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

  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},
  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.

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.

Male pseudohermaphroditism due to 5α-reductase deficiency in a Swedish family

Three sibs with an inherited form of male pseudohermaphroditism with ambiguous external genitalia were investigated in order to establish the pathogenetic nature of the disorder.

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.

Male Pseudohermaphroditism Due to Abnormal Testosterone Biosynthesis and Metabolism

The purpose of this chapter is to describe enzymatic deficiencies of testosterone synthesis and metabolism resulting in male pseudohermaphroditism.

Choice of Gender in 5α-Reductase Deficiency: A Moving Target

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.

Paternity by Intrauterine Insemination with Sperm from a Man with 5α-Reductase-2 Deficiency

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.

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), which is the main hormone which induces the process of masculinity in the male fetus, in the maternal womb and enables the development of external genitalia.

Reprint of “Steroid 5α-reductase 2 deficiency”

Male pseudohermaphroditism: diagnosis in cell culture.

In four patients with the typical phenotype of testicular feminization, a severe deficit of specific androgen-binding activity was detected in cultured fibroblasts from labium majus skin, improving the differential diagnosis in patients with complete or imcomplete male pseudohermaphroditism before puberty.



The source of plasma dihydrotestosterone in man.

  • T. ItoR. Horton
  • Biology, Medicine
    The Journal of clinical investigation
  • 1971
It is suggested that dihydrotestosterone in the blood does not arise from direct secretion but may reflect events occurring in peripheral androgen target tissues.

Testosterone formation and metabolism during male sexual differentiation in the human embryo.

It was concluded that testosterone is the principal androgen formed by the fetal testis at the time of male sexual differentiation.

In vitro synthesis of müllerian-inhibiting hormone by seminiferous tubules isolated from the calf fetal testis.

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.

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 was

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 and

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Recent Prcogr

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paper presented at the imieeting of the Society for Clinical Investigation, Atlantic City

  • 1974

Aided in part by NIH training grant AM 5250

  • PHS research career award K6-AM