The correct diagnosis of a child with a disorder of sex development (DSD) is crucial and can be life-saving. The most challenging situation for the pediatric endocrinologist and for the parents occurs when the sex cannot be determined at birth. A UK task force has now published novel guidelines that delineate the complex program needed for an initial diagnosis.
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References
Faisal Ahmed, S. et al. UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development. Clin. Endocrinol. (Oxf.) doi: 10.1111/j.1365–22652011.04076.x.
Lee, P. A., Houk, C. P., Ahmed, S. F. & Hughes, I. A. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 118, e488–e500 (2006).
Aksglæde, L. et al. Changes in anti-Müllerian hormone (AMH) throughout the life span: a population-based study of 1027 healthy males from birth (cord blood) to the age of 69 years. J. Clin. Endocrinol. Metab. 95, 5357–5364 (2010).
Hagen, C. P. et al. Serum levels of anti-Müllerian hormone as a marker of ovarian function in 926 healthy females from birth to adulthood and in 172 Turner syndrome patients. J. Clin. Endocrinol. Metab. 95, 5003–5010 (2010).
Bashamboo, A. et al. Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am. J. Hum. Genet. 87, 505–512 (2010).
Köhler, B. & Achermann, J. C. Update—steroidogenic factor 1 (SF-1, NR5A1). Minerva Endocrinol. 35, 73–86 (2010).
Welsh, M. et al. Identification in rats of a programming window for reproductive tract masculinization, disruption of which leads to hypospadias and cryptorchidism. J. Clin. Invest. 118, 1479–1490 (2008).
Skakkebæk, N. E., Rajpert-De Meyts, E. & Main, K. M. Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects. Hum. Reprod. 16, 972–978 (2001).
Johannsen, T. H., Ripa, C. P., Mortensen, E. L. & Main, K. M. Quality of life in 70 women with disorders of sex development. Eur. J. Endocrinol. 155, 877–885 (2006).
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Juul, A., Main, K. & Skakkebaek, N. Disorders of sex development—the tip of the iceberg?. Nat Rev Endocrinol 7, 504–505 (2011). https://doi.org/10.1038/nrendo.2011.115
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DOI: https://doi.org/10.1038/nrendo.2011.115
