Steroid 5α-Reductase Deficiency in Man: An Inherited Form of Male Pseudohermaphroditism

@article{ImperatoMcGinley1974Steroid5D,
  title={Steroid 5$\alpha$-Reductase Deficiency in Man: An Inherited Form of Male Pseudohermaphroditism},
  author={Julianne Imperato-McGinley and L. Julianne Guerrero and Teofilo Gautier and Ralph E. Peterson},
  journal={Science},
  year={1974},
  volume={186},
  pages={1213 - 1215}
}
In male pseudohermaphrodites born with ambiguity of the external genitalia but with marked virilization at puberty, biochemical evaluation reveals a marked decrease in plasma dihydrotestosterone secondary to a decrease in steroid 5α-reductase activity. In utero the decrease in dihydrotestosterone results in incomplete masculinization of the external genitalia. Inheritance is autosomal recessive. 
5-alpha-Reductase deficiency causing male pseudohermaphroditism.
TLDR
An infant with male pseudohermaphroditism due to deficiency of 5-alpha-reductase is described, the elder of two affected male siblings from Pakistan, the first to be described outside America. Expand
The Molecular Basis of Steroid 5α-Reductase Deficiency in a Large Dominican Kindred
TLDR
During puberty, the affected boys undergo various degrees of virilization, and the most common defect is a urogenital sinus with a blind vaginal pouch. Expand
Male Pseudohermaphroditism Due to Abnormal Testosterone Biosynthesis and Metabolism
TLDR
The purpose of this chapter is to describe enzymatic deficiencies of testosterone synthesis and metabolism resulting in male pseudohermaphroditism. Expand
Inherited 5α-reductase deficiency in man
TLDR
Study of the syndrome of 5α-reductase deficiency in man has elucidated the importance of testosterone conversion to dihydrotestosterone in sexual differentiation of the male fetus, as well as a role for androgens in male gender identity formation. Expand
Choice of Gender in 5α-Reductase Deficiency: A Moving Target
TLDR
This case demonstrates that in patients with disorders such as 5alpha-reductase deficiency, in which significant prenatal androgen exposures are combined with postnatal virilization, adult gender identity and gender role may be a dynamic process that is not complete until well after adolescence. Expand
Paternity by Intrauterine Insemination with Sperm from a Man with 5α-Reductase-2 Deficiency
TLDR
Male pseudohermaphroditism results from the abnormal differentiation of male external genitalia in a genotypic male with distinct urethral and vaginal openings within a urogenital sinus and a clitoris-like phallus. Expand
Alpha Reductase Deciency : A Review of Five Cases Diagnosed with Ambiguous Genitalia 5
In peripheral tissues, 5-alpha reductase enzyme converts testosterone into dihydrotestosterone (DHT). DHT is a more potent hormone as compared to testosterone. It is the main hormone which inducesExpand
Reprint of “Steroid 5α-reductase 2 deficiency”
TLDR
Fertility can be achieved in some affected males with assisted reproduction techniques, and adults with male social sex report a more satisfactory sex life and quality of life as compared to affected individuals with female social sex. Expand
Steroid 5α-reductase 2 deficiency
TLDR
Fertility can be achieved in some affected males with assisted reproduction techniques, and adults with male social sex report a more satisfactory sex life and quality of life as compared to affected individuals with female social sex. Expand
5-Alpha-Reductase 2 Deficiency in a Woman with Primary Amenorrhea
TLDR
The diagnosis of 5-alpha-reductase 2 deficiency may be suspected in infants with ambiguous genitalia or in adolescents or young adults with the characteristic phenotype and serum hormone profiles. Expand
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 13 REFERENCES
The source of plasma dihydrotestosterone in man.
  • T. Ito, R. Horton
  • Chemistry, Medicine
  • The Journal of clinical investigation
  • 1971
TLDR
It is suggested that dihydrotestosterone in the blood does not arise from direct secretion but may reflect events occurring in peripheral androgen target tissues. Expand
Testosterone formation and metabolism during male sexual differentiation in the human embryo.
TLDR
It was concluded that testosterone is the principal androgen formed by the fetal testis at the time of male sexual differentiation. Expand
In vitro synthesis of müllerian-inhibiting hormone by seminiferous tubules isolated from the calf fetal testis.
  • N. Josso
  • Biology, Medicine
  • Endocrinology
  • 1973
TLDR
Fetal calf testicular tissue was submitted to microdissection and the possibility that the mullerian-inhibiting hormone is produced by the fetal Sertoli cells is suggested. Expand
Copulation in Castrated Male Rats following Combined Treatment with Estradiol and Dihydrotestosterone
Castrated male rats injected daily with 2 micrograms of estradiol benzoate (EB) combined with 200 micrograms of dihydrotestosterone propionate (DHTP) displayed masculine mating behavior which wasExpand
Measurement of testosterone and 17-ketosteroids in plasma by the double isotope dilution derivative technique.
Abstract A double isotope derivative technique using 14C indicator and 3H-acetic anhydride to estimate testosterone, androstenedione, dehydroepiandrosterone, androsterone, etiocholanolone andExpand
Protein measurement with the Folin phenol reagent.
TLDR
Procedures are described for measuring protein in solution or after precipitation with acids or other agents, and for the determination of as little as 0.2 gamma of protein. Expand
Atuguist 1974: icvised I Noveinlbet
  • 1974
Endoc-rintol
  • Metab
  • 1974
Steroid pathways in sebaceous glands.
paper presented at the imieeting of the Society for Clinical Investigation, Atlantic City
  • 1974
...
1
2
...