title: Pubertal Development in 17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency .
abstract: BACKGROUND
  17β-hydroxysteroid dehydrogenase (17β-HSD) type 3 deficiency is an autosomal recessive disorder with diminished testosterone synthesis and consequently underandrogenisation. 46,XY patients with 17β-HSD type 3 deficiency are often assigned a female sex at birth but have a high virilisation potential at the time of puberty.
  
  
  METHODS
  We studied four 46,XY patients with 17β-HSD type 3 deficiency at puberty with regard to the underlying mutations, the hormone values, and the clinical findings.
  
  
  RESULTS
  Three patients were initially assigned a female sex and 1 was assigned a male sex. All had relevant mutations in the HSD17B3 gene. The 2 patients with deleterious mutations had lower testosterone values at the time of puberty than the patients with possible residual activity of 17β-HSD type 3. One of the latter patients changed to male gender.
  
  
  CONCLUSIONS
  All 4 patients with 17β-HSD type 3 deficiency synthesized relevant amounts (>0.7 µg/L) of testosterone at puberty, which lead to variable androgenisation. In patients with presumable residual activity of the mutated enzyme, testosterone values in the male reference range can be achieved, thereby inducing male pubertal development. These patients should possibly be assigned a male sex. Any surgical intervention should be avoided until the patients are old enough to consider their options of medical and surgical intervention. .
authors.affiliation: Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of Lübeck, Lübeck, Germany.
authors.forename: Olaf
authors.initials: O
authors.lastname: Hiort
authors.affiliation: Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of Lübeck, Lübeck, Germany.
authors.forename: Louise
authors.initials: L
authors.lastname: Marshall
authors.affiliation: Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of Lübeck, Lübeck, Germany.
authors.forename: Wiebke
authors.initials: W
authors.lastname: Birnbaum
authors.affiliation: Department of Paediatric Surgery, University of Lübeck, Lübeck, Germany.
authors.forename: Lutz
authors.initials: L
authors.lastname: Wünsch
authors.affiliation: Department of General Paediatrics, University of Kiel, Kiel, Germany.
authors.forename: Paul-Martin
authors.initials: PM
authors.lastname: Holterhus
authors.affiliation: Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of Lübeck, Lübeck, Germany.
authors.forename: Ulla
authors.initials: U
authors.lastname: Döhnert
authors.affiliation: Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of Lübeck, Lübeck, Germany.
authors.forename: Ralf
authors.initials: R
authors.lastname: Werner
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D000293:Adolescent; D058490:Disorder of Sex Development, 46,XY / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006177:Gynecomastia / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008297:Male; D009154:Mutation; D011627:Puberty; D043202:Steroid Metabolism, Inborn Errors / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D014770:Virilism / Q000235:genetics / Q000473:pathology / Q000503:physiopathology
chemical_list: D015067:17-Hydroxysteroid Dehydrogenases; C476565:17beta-hydroxysteroid dehydrogenase type 3
keywords: 17β-hydroxysteroid dehydrogenase deficiency; Puberty; Sex development; Testosterone synthesis 