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Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team

DOI: 10.1155/2010/919707

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Abstract:

A child with a disorder of sexual differentiation (DSD) poses a variety of challenges for the treating physician as well as for the parents and family. Although appropriate management has long been a matter of concern and often contention, no clinical practice guidelines have been established to help physicians inform parents and implement management approaches in a standardized fashion [1–8]. Our aim was to develop practice guidelines for managing DSD and for making sex assignments. Accordingly, we formed a Gender Medicine Team (GMT) task force, comprised of experts in the fields of endocrinology, ethics, genetics, gynecology, psychology, and urology, to evaluate the information available from our own experience and from a review of the literature. We utilized the Grading of Recommendation, Assessment, Development, and Evaluation (GRADE) system to grade the evidence and recommendations. With the review and recommendations offered by our task force, we developed a consensus statement for clinical management of DSD and for making sex assignments.The GMT task force first identified four clinically relevant questions to be answered from the evidence. These questions were the following.Question 1.What constituted the most appropriate evaluation for infants with ambiguous genitalia or a DSD? This question was divided into the following subquestions.What is the appropriate evaluation for CAH?What is the most appropriate way to assess the hypothalamic pituitary gonadal axis in the context of ambiguous genitalia or hypothalamic pituitary hypogonadism?What is the most appropriate evaluation for micropenis and for undescended testes for the evaluation of primary hypogonadism most likely in the context of dysgenetic testes?What is the most appropriate evaluation for peripheral defects leading to micropenis, hypospadias with respect to[1, 2]the action of testosterone which could be in the context of(a)5 alpha-reductase deficiency or(b)biochemical and molecular genetic testing f

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