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Steroid 5α-reductase 2 deficiency.

Berenice B Mendonca1, Rafael Loch Batista1, Sorahia Domenice1

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Summary
This summary is machine-generated.

5α-reductase type 2 deficiency, a genetic disorder affecting 46,XY individuals, leads to ambiguous genitalia at birth but male internal development. Pubertal virilization often results in male gender identity and improved quality of life.

Keywords:
Ambiguous genitaliaAndrogen actionDihydrotestosteroneDisorders of sexual differentiation (DSD)Gender identity/behavior

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Area of Science:

  • Endocrinology
  • Genetics
  • Reproductive Medicine

Background:

  • Dihydrotestosterone (DHT) is a crucial androgen metabolite derived from testosterone via 5α-reductase isoenzymes.
  • Mutations in the 5α-reductase type 2 gene cause a specific disorder of 46,XY sex development, recognized for forty years.
  • Numerous mutations have been identified across diverse ethnic populations.

Purpose of the Study:

  • To review the clinical and genetic aspects of 5α-reductase type 2 deficiency.
  • To analyze the developmental trajectory and long-term outcomes in affected individuals.
  • To explore the impact of social sex assignment on quality of life.

Main Methods:

  • Literature review of reported mutations and clinical cases.
  • Analysis of phenotypic presentations in 46,XY individuals with 5α-reductase type 2 deficiency.
  • Review of studies on puberty, fertility, and psychosocial outcomes.

Main Results:

  • Affected 46,XY individuals typically present with female external genitalia but possess male internal reproductive tracts (Mullerian ducts regress).
  • Despite initial assignment to female sex, most individuals undergo significant virilization at puberty, frequently developing a male social sex identity.
  • Fertility is achievable through assisted reproduction, and individuals with male social sex report better quality of life and sexual satisfaction.

Conclusions:

  • 5α-reductase type 2 deficiency highlights the critical role of DHT in male sexual differentiation.
  • The study underscores the potential for pubertal virilization to influence gender identity and psychosocial well-being.
  • Management strategies should consider the potential for male development and the benefits of male social sex assignment for quality of life.