Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care

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Abstract

The goal of this update regarding the diagnosis and care of persons with disorders of sex development (DSDs) is to address changes in the clinical approach since the 2005 Consensus Conference, since knowledge and viewpoints change. An effort was made to include representatives from a broad perspective including support and advocacy groups. The goal of patient care is focused upon the best possible quality of life (QoL). The field of DSD is continuously developing. An update on the clinical evaluation of infants and older individuals with ambiguous genitalia including perceptions regarding male or female assignment is discussed. Topics include biochemical and genetic assessment, the risk of germ cell tumor development, approaches to psychosocial and psychosexual well-being and an update on support groups. Open and on-going communication with patients and parents must involve full disclosure, with the recognition that, while DSD conditions are life-long, enhancement of the best possible outcome improves QoL. The evolution of diagnosis and care continues, while it is still impossible to predict gender development in an individual case with certainty. Such decisions and decisions regarding surgery during infancy that alters external genital anatomy or removes germ cells continue to carry risk.

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Clinical review: Klinefelter syndrome--a clinical update.

Kristian Groth, Anne Skakkebæk, Christian Høst … (2013)

Recently, new clinically important information regarding Klinefelter syndrome (KS) has been published. We review aspects of epidemiology, endocrinology, metabolism, body composition, and neuropsychology with reference to recent genetic discoveries. PubMed was searched for "Klinefelter," "Klinefelter's," and "XXY" in titles and abstracts. Relevant papers were obtained and reviewed, as well as other articles selected by the authors. KS is the most common sex chromosome disorder in males, affecting one in 660 men. The genetic background is the extra X-chromosome, which may be inherited from either parent. Most genes from the extra X undergo inactivation, but some escape and serve as the putative genetic cause of the syndrome. KS is severely underdiagnosed or is diagnosed late in life, roughly 25% are diagnosed, and the mean age of diagnosis is in the mid-30s. KS is associated with an increased morbidity resulting in loss of approximately 2 yr in life span with an increased mortality from many different diseases. The key findings in KS are small testes, hypergonadotropic hypogonadism, and cognitive impairment. The hypogonadism may lead to changes in body composition and a risk of developing metabolic syndrome and type 2 diabetes. The cognitive impairment is mainly in the area of language processing. Boys with KS are often in need of speech therapy, and many suffer from learning disability and may benefit from special education. Medical treatment is mainly testosterone replacement therapy to alleviate acute and long-term consequences of hypogonadism as well as treating or preventing the frequent comorbidity. More emphasis should be placed on increasing the rate of diagnosis and generating evidence for timing and dose of testosterone replacement. Treatment of KS should be a multidisciplinary task including pediatricians, speech therapists, general practitioners, psychologists, infertility specialists, urologists, and endocrinologists.

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How sexually dimorphic are we? Review and synthesis.

Melanie Blackless, Anthony Charuvastra, Amanda Derryck … (2000)

The belief that Homo sapiens is absolutely dimorphic with the respect to sex chromosome composition, gonadal structure, hormone levels, and the structure of the internal genital duct systems and external genitalia, derives from the platonic ideal that for each sex there is a single, universally correct developmental pathway and outcome. We surveyed the medical literature from 1955 to the present for studies of the frequency of deviation from the ideal male or female. We conclude that this frequency may be as high as 2% of live births. The frequency of individuals receiving "corrective" genital surgery, however, probably runs between 1 and 2 per 1,000 live births (0.1-0.2%). Am. J. Hum. Biol. 12:151-166, 2000. Copyright 2000 Wiley-Liss, Inc.

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Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS)☆

Nils Krone, Beverly A. Hughes, Gareth Lavery … (2010)

Liquid chromatography tandem mass spectrometry (LC/MS/MS) is replacing classical methods for steroid hormone analysis. It requires small sample volumes and has given rise to improved specificity and short analysis times. Its growth has been fueled by criticism of the validity of steroid analysis by older techniques, testosterone measurements being a prime example. While this approach is the gold-standard for measurement of individual steroids, and panels of such compounds, LC/MS/MS is of limited use in defining novel metabolomes. GC/MS, in contrast, is unsuited to rapid high-sensitivity analysis of specific compounds, but remains the most powerful discovery tool for defining steroid disorder metabolomes. Since the 1930s almost all inborn errors in steroidogenesis have been first defined through their urinary steroid excretion. In the last 30 years, this has been exclusively carried out by GC/MS and has defined conditions such as AME syndrome, glucocorticoid remediable aldosteronism (GRA) and Smith–Lemli–Opitz syndrome. Our recent foci have been on P450 oxidoreductase deficiency (ORD) and apparent cortisone reductase deficiency (ACRD). In contrast to LC/MS/MS methodology, a particular benefit of GC/MS is its non-selective nature; a scanned run will contain every steroid excreted, providing an integrated picture of an individual's metabolome. The “Achilles heel” of clinical GC/MS profiling may be data presentation. There is lack of familiarity with the multiple hormone metabolites excreted and diagnostic data are difficult for endocrinologists to comprehend. While several conditions are defined by the absolute concentration of steroid metabolites, many are readily diagnosed by ratios between steroid metabolites (precursor metabolite/product metabolite). Our work has led us to develop a simplified graphical representation of quantitative urinary steroid hormone profiles and diagnostic ratios.

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Journal

Journal ID (publisher-id): HRP

Journal ID (nlm-ta): Horm Res Paediatr

Journal ID (doi): 10.1159/issn.1663-2818

Title: Hormone Research in Paediatrics

Publisher: S. Karger AG

ISSN (Print): 1663-2818

ISSN (Electronic): 1663-2826

Publication date Subscription-year: 2016

Publication date (Print): April 2016

Publication date (Electronic): 28 January 2016

Volume: 85

Issue: 3

Pages: 158-180

Affiliations

^aDepartment of Pediatrics, Penn State College of Medicine, Hershey, Pa., USA; ^bWomen's and Children's Health, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden; ^cDepartment of Pediatrics, Georgia Regents University, Augusta, Ga., USA; ^dPaediatric Endocrinology, School of Medicine, University of Glasgow, Glasgow, UK; ^eMetabolism, Endocrinology and Diabetes, DSD Program, University of Michigan Health System, Ann Arbor, Mich., ^fAndrogen Insensitivity Syndrome - Differences of Sex Development Support Group, Duncan, Okla., and ^gDepartment of Psychiatry, University of Pennsylvania School of Medicine, Philadelphia Pa., USA; ^hWomen's Health Division, University College London Hospitals, London, UK; ⁱPediatric Endocrinology, Weill Cornell Medical Center, New York, N.Y., USA; ^jDepartment of Pathology, Erasmus MC University Medical Center, Rotterdam, The Netherlands; ^kDepartment of Psychiatry and Pediatrics, School of Medicine and Biomedical Sciences, SUNY at Buffalo, Buffalo, N.Y., and ^lNew York State Psychiatric Institute and Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, N.Y., USA; ^mPediatric Urology, Hospices Civils de Lyon, Claude-Bernard University, Lyon, France; ⁿIndiana University School of Medicine, Indianapolis, Ind., ^oPediatric Psychology, Pediatrics, and Child Health Evaluation and Research (CHEAR) Unit, University of Michigan, Ann Arbor, Mich., ^pHuman Genetics, Pediatrics and Urology, University of California Los Angeles, Los Angeles, Calif., and ^qEndocrinology and Diabetes, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pa., USA

Author notes

*Peter A. Lee, Department of Pediatrics, Penn State College of Medicine, Milton S. Hershey Medical Center, Box 850, 500 University Drive, Hershey, PA 17033-085 (USA), E-Mail plee@psu.edu

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Richard Auchus https://orcid.org/0000-0001-6815-6181

Article

Publisher ID: 442975 Other ID: Horm Res Paediatr 2016;85:158-180

DOI: 10.1159/000442975

PubMed ID: 26820577

SO-VID: b0df4bc7-7325-4e0c-97aa-4c4493ebaec3

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Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

History

Date received : 13 October 2015

Date accepted : 01 December 2015

Page count

Figures: 4, Tables: 2, References: 112, Pages: 23

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Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care

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Karger: Endocrinology

Most cited references 79

Clinical review: Klinefelter syndrome--a clinical update.

How sexually dimorphic are we? Review and synthesis.

Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS)☆

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Cited by 179

Most referenced authors 1,011