Androgens and male physiology the syndrome of 5α-reductase-2 deficiency

@article{ImperatoMcGinley2002AndrogensAM,
  title={Androgens and male physiology the syndrome of 5$\alpha$-reductase-2 deficiency},
  author={Julianne Imperato-McGinley and Y. S. Zhu},
  journal={Molecular and Cellular Endocrinology},
  year={2002},
  volume={198},
  pages={51-59}
}

5α-Reductase Isozymes in the Prostate.

The analyses of 5α-reductases in humans and animals highlight the differences between testosterone and DHT, and the significance of DHT in male sexual differentiation and prostate physiology and pathophysiology.

5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review

An extensive search in various databases and to select those articles with a comprehensive genotype and phenotype description of the patients, it was possible to objectively compare the eventual genotype-phenotype correlation between them and showed that for most of the studied mutations no correlation can be established.

Practical approach to steroid 5alpha-reductase type 2 deficiency

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It is concluded that steroid 5α-RD2 should be included in the differential diagnosis of newborns with 46,XY DSD, and it is important that the diagnosis be made in infancy by biochemical and molecular studies before gender assignment or any surgical intervention.

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This review describes the basic biochemical properties, functions, tissue distribution, chromosomal location, and clinical significance of the 5 alpha-reductase isozyme family.

Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide

5ARD2 deficiency has a worldwide distribution and influenced on sex assignment, favoring male sex assignment in newborns with 5α-reductase type 2 deficiency, and gender change was significantly different across the countries.

5-alpha Reductase Deficiency in Two Siblings: A Case Report

Any individual presenting with ambiguous genitalia, primary amenorrhea or virilization should be investigated for 5-alpha reductase deficiency by conducting a karyotype and full hormone profile.

Novel Genotype in Two Siblings with 5-α-reductase 2 Deficiency: Different Clinical Course due to the Time of Diagnosis

Two siblings with female external genitalia at birth and bilateral inguinal testes, raised as females with a variable genital phenotype are presented and genetic analysis is useful for the diagnosis and timely gender assignment in patients with 5-ARD.

5α‐Reductase Isozymes and Androgen Actions in the Prostate

The studies of 5α‐reductases and androgen actions highlight the importance of 5 α‐reductionase isozymes in male sexual differentiation and prostate physiology and pathophysiology.
...

References

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Deletion of steroid 5α-reductase 2 gene in male pseudohermaphroditism

The results verify the existence of at least two 5α-reductases in man and provide insight into a fundamental hormone-mediated event in male sexual differentiation.

The biochemical and phenotypic characterization of females homozygous for 5 alpha-reductase-2 deficiency.

Females with 5 alpha-reductase-2 deficiency highlight a role for DHT in hirsutism and/or menstrual disorders, and the importance of D HT in the physiology and pathophysiology of body hair growth.

Natural potent androgens: lessons from human genetic models.

The Molecular Basis of Steroid 5α-Reductase Deficiency in a Large Dominican Kindred

During puberty, the affected boys undergo various degrees of virilization, and the most common defect is a urogenital sinus with a blind vaginal pouch.

Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression.

Results are consistent with 5 alpha-reductase type 1 being responsible for virilization in type 2-deficient subjects during puberty, and suggest that the type 2 isozyme may be an initiating factor in development of male pattern baldness.

Male pseudohermaphroditism due to steroid 5alpha-reductase 2 deficiency. Diagnosis, psychological evaluation, and management.

Sixteen subjects (from 10 Brazilian families) with male pseudohermaphroditism due to steroid 5alpha-reductase 2 deficiency have been evaluated in 1 clinic, with results indicating limited growth of the prostate and penis and increase in body and facial hair and enhancement of libido and sexual performance.

Steroid 5 alpha-reductase deficiency in a 65-year-old male pseudohermaphrodite: the natural history, ultrastructure of the testes, and evidence for inherited enzyme heterogeneity.

We report a 65-yr-old male pseudohermaphrodite with steroid 5 alpha-reductase deficiency in whom there was no medical intervention before, during, or after puberty, enabling us to observe the natural

Molecular genetics of steroid 5 alpha-reductase 2 deficiency.

Molecular analysis of the SRD5A2 gene resulted in the identification of 18 mutations in 11 homozygote, 6 compound heterozygotes, and 4 inferred compoundheterozygotes from 23 families with 5 alpha-reductase deficiency, suggesting that the carrier frequency of mutations in the 5alpha- reductase type 2 gene may be higher than previously thought.

Dihydrotestosterone regulation of semen in male pseudohermaphrodites with 5 alpha-reductase-2 deficiency.

The finding of normal sperm concentrations in two subjects with 5 alpha-reductase-2 deficiency suggests that DHT does not play a major role in spermatogenesis, and the possibility that low levels of DHT might be sufficient for normal sperMatogenesis must also be considered.
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