17-beta-hydroxysteroid dehydrogenase deficiency Definition

The hormones estrogen and androgen play critical roles in the development of sexual organs. 17b-hydroxysteroid dehydrogenase isozyme (17?-HSD) acts as a catalyst between the biologically inactive and active types of hormones. Any deviation from this normal process results into various abnormal conditions.

17-beta-hydroxysteroid dehydrogenase deficiency Prevalence

It is estimated in the Netherlands that 1 case in every 147,000 births show symptoms of 17b-hydroxysteroid dehydrogenase deficiency which makes this deficiency very rare.

17-beta-hydroxysteroid dehydrogenase deficiency Role

Steroid hormones have biological activities that are being regulated by some body enzymes. They are often regulated at the pre-receptor phase by such enzymes as 17 beta-hydroxysteroid dehydrogenases. These enzymes do not only regulate steroid concentrations but also bile and fatty acids in the body. The 17 beta-hydroxysteroid dehydrogenase enzyme is prevalent in all life forms (whether they are invertebrates, vertebrates or microorganisms). Malfunctions occur when this enzyme becomes deficient or imbalance in any way.

17-beta-hydroxysteroid dehydrogenase deficiency Diseases Associated with the Deficiency

The most common types of illnesses that result from 17b-hydroxysteroid dehydrogenase deficiency are cancers in various forms (ovarian, breast or prostate cancers); obesity of the upper body (prevalent among women); diabetes mellitus (the case that is not dependent on insulin); ambiguous sexual organs (females that appear to have 'penis-like' clitoris or grow up as males but are discovered later on to develop breasts or have menstrual periods). Pseudohermaphroditism in males is also known as 17-beta-hydroxysteroid dehydrogenase deficiency-3. It is one of the rarest cases of sexual development disorder. It is a condition that is autosomal recessive and is also a cause of disorders in sexual development in both the male and female species. Biochemically speaking, 17-beta-hydroxysteroid dehydrogenase deficiency-3 is characterized by lowered testosterone levels and an increase in the levels of androstenedione. This is a result of the failure in conversion to testosterone from androstenedione.

17-beta-hydroxysteroid dehydrogenase deficiency Recorded Mutations

The recorded mutations of this syndrome are now up to 16 in number. The numbers are subdivided into 12 mutations that are missense, 3 mutations on splice junction, and a single tiny deletion which becomes an untimely stop codon.

17-beta-hydroxysteroid dehydrogenase deficiency Hormonal Conditions with the Deficiency

Studies have been done to prove that pseudohermaphroditism is a result of the deficiency. It has been observed that subjects develop symptoms at puberty (either virilization or gynaecomastia). It also showed that the level of plasma androstenedione was about 4-5 times more than the normal level. The level of plasma testosterone, however, was very low when compared to the normal level.

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