21-hydroxylase deficiency

21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.There are three types of 21-hydroxylase deficiency. Two types are classic forms, known as the salt-wasting and simple virilizing types. The third type is called the non-classic type. The salt-wasting type is the most severe, the simple virilizing type is less severe, and the non-classic type is the least severe form.Males and females with either classic form of 21-hydroxylase deficiency tend to have an early growth spurt, but their final adult height is usually shorter than others in their family. Additionally, affected individuals may have a reduced ability to have biological children (decreased fertility). Females may also develop excessive body hair growth (hirsutism), male pattern baldness, and irregular menstruation.Approximately 75 percent of individuals with classic 21-hydroxylase deficiency have the salt-wasting type. Hormone production is extremely low in this form of the disorder. Affected individuals lose large amounts of sodium in their urine, which can be life-threatening in early infancy. Babies with the salt-wasting type can experience poor feeding, weight loss, dehydration, and vomiting. Individuals with the simple virilizing form do not experience salt loss.In both the salt-wasting and simple virilizing forms of this disorder, females typically have external genitalia that do not look clearly male or female (ambiguous genitalia). Males usually have normal genitalia, but the testes may be small.Females with the non-classic type of 21-hydroxylase deficiency have normal female genitalia. As affected females get older, they may experience hirsutism, male pattern baldness, irregular menstruation, and decreased fertility. Males with the non-classic type may have early beard growth and small testes. Some individuals with this type of 21-hydroxylase deficiency have no symptoms of the disorder.

Different Conditions

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46, XX disorders of sex development

Congenital adrenal hyperplasia (CAH) refers to a group of diseases associated with either complete (classical form) or partial (non-classical) anomalies in the biosynthesis of adrenal hormones. The disease is characterized by insufficient production of cortisol, or of aldosterone (classical form with salt wasting), associated with overproduction of adrenal androgens. In the classical form, metabolic decompensation (dehydration with hyponatremia, hyperkalemia and acidosis associated with mineralocorticoid deficiency, and hypoglycemia associated with glucocorticoid deficiency) may be life-threatening from the neonatal period onwards. Genital anomalies may be noted at birth in affected females.

Additional Information

Congenital adrenal hyperplasia (CAH) refers to a group of diseases associated with either complete (classical form) or partial (non-classical) anomalies in the biosynthesis of adrenal hormones. The prevalence of the classical form associated with 21-hydroxylase deficiency has been estimated at 1/14,000. However, the non-classical forms are more common. The disease is characterized by insufficient production of cortisol, or of aldosterone (classical form with salt wasting), associated with overproduction of adrenal androgens. In the classical form, metabolic decompensation (dehydration with hyponatremia, hyperkalemia and acidosis associated with mineralocorticoid deficiency, and hypoglycemia associated with glucocorticoid deficiency) may be life-threatening from the neonatal period onwards. Genital anomalies may be noted at birth in affected females. Chronic hyperandrogenism may lead to accelerated growth during childhood, but advanced bone maturation may lead to a deficit in final height. Adults tend to be overweight and metabolic disturbances, bone anomalies and fertility problems may also be present. Non-classical forms are associated with later onset, during the peri- or postpubertal period, and manifest with signs of hyperandrogenism (acne, hirsutism, menstrual problems and infertility). CAH is transmitted as an autosomal recessive trait. The most common form (accounting for 95% of cases) results from 21-hydroxylase deficiency. Other causes of CAH include deficiencies of 11-hydroxylase, 3-beta-hydroxysteroid dehydrogenase or 17-alpha-hydroxylase. Newborn screening for 21-hydroxylase deficiency (classical form) has been established in many countries and is based on measurement of 17-hydroxyprogesterone levels. Identification of an index case should lead to testing of all family members and relatives. Prenatal diagnosis is possible through molecular analysis of fetal DNA and allows treatment to be established for preventing virilization in affected females. Life-long hormone replacement therapy (gluco- and mineralocorticoids for the classical forms with salt wasting, and glucocorticoids for the simple virilizing forms) requires close follow-up (pediatric through to adulthood) and has improved the prognosis for patients by preventing complications associated with chronic hyperandrogenism and allowing normal fertility. Genital anomalies in females may require surgical intervention(s).

Organ Affected

Genital (qualifier value)|Adrenal structure (body structure)|Entire adrenal gland (body structure)

Causes

enzyme deficiency

Also Known As

  • Congenital adrenogenital disorders associated with enzyme deficiency
  • congenital adrenal cortical hyperplasia
  • congenital adrenal gland hyperplasia
  • congenital adrenogenital syndrome
  • congenital hyperadrenocorticism
  • congenital adrenogenitalism
  • congenital female adrenal pseudohermaphroditism
  • Related ICD 10 COde
    ICD 10 Code E25.0

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    Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, classic form

    This refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). This diagnosis is due to 21-hydroxylase deficiency, classic form, salt wasting.
    Related ICD 10 COde
    ICD 10 Code E25.0

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    Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

    This refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). This diagnosis is due to 21-hydroxylase deficiency, classic form.

    Also Known As

  • Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt-losing
  • Related ICD 10 COde
    ICD 10 Code E25.0

    ----------------------

    Congenital adrenal hyperplasia

    This refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). This diagnosis is due to 21-hydroxylase deficiency.
    Related ICD 10 COde
    ICD 10 Code E25.0

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    Congenital adrenal hypoplasia

    This refers to an autosomal recessive congenital underdevelopment or incomplete development of a tissue or organ.
    Related ICD 10 COde
    ICD 10 Code Q89.1

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    Abbreviated Terms

  • Congenital absence of adrenal gland
  • Agenesis of adrenal gland
  • Aplasia of adrenal gland
  • Congenital adrenal glandular absence
  • Also Known As

  • congenital adrenal gland hypoplasia
  • cah - congenital adrenal hypoplasia
  • adrenal; hypoplasia
  • Congenital small adrenal gland
  • Related ICD 10 COde
    ICD 10 Code Q89.1

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    Congenital lipoid adrenal hyperplasia due to STAR deficiency

    This is an endocrine disorder that is an uncommon and potentially lethal form of congenital adrenal hyperplasia (CAH). This diagnosis is due to STAR deficiency, classic form.
    Related ICD 10 COde
    ICD 10 Code E25.0

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    Structural developmental anomalies

    A deformation established before birth of an anatomical structure of the adrenal glands.

    Organ Affected

    Adrenal structure (body structure)|Entire adrenal gland (body structure)

    Abbreviated Terms

  • Accessory adrenal gland
  • Congenital cyst of adrenal gland
  • Congenital malposition of adrenal gland
  • Supernumerary adrenal gland
  • accessory adrenal glandular
  • adrenal glandular anomaly
  • ectopic adrenal gland
  • congenital adrenal malposition
  • displacement of adrenal gland
  • Also Known As

  • adrenal anomaly
  • adrenal gland anomaly
  • congenital anomaly of adrenal gland
  • congenital malformation of adrenal gland
  • aberrant adrenal glandular
  • aberrant adrenal gland
  • adrenal deformity
  • deformity of adrenal gland
  • Related ICD 10 COde
    ICD 10 Code Q89.1

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