Molecular Diagnosis of 5α-Reductase Deficiency in 4 Elite Young Female Athletes Through Hormonal Screening for Hyperandrogenism

Fénichel, Patrick; Paris, Florentin; Philibert, Pascal; Hiéronimus, S.; Gaspari, Laura; Kurzenne, J.Y.; Chevallier, P.; Bermon, Stéphane; Chevalier, Nicolas; Sultan, Charles

doi:10.1210/jc.2012-3893

Cited by 69 publications

(45 citation statements)

References 14 publications

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“…Of particular interest, the eight cases had heights ranging from 167 to 184 cm with a mean of 175 cm, all close to the normal male range (174.7 cm, SD 6.7) but not outside the female range for height [4]. The athlete with 5a-reductase deficiency was 184 cm in height; others with the same condition are also known to be tall [24].…”

Section: Natural Selection For Genetic Variants: Stature and Athleticmentioning

confidence: 98%

Natural Selection for Genetic Variants in Sport: The Role of Y Chromosome Genes in Elite Female Athletes with 46,XY DSD

Ferguson-Smith

Bavington

2014

Sports Med

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At present, it is widely assumed that hyperandrogenism in female athletes confers an unfair competitive advantage. This view is perpetuated in current regulations governing eligibility of female athletes with hyperandrogenism to compete, which identify testosterone levels in the male range as the critical factor. Detailed evidence is presented here for the first time that genes for stature (and possibly other genes) on the Y chromosome are responsible for the increased frequency of 46,XY disorder of sex development (46,XY DSD) among elite female athletes identified by eligibility tests. In many cases, androgens are non-functional or, alternatively, absent and therefore testosterone cannot be responsible for their athletic success. Genetic variation has a major role in the selection of individuals for training and success in competition; however, this variation is not grounds for determining who should compete in athletic events. There is no convincing evidence to support the view that hyperandrogenism is associated with performance advantage in female athletes. Current time-consuming regulations may lead to the unwelcome resurgence of innuendo in the media and coercion of female athletes into accepting gonadectomy and other treatments to which they might otherwise not have been subjected. These regulations should be withdrawn on the grounds that they are not supported scientifically, are discriminatory towards women and place some female athletes at risk of unnecessary and potentially harmful investigations. Improved understanding about genetic factors that lead to selection in sport should offer reassurance that women with hyperandrogenism possess no physical attribute relevant to athletic performance that is neither attainable, nor present in other women. Key PointsY genes for stature (and possibly other Y genes) are responsible for the increased frequency of 46,XY DSD among elite female athletes identified by eligibility tests.Hyperandrogenism is not associated with performance advantage in female athletes.Governing bodies in sport should withdraw their regulations on hyperandrogenism.

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Section: Natural Selection For Genetic Variants: Stature and Athleticmentioning

confidence: 98%

Natural Selection for Genetic Variants in Sport: The Role of Y Chromosome Genes in Elite Female Athletes with 46,XY DSD

Ferguson-Smith

Bavington

2014

Sports Med

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“…With the policy in place for the 2012 London Olympics, 4 women athletes, all 21-year-old or younger from “rural or mountainous regions of developing countries,” were identified as being hyperandrogenemic [60]. The IOC barred all 4 from competing and took them to France for evaluation and possible treatment [60].…”

Section: Athletes and Hyperandrogenemiamentioning

confidence: 99%

“…The IOC barred all 4 from competing and took them to France for evaluation and possible treatment [60]. While in France, the athletes underwent genital reconstructive surgery including clitoral recession and gonadectomy that “ensured” their future participation in sport, competing within the female category.…”

Section: Athletes and Hyperandrogenemiamentioning

confidence: 99%

The Interconnected Histories of Endocrinology and Eligibility in Women’s Sport

Rogol

Pieper

2018

Horm Res Paediatr

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This report illustrates the links between history, sport, endocrinology, and genetics to show the ways in which historical context is key to understanding the current conversations and controversies about who may compete in the female category in elite sport. The International Association of Athletics Federations (IAAF) introduced hyperandrogenemia regulations for women’s competitions in 2011, followed by the International Olympic Committee (IOC) for the 2012 Olympics. The policies concern female athletes who naturally produce higher-than-average levels of testosterone and want to compete in the women’s category. Hyperandrogenemia guidelines are the current effort in a long series of attempts to determine women’s eligibility scientifically. Scientific endeavors to control who may participate as a woman illustrate the impossibility of neatly classifying competitors by sex and discriminate against women with differences of sex development (also called intersex by some).

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“…Anti-doping screening using serum testosterone measurements currently mandates that levels in females be less than lower limit of normal for males. Such screening led to the diagnosis of 5α-reductase type 2 deficiency 46XY DSD in 4 elite young female athletes [15]. These and other highly publicized cases led to revisions of the competition policies set by The International Association of Athletics Federations (IAAF) and International Olympic Committee (IOC).…”

Section: Introductionmentioning

confidence: 99%

Advances in diagnosis and care of persons with DSD over the last decade

Lee

Wisniewski

Baskin

et al. 2014

Int J Pediatr Endocrinol

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It is clear that the major issues raised by the Chicago Disorders of Sex Development (DSD) Consensus meeting primarily the need of more data, especially outcome information, are still not available. Hence, there are insufficient data to merit another consensus statement. However, there has been a major shift in the thinking and approach to the care of patients with DSD. This was a consequence of the emphasis of the need to reconsider the criteria for sex assignment, to incorporate new genetic and hormonal knowledge in the care, and to investigate impact of surgical timing and techniques. Much of the reconsideration is in response to patient, family, social and legal demands, including the need for full disclosure and family or individual participation in decisions. Further, there remains a lack of sufficient information to provide predictors for future gender development. Hence, it still is impossible to develop specific clinical guidelines to apply to patients generally or individually. Thus, it is pertinent to periodically evaluate and assess some of these multifaceted changes. This report discusses cultural and social forces, legal factors, surgical perspectives, treatment shifts including psychological approaches, progress regarding genetic diagnosis, gender issue comparisons with transgender patients, and on-going research studies occurring since the consensus conference.

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Molecular Diagnosis of 5α-Reductase Deficiency in 4 Elite Young Female Athletes Through Hormonal Screening for Hyperandrogenism

Abstract: 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.

Cited by 69 publications

References 14 publications

Natural Selection for Genetic Variants in Sport: The Role of Y Chromosome Genes in Elite Female Athletes with 46,XY DSD

Natural Selection for Genetic Variants in Sport: The Role of Y Chromosome Genes in Elite Female Athletes with 46,XY DSD

The Interconnected Histories of Endocrinology and Eligibility in Women’s Sport

Advances in diagnosis and care of persons with DSD over the last decade

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