17β-Hydroxysteroid dehydrogenase-3 deficiency: A rare endocrine cause of male-to-female sex reversal

@article{Bertelloni200617HydroxysteroidDD,
  title={17$\beta$-Hydroxysteroid dehydrogenase-3 deficiency: A rare endocrine cause of male-to-female sex reversal},
  author={S. Bertelloni and M. Maggio and G. Federico and G. Baroncelli and O. Hiort},
  journal={Gynecological Endocrinology},
  year={2006},
  volume={22},
  pages={488 - 494}
}
Deficiency of 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3), due to mutations in the gene encoding the enzyme, results in a rare autosomal recessive form of male-to-female sex reversal. Mutated genes encode an abnormal enzyme with absent or reduced ability to convert Δ4-androstenedione to testosterone in the testis. Affected individuals are genetically males who developed internal male Wolffian structures but female external genitalia. Such individuals are usually raised as females and… Expand
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TLDR
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TLDR
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TLDR
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TLDR
A one-year-old 46,XY patient with 17β-HSD3 deficiency who presented with female external genitalia and bilaterally palpable gonads in the inguinal region is reported. Expand
A novel missense mutation in HSD17B3 gene in a 46, XY adolescent presenting with primary amenorrhea and virilization at puberty.
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  • Biology, Medicine
  • Clinica chimica acta; international journal of clinical chemistry
  • 2015
TLDR
It is emphasized that 17β-HSD3 deficiency should be considered in virilized female patients at puberty if the T/A ratio is less than 0.8, and the molecular analysis should be performed for the precise diagnosis and genetic counseling. Expand
Isolated mild clitoral hypertrophy may reveal 46,XY disorders of sex development in infancy due to 17βHSD-3 defect confirmed by molecular analysis
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  • Biology, Medicine
  • Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
  • 2011
TLDR
A patient with a rare mutation at a critical site in HSD17B3 gene leading to deficiency of 17β HSD-3 enzyme presenting as 46,XY disorder of sex development is reported. Expand
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