3-beta-hydroxysteroid dehydrogenase deficiency

3-beta (?)-hydroxysteroid dehydrogenase (HSD) deficiency is an inherited disorder that affects hormone-producing glands including the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones and control salt levels in the body. People with 3?-HSD deficiency lack many of the hormones that are made in these glands. 3?-HSD deficiency is one of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development and maturation.There are three types of 3?-HSD deficiency: the salt-wasting, non-salt-wasting, and non-classic types. In the salt-wasting type, hormone production is extremely low. Individuals with this type lose large amounts of sodium in their urine, which can be life-threatening. Individuals affected with the salt-wasting type are usually diagnosed soon after birth due to complications related to a lack of salt reabsorption, including dehydration, poor feeding, and vomiting. People with the non-salt-wasting type of 3?-HSD deficiency produce enough hormone to allow sodium reabsorption in the kidneys. Individuals with the non-classic type have the mildest symptoms and do not experience salt wasting.In males with any type of 3?-HSD deficiency, problems with male sex hormones lead to abnormalities of the external genitalia. These abnormalities range from having the opening of the urethra on the underside of the penis (hypospadias) to having external genitalia that do not look clearly male or female (ambiguous genitalia). The severity of the genital abnormality does not consistently depend on the type of the condition. Because of the hormone dysfunction in the testes, males with 3?-HSD deficiency are frequently unable to have biological children (infertile).Females with 3?-HSD deficiency may have slight abnormalities of the external genitalia at birth. Females affected with the non-salt-wasting or non-classic types are typically not diagnosed until mid-childhood or puberty, when they may experience irregular menstruation, premature pubic hair growth, and excessive body hair growth (hirsutism). Females with 3?-HSD deficiency have difficulty conceiving a child (impaired fertility).

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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