Pathology of Adrenal Cortex II
Adrenal cortex
Hyperadrenalism
Excessive secretion of any one of the three
basic types of corticosteroids gives rise to a
distinct clinical syndrome:
1. Aldosterone – hyperaldosteronism (Conn’s
syndrome)
2. Cortisol – Cushing’s syndrome
3. Androgens – adrenogenital syndromes
Aldosterone is primarily involved with fluid and
electrolyte balance.
Aldosterone secretion causes sodium
reabsorption in the distal renal tubule in
exchange for potassium and hydrogen ions.
The net effects are, fluid retention, decrease in
plasma potassium and metabolic alkalosis.
Hyperadrenalisms
Adrenal cortex
Primary Hyperaldosteronism
Primary hyperaldosteronism – excess aldosterone secretion
which is independent of the renin-angiotensin system
(Conn’s syndrome)
Causes:
Aldosterone secreting adenoma
Bilateral hyperplasia of the cortex
Rarely carcinoma
Clinical features:
Hypertension, hypokalemia, sodium retention, muscle weakness,
paraesthesia, ECG changes, cardiac decompensation
Aldosterone, by inducing renal distal tubular
reabsorption of sodium, enhances secretion of
potassium and hydrogen ions, causing
hypernatremia, hypokalemia, and metabolic
alkalosis.
Frequency:
Prevalence for Conn syndrome; 0.05-2% of the
population.
Mortality/Morbidity:
The morbidity and mortality associated with Conn
syndrome, are primarily related to;
1- Hypertension, especially if left untreated for
many years, can lead to many complications,
including heart disease (eg, coronary artery
disease, congestive heart failure), stroke, and
intracerebral hemorrhage (with very high blood
pressure).
2-Hypokalemia, especially if severe, causes
cardiac arrhythmias, which can be fatal
Age
Peak incidence occurs in the third to sixth decades
of life.
Sex
Primary hyperaldosteronism is twice as common in
women as in men.
II- 2ry hyperaldosteronism:
There is increased renin-angiotensin with
increased aldosterone secretion;
-CHF
-Liver cirrhosis and ascites
-Nephrotic syndrome
-Renal artery stenosis
Clinical features
Clinical suspicions should be raised when
Hypertension occur with hypokalemia.
Moderate to sever hypertension
Hypokalemia
Muscle weakness
Malaise
Polyuria polydipsia
Investigations
• Blood : Hypokalemia
Plasma aldosterone
• Urine : Increase urinary potassium
• Imaging : U S
CT
MRI
Iodocholesrerol isotope
scan
Adrenal vein sampling
Treatment
• Spironolactone
• Adrenalectomy
Congenital Adrenal
Hyperplasia (CAH)
By:
Dr. Atif Ali Bashir
Pathology Department
Faculty of Medicine
Majmaah University
Congenital Adrenal
Hyperplasia
 CAH refers to a
group of disorders
characterized by
genital
abornomalities due
to deficiencies of the
adrenal gland
Causes
 Lack of an enzyme needed by the
adrenal gland to make the hormones
cortisol and aldosterone.
 Without these hormones, the body
produces more androgen which is a type
of male sex hormone.
 This causes male characteristics to
appear early or inappropriately.
Congenital Adrenal
Hyperplasia
 The first case was described in 1865
 Family of inherited disorders of adrenal
steroidogenesis
 Each disorder results from a deficiency of one
of several enzymes necessary for steroid
synthesis
 Autosomal Recessive (M=F)
 21-hydroxylase  is the commonest form
Location of Defective
Gene
 CAH is caused by
mutations of the
CYP11B1 gene.
 The CYP11B1 gene is
found on chromosomes
13 and 18
Congenital Adrenal
Hyperplasia
.
Congenital Adrenal Hyperplasia
CAH due to 21-Hydroxylase Deficiency
90–95% of CAH cases are caused by 21- OHD
Females affected with severe, classic 21- OHD are
exposed to excess androgens prenatally and are
born with virilized external genitalia
Symptoms
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Male
Enlarged penis
Failure to regain birth weight
Weight loss
Dehydration
Vomiting
Precocious puberty
Rapid growth during
childhood, but shorter than
average final height.
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Female
Ambiguous genitalia
Failure to regain birth weight
Weight loss
Dehydration
Vomiting
Precocious puberty
Rapid growth during
childhood, but shorter than
average final height.
Infertility
Irregular or absent
menstruation
Masculine characteristics
Presentations of 21
HCAH
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Ambiguous genitalia in girls
Dehydration
Shock
Salt-loss presentations with electrolytes
imbalance
 Hyponatremia
 Hyperkalaemia
 Hypoglycemia
 Hyperpigementations
.
Symptoms
Young woman with
excess hair growth
Baby girl with
ambiguous genitalia.
BOYS WITH CAH
Are unrecognized at birth because their genitalia are normal.
Present early with salt wasting
crisis resulting in dehydration,
hypotension, hyponatremia and
hyperkalemia
Or present later in childhood with early
pubic hair, precocious puberty and
accelerated growth
Non classical
CAH
.
Diagnosis
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Serum electrolytes & glucose
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Low Na & high K
Fasting hypoglycemia
Elevated serum urea due to associated dehydration
Elevated plasma Renin & ACTH levels
Low Cortisol
High 17 – OHP
High androgens especially testosterone level
Low Aldosterone
Urinary steroid profile
Chromosomes
Pelvic US
Treatment
 To treat CAH, children are usually
referred to a pediatric endocrinologist.
 Oral drugs are prescribed to boost the
hormone levels
 Hydrocortisone and Dexamethasone are
common meds to replace cortisol
 Fludrocortisone might be prescribed to
replace aldosterone.
Pedigree Chart
 CAH is
autosomal
recessive.
 This pedigree
chart illustrates
a child’s
chances of
inheriting the
condition if both
parents are
carriers.
Adrenal Neoplasms
• Cortex:
– Adenoma
• Usually Non-Functioning
– Carcinoma
• Usually Functional
• Medulla:
– Pheochromocytoma
– Neuroblastoma
Adrenal Cortical Adenoma
• F >> M 30-50 years of age
• gross: well-circumscribed encapsulated
nodule
• solid yellow cut surface. Some have
hemorrhage/cystic degeneration.
Adrenal Cortical Adenoma
Adrenal Adenoma
Adrenal Cortical Carcinoma
• wide age spectrum
• often functional associated with
hyperadrenalism
• large, often >100 grams
• gross: foci of hemorrhage, necrosis
• micro: foci of necrosis, cytologic atypia,
frequent mitoses, “solid” pattern
Cortical Carcinoma
Adrenal Carcinoma
Pheochromocytoma
• a tumor of adrenal medulla
• 30-60 yrs.; F > M
• rule of 10’s: 10% bilateral, malignant,
occur in children, familial, extra-adrenal
• Gross: solid, pale to light brown masses
• clinical: hypertension, tachycardia,
tremor, headache, sweating
Pheochromocytoma
Pheochromocytoma