17-Beta Hydroxysteroid Dehydrogenase III Deficiency


Defects in 17-beta hydroxysteroid dehydrogenase III (HSD17B3) are the cause of male pseudohermaphrodism with gynecomastia. These individuals have unambiguous female external genitalia at birth, but fail to menstruate at the time of expected puberty and instead virilize as evidenced by growth of the phallus. A defect in HSD17B3 causes accumulation of dehydroepiandrosterone (DHA), and dehydroepiandrosterone sulfate (DHAS) as well as androstenedione in plasma.

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References

  1. OMIM: Entry 264300
  2. Uniprot: P37058
  3. Andersson S, Geissler WM, Wu L, Davis DL, Grumbach MM, New MI, Schwarz HP, Blethen SL, Mendonca BB, Bloise W, Witchel SF, Cutler GB Jr, Griffin JE, Wilson JD, Russel DW: Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab. 1996 Jan;81(1):130-6. Pubmed
  4. Boehmer AL, Brinkmann AO, Sandkuijl LA, Halley DJ, Niermeijer MF, Andersson S, de Jong FH, Kayserili H, de Vroede MA, Otten BJ, Rouwe CW, Mendonca BB, Rodrigues C, Bode HH, de Ruiter PE, Delemarre-van de Waal HA, Drop SL: 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. J Clin Endocrinol Metab. 1999 Dec;84(12):4713-21. Pubmed
  5. Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB, Elliston KO, Wilson JD, Russell DW, Andersson S: Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. Nat Genet. 1994 May;7(1):34-9. Pubmed
  6. Imperato-McGinley J, Peterson RE, Stoller R, Goodwin WE: Male pseudohermaphroditism secondary to 17 beta-hydroxysteroid dehydrogenase deficiency: gender role change with puberty. J Clin Endocrinol Metab. 1979 Sep;49(3):391-5. Pubmed