Inborn errors of steroid metabolism

Inborn error of steroid metabolism
File:Steroidogenesis.svg
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An inborn error of steroid metabolism is an inborn error of metabolism due to defects in steroid metabolism.

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, as well as other metabolic reactions

Androgen- and estrogen-specific

• Isolated 17,20-lyase deficiency: prevents androgen and estrogen synthesis
  • 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:

• 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,<ref name="pmid14714589">,

 Clinical and molecular genetics of the human GnRH receptor, 
 Human Reproduction Update, 
 2003,
 Vol. 9(Issue: 6),
 pp. 523–30,
 DOI: 10.1093/humupd/dmg040,
 PMID: 14714589,
 
 
 Full text,</ref> and only one of the FSH receptor has been described, which presented as asymptomatic.<ref name="NieschlagBehre2009">, 
  
 Andrology: Male Reproductive Health and Dysfunction. online version, 
  
 Springer, 
  
  
  
 ISBN 978-3-540-78354-1,</ref><ref name="Sperling2008">{{{last}}}, 
 Mark A. Sperling, 
  
 Pediatric Endocrinology E-Book. online version, 
  
 Elsevier Health Sciences, 
  
  
  
 ISBN 978-1-4377-1109-7,</ref>

See also

References

Further reading

• ,

 The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders, 
 Endocrine Reviews, 
 
 Vol. 32(Issue: 1),
 pp. 81–151,
 DOI: 10.1210/er.2010-0013,
 PMID: 21051590,
 PMC: 3365799,
 
 Full text,

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