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Adrenogenital syndrome - Skin
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Emergency: requires immediate attention

Adrenogenital syndrome - Skin

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Contributors: Tanya Nino MD, Jeffrey D. Bernhard MD, Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH, Nancy Esterly MD
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Synopsis

Adrenogenital syndrome, also known as congenital adrenal hyperplasia (CAH), is caused by an inherited enzyme deficiency in the adrenal cortex that leads to altered levels of adrenal cortical hormones. Adrenal cortical hormones include mineralocorticoids (ie, aldosterone), glucocorticoids (ie, cortisol), and sex steroids (ie, testosterone and estrogen). The syndrome occurs when an enzyme deficiency leads to decreased adrenal synthesis of glucocorticoid, which impairs feedback inhibition on the pituitary. As a result, the pituitary secretes increased levels of adrenocorticotropic hormone (ACTH), which stimulates the adrenal glands to enlarge and produce more intermediate substrates. These intermediate substrates are shunted toward functioning arms of the hormone synthesis pathways, where increased levels of other hormones are produced (either mineralocorticoids or androgens, depending on the enzyme deficiency). Altered levels of mineralocorticoids and sex hormones lead to electrolyte abnormalities, problems with sexual differentiation, and other signs and symptoms, depending on the deficient enzyme and extent of the deficiency.

21-Hydroxylase deficiency accounts for 95% of all cases of CAH and is inherited in an autosomal recessive pattern. It is due to a mutation of the CYP21 gene. It can occur in a classical or non-classical form. The incidence of the classical form of CAH is roughly 1:15 000, while that of the non-classical form is approximately 1:100. Classical CAH can be further divided into a salt-wasting form (75%) and a simple virilizing form (25%). 21-Hydroxylase is necessary for the production of cortisol and aldosterone. Lack of this enzyme shunts intermediate steroid precursors toward androgen production. Symptoms are related to excess androgens and, in the salt-wasting form of classical CAH, decreased aldosterone. Aldosterone is necessary for normal sodium retention and potassium secretion by the kidney.

Codes

ICD10CM:
E25.0 – Congenital adrenogenital disorders associated with enzyme deficiency

SNOMEDCT:
267395000 – Adrenogenital syndrome

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Differential Diagnosis & Pitfalls

11-Beta-hydroxylase deficiency is another cause of congenital adrenal hyperplasia with an incidence of 1:100,000 persons. It results in decreased cortisol and aldosterone, shunting intermediate substrates toward androgen synthesis. Even though aldosterone synthesis is impaired, an intermediate mineralocorticoid called 11-deoxycorticosterone can act on the kidney to reabsorb sodium. Thus, infants with 11-beta-hydroxylase deficiency will present with hypertension, differentiating this disorder from classical CAH. Other than this difference, the excess androgens in 11-beta-hydroxylase deficiency cause the same signs and symptoms as 21-hydroxylase deficiency.

17-Alpha-hydroxylase deficiency is a rare cause of congenital adrenal hyperplasia that leads to a decrease in adrenal androgen synthesis and an increase in aldosterone, causing renal reabsorption of sodium, hypertension, and hypokalemia. Males present with ambiguous external genitalia at birth. Females present with delayed puberty, amenorrhea, and failure to develop breasts and pubic hair. These patients will have low urine 17-ketosteroid and high urine gonadotropin levels. Treatment is with dexamethasone to suppress pituitary ACTH secretion and testosterone to aid with sexual maturation.

3-Beta-hydroxysteroid dehydrogenase deficiency is another rare cause of congenital adrenal hyperplasia that results in decreased production of all three groups of adrenal hormones, including mineralocorticoids, glucocorticoids, and sex steroids. This leads to salt wasting in both males and females, and ambiguous genitalia in males.

Polycystic ovarian syndrome can present with hirsutism, acne, and menstrual irregularities, but these patients will not have increased serum 17-hydroxyprogesterone, classical electrolyte abnormalities (hyponatremia, hyperkalemia), or increased urine 17-ketosteroids.

5-Alpha-reductase deficiency can cause ambiguous genitalia in male neonates because of a lack of conversion of testosterone to the more physiologically active dihydrotestosterone. At puberty, these patients may partially virilize.

Androgen insensitivity syndrome can cause ambiguous genitalia in male neonates, but prenatal undervirilization occurs with absence of pubic and axillary hair and lack of acne.

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Last Updated: 08/01/2017
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Emergency: requires immediate attention
Adrenogenital syndrome - Skin
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Adrenogenital syndrome (Classic (Child and Adult)) : Hyperkalemia, Infertility, BP decreased, Na decreased, Tall stature as a child
Clinical image of Adrenogenital syndrome
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