpigmentation and erosion of sella turcica due to development of chromophobe adenoma in patients with Cushing’s disease who have undergone bilateral adrenalectomy. This syndrome will not occur if pituitary has also been irradiated after bilateral adrenalectomy.
513. How do you classify steroids?
Ans. Read Unit 3, Commonly used drugs.
514. How will you investigate a case with Cushing’s syndrome?
Ans. Investigations are:
1. Blood examination for eosinopenia and neutro-philia
2. Serum sodium (hypernatraemia), K+ (hypokalae-mia) and pH (alkalosis)
3. Urinary excretion of 17-hydroxycorticosteroids increased
4. Glucose tolerance test may show impaired tolerance or frank diabetes (seen <20% cases) 5. X-ray skull and spine:-X-ray skull may show
enlargement of pituitary fossa if a pituitary tumour is suspected to be the cause. X-ray spines may show cord-fish vertebrae or fish-mouth appearance of intervertebral disc spaces
6. CT scan abdomen for adrenals may show a adrenal mass (adenoma or carcinoma) if adrenal is the cause
7. Plasma cortisol level elevated: There is loss of circadian rhythm
8. Plasma ACTH levels: They are high in ectopic ACTH production by a nonpituitary tumour, may be normal to high in pituitary tumour
9. Dexamethasone suppression test: There is no suppression of cortisol secretion in Cushing’s syndrome
10. Metyrapone test: It differentiates between ACTH dependent Cushing’s disease (exaggerated response) and non-ACTH dependent Cushing syndrome (no response)
Table 1.136: Actions and indications of steroid therapy
Action Uses
• Anti-inflammatory agents • Rheumatoid arthritis, acute rheumatic carditis
• Antiallergic agent • Allergic skin conditions (urticaria), anaphylactic shock, acute severe asthma
• Antilymphocytic • Acute lymphatic leukaemia
• Immunosuppressive • Nephrotic syndrome, SLE and other collagen vascular disorders, interstitial lung disease, in organ transplantation to prevent rejection
• Antifibroblastic agent to prevent adhesions • Used locally or systemically in joint disease, pericardial and pleural effusion
• As replacement therapy in its deficiency • Addison’s disease, Sheehan’s syndrome
• To lower intracranial tension • Cerebral oedema, CVA, benign raised intracranial tension
• As a diagnostic test to suppress raised levels • Dexamethasone or steroid suppression test of endogenous steroids
515. Name the abdominal striae.
Ans. The striae are named as follows:
• Silvery white striae/striae gravidarum due to pregnancy or following delivery.
• Pink striae due to Cushing’s syndrome or steroid excess.
516. What is Conn’s syndrome? What are differen-ces between primary and secondary hyperaldo-steronism?
Ans. Conn’s syndrome is primary hyperaldosteronism due to adenoma or hyperplasia of adrenal cortex or idiopathic in origin.
Secondary hyperaldosteronism means raised aldosterone levels due to oedematous states or low sodium such as seen in nephrotic syndrome, cirrhosis of the liver and congestive heart failure.
The differences between the two are given in the Table 1.137.
Table 1.137: Distinction between primary and secondary hyperaldosteronism
Primary Secondary
hyperaldosteronism hyperaldosteronism
• It is due to involvement It is secondary to of adrenal cortex oedematous states or
low sodium
• Hypertension is a No hypertension characteristic feature
• Hypokalaemia is a Hypokalaemia occurs, characteristic feature commonly due to with all its symptoms use of diuretics and signs
• Plasma aldosterone Plasma aldosterone levels elevated but and plasma renin renin activity is activity elevated suppressed
517. What is normal serum K+ level? What are the causes of hypokalaemia?
Ans. Normal serum K+ level is 3.5 to 5.5 mEq/L.
Hypokalaemia is said to be present when serum K+ is
<3.0 mEq/L. The common causes are;
1. Diuretics
2. GI tract diseases, e.g. diarrhoea or malabsorption 3. Metabolic alkalosis
4. Renal tubular acidosis
5. Deficient dietary intake 6. Cushing’s syndrome 7. Conn’s syndrome 8. Bartter’s syndrome
9. Insulin effect as well as diabetic ketoacidosis.
518. What are characteristic features of hypo-kalaemia?
Ans. These are;
I. Neuromuscular
• Muscle weakness, fatigue
• Abdominal distension, adynamic ileus
• Distension of bladder, constipation
• Hyporeflexia II. Renal
Metabolic alkalosis III. Cardiac
• ECG changes, e.g. appearance of U waves, prolonged QTc, ST depression and T wave inversion
• Arrhythmias, e.g. ectopics, torsade de pointes.
519. What is the pathogenesis of truncal obesity in Cushing’s syndrome?
Ans. It is due to redistribution of fat to central part under the effect of glucocorticoids.
520. Name the hormones secreted by adrenal cortex and their effects.
Ans. The hormones secreted and their effects are tabulated (Table 1.138).
521. What are endocrinal causes of obesity?
Ans. Cushing syndrome
• Hypothyroidism
• Hypogonadism (e.g. Frohlich’s syndrome, Laurence-Moon-Biedl syndrome, Pradev-Willi syndrome)
• Type 2 diabetes
• Following pregnancy and postpartum.
522. What is android and gynoid obesity? What is their significance?
Ans. Android obesity (e.g. abdominal or central obesity) is due to collection of fat in the abdomen above the waist producing apple-shaped body. It is associated with increased risk of CHD, HT, DM and dyslipidaemia.
Gynoid obesity is due to collection of fat below the waist i.e. on the hips and buttocks producing pear-shaped body. It predisposed the individual to mechanical complications, e.g. OA, varicose veins etc.
Table 1.138: Adrenocorticol hormones
Hormone Effect Symptoms and signs
1. Aldosterone Retention of Oedema, hyper-(mineralo- Na+ and H2O tension,
corticoid) weight gain
2. Glucocorticoids Redistribution Truncal obesity,
of fat moon faces, camel
hump
• Mobilisation • Striae of proteins from • Easy bruising supportive tissues, • Back pain, e.g. subcutaneous, fracture, bone and muscles osteoporosis
• CNS effects • Emotional changes and personality changes
• ACTH in • Pigmentation Cushing’s disease • Hypokalaemic
alkalosis 3. Adrenal Virilisation • Hirsutism and
androgens menstrual
irregularity