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Adrenal gland and paraganglia

Congenital anomalies

Congenital adrenal hyperplasia


Reviewer: Nat Pernick, M.D. (see Reviewers page)
Revised: 6 February 2013, last major update February 2005
Copyright: (c) 2002-2013, PathologyOutlines.com, Inc.

General
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● Various autosomal recessive syndromes due to enzyme deficiencies in biosynthesis of adrenal steroids, diverting production to other pathways and causing elevated ACTH levels and adrenocortical hyperplasia

Clinical features
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● Usually children, rarely adults; no gender preference,
● Symptoms depend on specific defect; include salt wasting, virilization, adrenogenital syndrome and hypertension
Salt wasting syndrome: usually evident soon after birth (in utero, maternal kidneys maintain electrolytes and fluids); hypotension due to decreased serum sodium and increased serum potassium (from lack of aldosterone production), acidosis, cardiovascular collapse and death
Simple virilizing syndrome: easier to detect in females (clitoral hypertrophy) than males
Non-classic virilizing syndrome: more common than simple virilizing syndrome; asymptomatic or only hirsutism
Adrenogenital syndrome: adrenal secretes excess androgens, causing changes towards adult masculinity in children or female adults; 50% occur before puberty, 80% are female; diagnose based on elevated dehydroepiandrosterone; rarely associated with male adult feminization due to increased 17-ketosteroids
Congenital adrenal hyperplasia tumors: virilization in adult women is usually associated with carcinoma, particularly if Cushing’s syndrome also present; feminization in adult men is almost always associated with carcinoma; congenital adrenal hyperplasia is associated with testicular tumors that arise from ectopic adrenal cortical rests (Arch Pathol Lab Med 2000;124:785), and rarely with similar ovarian tumors (Am J Surg Pathol 2001;25:1443)
Congenital lipoid adrenal hyperplasia: very rare, low cortisol and aldosterone secretion, high levels of ACTH, FSH, LH and plasma rennin; present with severe adrenal insufficiency in neonatal period; usually die in infancy

Specified enzyme deficiencies
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21-hydroxylase deficiency: causes 95% of cases; incidence of 1 per 5,000 to 14,500 births (1 in 60 in the normal population are heterozygotes); block in production of aldosterone and cortisol leads to accumulation of 17-hydroxypregnenolone and its catabolite pregnanetriol, also high plasma ACTH; causes virilizing syndrome, cortisol deficiency and variable salt wasting syndrome; also Leydig cell hyperplastic nodules without Reinke crystalloids
Non-classic 21-hydroxylase deficiency: very common autosomal recessive disorder (1% incidence in parts of US), with mild cortisol deficiency, excessive adrenal androgens and no salt wasting; usually diagnosed by early adulthood
11-beta hydroxylase deficiency: second most common form (5%), incidence of 1 per 100,000 live births; associated with increased androgens and deoxycorticosterone; causes virilization and hypertension
17-alpha hydroxylase deficiency: causes 1% of cases, all patients have female external genitalia due to increased deoxycorticosterone; also hypertension
3 beta hydroxysteroid dehydrogenase deficiency: impaired synthesis of all steroid hormones, adrenal gland is similar to normal fetus; patients present in early infancy with adrenal insufficiency, variable virilization in females

Treatment
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● Exogenous glucocorticoids and mineralocorticoids to provide cortisol and suppress ACTH levels
● Surgical correction of external genitalia

Gross description
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● Marked adrenal enlargement (15g each gland) with cerebriform appearance, tan-brown
● Secondary to elevated ACTH (due to reduced cortisol secretion)

Micro description
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● Diffuse cortical hyperplasia, particularly of zona reticularis-like compact cells

Differential diagnosis
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Bilateral hyperplasia due to ectopic ACTH: not grossly cerebriform, may have metastatic carcinoma and differentiate clinically

End of Adrenal gland and paraganglia > Congenital anomalies > Congenital adrenal hyperplasia


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