HSD17B14
hsd17b14: An In-Depth Exploration of Its Role in Metabolism and Disease
Description
hsd17b14, also known as hydroxysteroid 17-beta dehydrogenase 14, is an enzyme that plays a crucial role in the metabolism of various steroids, including sex hormones and cortisol. It is primarily expressed in the liver, where it participates in the inactivation of steroids through an oxidation-reduction reaction.
Associated Diseases
Mutations or dysregulations in hsd17b14 have been linked to several diseases, including:
- Premature Pubarche: Early onset of puberty in children due to increased production of sex hormones, which can be caused by hsd17b14 mutations that enhance enzyme activity.
- Central Precocious Puberty: A condition characterized by the development of secondary sexual characteristics at an unusually young age, often associated with increased cortisol levels and hsd17b14 deficiency.
- Congenital Adrenal Hyperplasia: A group of disorders resulting in impaired hormone production by the adrenal glands, which can be caused by mutations in hsd17b14 or other enzymes involved in steroid synthesis.
- Polycystic Ovary Syndrome (PCOS): A hormonal disorder in women leading to irregular menstrual cycles, infertility, and increased risk of metabolic complications, which may be associated with hsd17b14 dysregulation.
Did you Know ?
Research has shown that mutations in the hsd17b14 gene account for approximately 1-2% of cases of central precocious puberty in children.
