title: Molecular diagnosis of 5α-reductase deficiency in 4 elite young female athletes through hormonal screening for hyperandrogenism.
abstract: BACKGROUND
  Although a rare occurrence, previously undiagnosed disorders of sex development (DSD) with hyperandrogenism are sometimes detected by hormonal screening during the international sports competitions. Identifying the cause of XY,DSD raises medical and ethical concerns, especially with regard to issues of the eligibility to compete.
  
  
  OBJECTIVE
  The aim of this study was to determine whether the detection of high plasma T in young elite female athletes during hormonal screening would reveal an unsuspected XY DSD.
  
  
  METHODS
  The study was performed in the Nice and Montpellier University Hospitals (France), which collaborate as reference centers for DSD in elite athletes on behalf of sports governing bodies.
  
  
  METHODS
  Four cases of elite young athletes with female phenotypes but high plasma T detected during hormonal screening were investigated for undiagnosed XY DSD.
  
  
  METHODS
  Evaluation of clinical, biological, radiological (magnetic resonance imaging and dual-energy x-ray absorptiometry) and genetic characteristics was conducted.
  
  
  RESULTS
  The 4 athletes presented as tall, slim, muscular women with a male bone morphotype, no breast development, clitoromegaly, partial or complete labial fusion, and inguinal/intralabial testes. All reported primary amenorrhea. The hormonal analysis evidenced plasma T within the male range, the karyotype was 46, XY, and molecular analysis of the 5α-reductase type 2 (srd5A2) gene identified a homozygotic mutation in 2 cases, a heterozygotic compound in 1 case, and a deletion in 1 case.
  
  
  CONCLUSIONS
  5α-Reductase deficiency should be investigated in elite young female athletes with primary amenorrhea and high male T levels detected during antidoping programs to identify undiagnosed XY DSD.
authors: Department of Reproductive Endocrinology and Institut National de la Santé et de la Recherche Médicale Unité 1065, Hospital of L'Archet, 06200 Nice, France. fenichel.p@chu-nice.fr
authors: Patrick
authors: P
authors: Fénichel
authors: Françoise
authors: F
authors: Paris
authors: Pascal
authors: P
authors: Philibert
authors: Sylvie
authors: S
authors: Hiéronimus
authors: Laura
authors: L
authors: Gaspari
authors: Jean-Yves
authors: JY
authors: Kurzenne
authors: Patrick
authors: P
authors: Chevallier
authors: Stéphane
authors: S
authors: Bermon
authors: Nicolas
authors: N
authors: Chevalier
authors: Charles
authors: C
authors: Sultan
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D056352:Athletes; D012734:Disorders of Sex Development / Q000235:genetics*; D006801:Humans; D017588:Hyperandrogenism / Q000175:diagnosis*; D008565:Membrane Proteins / Q000172:deficiency* / Q000235:genetics; D009154:Mutation; D013739:Testosterone / Q000097:blood*; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; D013739:Testosterone; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase; C548468:SRD5A2 protein, human