Английская Википедия:Inborn errors of steroid metabolism
Шаблон:Infobox medical condition (new)
An inborn error of steroid metabolism is an inborn error of metabolism due to defects in steroid metabolism.Шаблон:Citation needed
Types
A variety of conditions of abnormal steroidogenesis exist due to genetic mutations in the steroidogenic enzymes involved in the process, of which include:
Generalized
- 20,22-Desmolase (P450scc) deficiency: blocks production of all steroid hormones from cholesterol
- 3β-Hydroxysteroid dehydrogenase 2 deficiency: impairs progestogen and androgen metabolism; prevents the synthesis of estrogens, glucocorticoids, and mineralocorticoids; causes androgen deficiency in males and androgen excess in females
- Combined 17α-hydroxylase/17,20-lyase deficiency: impairs progestogen metabolism; prevents androgen, estrogen, and glucocorticoid synthesis; causes mineralocorticoid excess
- Cytochrome P450 oxidoreductase deficiency: prevents production of numerous but not all sex steroids,[1] as well as other metabolic reactions
Androgen- and estrogen-specific
- Isolated 17,20-lyase deficiency: prevents androgen and estrogen synthesis.[2]
- Cytochrome b5 deficiency: subtype of isolated 17,20-lyase deficiency; additionally results in elevated methemoglobin and/or methemoglobinemia
- 17β-Hydroxysteroid dehydrogenase 3 deficiency: impairs androgen and estrogen metabolism; results in androgen deficiency in males and androgen excess and estrogen deficiency in females
- 5α-Reductase 2 deficiency: prevents the conversion of testosterone to dihydrotestosterone; causes androgen deficiency in males
- Aromatase deficiency: prevents estrogen synthesis; causes androgen excess in females
- Aromatase excess: causes excessive conversion of androgens to estrogens; results in estrogen excess in both sexes and androgen deficiency in males.
Glucocorticoid- and mineralocorticoid-specific
- 21-Hydroxylase deficiency: prevents glucocorticoid and mineralocorticoid synthesis; causes androgen excess in females
- 11β-Hydroxylase 1 deficiency: impairs glucocorticoid and mineralocorticoid metabolism; causes glucocorticoid deficiency and mineralocorticoid excess as well as androgen excess in females
- 11β-Hydroxylase 2 deficiency: impairs corticosteroid metabolism; results in excessive mineralocorticoid activity
- 18-Hydroxylase deficiency: prevents mineralocorticoid synthesis; results in mineralocorticoid deficiency
- 18-Hydroxylase overactivity: impairs mineralocorticoid metabolism; results in mineralocorticoid excess
Miscellaneous
In addition, several conditions of abnormal steroidogenesis due to genetic mutations in receptors, as opposed to enzymes, also exist, including:Шаблон:Cn
- Gonadotropin-releasing hormone (GnRH) insensitivity: prevents synthesis of sex steroids by the gonads in both sexes
- Follicle-stimulating (FSH) hormone insensitivity: prevents synthesis of sex steroids by the gonads in females; merely causes problems with fertility in males
- Luteinizing hormone (LH) insensitivity: prevents synthesis of sex steroids by the gonads in males; merely causes problems with fertility in females
- Luteinizing hormone (LH) oversensitivity: causes androgen excess in males, resulting in precocious puberty; females are asymptomatic
No activating mutations of the GnRH receptor in humans have been described in the medical literature,[3] and only one of the FSH receptor has been described, which presented as asymptomatic.[4][5]
See also
References
Further reading
External links
Шаблон:Medical resources Шаблон:Defects of cholesterol and steroid metabolism Шаблон:Adrenal gland disorder
- Английская Википедия
- Adrenal gland disorders
- Cholesterol and steroid metabolism disorders
- Endocrine gonad disorders
- Genetic diseases and disorders
- Rare diseases
- Intersex variations
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