Obstetrics, gynecology and reproductive medicine guidelines

Sex differentiation disorders

Guidelines, reviews, statements, recommendations, standards

Congenital adrenal hyperplasia

• United States of America
  • American Academy of Pediatrics
    • Technical Report: Congenital Adrenal Hyperplasia [2005]
  • Endocrine Society
    • Congenital Adrenal Hyperplasia Due to Steroid 21-hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline [2010]
  • Lawson Wilkins Pediatric Endocrine Society
    • Consensus Statement on 21-Hydroxylase Deficiency from The Lawson Wilkins Pediatric Endocrine Society and The European Society for Paediatric Endocrinology [2002]
  • National Guideline Clearinghouse
    • Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline [2010]
  • University of Michigan Evidence-Based Pediatrics
    • Dexamethasone May Prove to be an Acceptable Alternative Therapy in the Management of Congenital Adrenal Hyperplasia Without Compromising Growth Potential [2000]
• Articles in journals
  • Clinical Chemistry and Laboratory Medicine
    • Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations [2010]
  • Endocrine Reviews
    • Molecular Biology of the 3{beta}-Hydroxysteroid Dehydrogenase/{Delta}5-{Delta}4 Isomerase Gene Family [2005]
  • Endokrynologia Polska
    • Congenital adrenal hyperplasia due to 21-hydroxylase deficiency - management in adults [2010]
  • European Journal of Endocrinology
    • Prenatal testosterone and gender-related behaviour [2006]
    • Prenatal treatment of congenital adrenal hyperplasia [2004]
    • Neonatal screening for congenital adrenal hyperplasia [2004]
    • Classic congenital adrenal hyperplasia and puberty [2004]
  • Human Reproduction Update
    • Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency [2004]
  • International Journal of Pediatric Endocrinology
    • The Role of Support Groups, Advocacy Groups, and Other Interested Parties in Improving the Care of Patients with Congenital Adrenal Hyperplasia: Pleas and Warnings [2010]
    • Mineralocorticoid Deficiency and Treatment in Congenital Adrenal Hyperplasia [2010]
    • Management of the Adult with Congenital Adrenal Hyperplasia [2010]
    • Growth and Reproductive Outcomes in Congenital Adrenal Hyperplasia [2010]
    • Duration of Suppression of Adrenal Steroids after Glucocorticoid Administration [2010]
    • Dexamethasone Therapy of Congenital Adrenal Hyperplasia and the Myth of the “Growth Toxic” Glucocorticoid [2010]
    • Congenital Adrenal Hyperplasia: Classification of Studies Employing Psychological Endpoints [2010]
    • An Evidence-Based Model of Multidisciplinary Care for Patients and Families Affected by Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency [2010]
    • Alternative Strategies for the Treatment of Classical Congenital Adrenal Hyperplasia: Pitfalls and Promises [2010]
  • Journal of Clinical Endocrinology & Metabolism
    • Nonclassical 21-Hydroxylase Deficiency [2006]
    • Improving Neonatal Screening for Congenital Adrenal Hyperplasia [2004]
    • Long Term Outcome in Adult Males with Classic Congenital Adrenal Hyperplasia [2001]
  • Reproductive Biology and Endocrinology
    • The use of digit ratios as markers for perinatal androgen action [2006]
• {Related topics}
  • Guidelines
    • Hirsutism
    • Disorders of sex development

Disorders of sex development

• International
  • Pediatrics
    • Summary of Consensus Statement on Intersex Disorders and Their Management [2006]
• New Zealand
  • Auckland District Health Board
    • Initial Assessment and Investigation of Ambiguous Genitalia [2003]
• United States of America
  • International Journal of Pediatric Endocrinology
    • Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team [2010]
  • Lawson Wilkins Pediatric Endocrine Society
    • Consensus statement on management of intersex disorders [2006]
  • National Guideline Clearinghouse
    • Disorders of sex development. In: Guidelines on paediatric urology. European Association of Urology [2008]
• Articles in journals
  • Best Practice & Research: Clinical Endocrinology & Metabolism
    • Holistic management of DSD [2010]
  • British Medical Journal
    • Revealing the diagnosis of androgen insensitivity syndrome in adulthood [2005]
  • Environmental Health Perspectives
    • Testicular Dysgenesis Syndrome and the Estrogen Hypothesis: A Quantitative Meta-Analysis [2008]
  • Hormone Research in Paediatrics
    • The Clinical and Molecular Heterogeneity of 17ßHSD-3 Enzyme Deficiency [2010]
    • Genetic and Clinical Spectrum of Aromatase Deficiency in Infancy, Childhood and Adolescence [2009]
  • Hormones
    • Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals [2010]
    • Androgen insensitivity syndrome: clinical features and molecular defects [2008]
  • Human Reproduction
    • Does a testicular dysgenesis syndrome exist? [2009]
  • Journal of Applied Genetics
    • Genetic mechanisms underlying male sex determination in mammals [2009]
  • Journal of Clinical Endocrinology & Metabolism
    • The Postnatal Gonadotropin and Sex Steroid Surge--Insights from the Androgen Insensitivity Syndrome [2002]
    • Monogenic Disorders of Puberty [2002]
  • Reproduction
    • An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms [2005]
    • Environmental anti-androgens and male reproductive health: focus on phthalates and testicular dysgenesis syndrome [2004]
  • Reproductive Biology and Endocrinology
    • Contributions of androgen and estrogen to fetal programming of ovarian dysfunction [2006]
  • Sexual Development
    • New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD) [2010]
  • Trends in Endocrinology & Metabolism
    • Phthalate-induced testicular dysgenesis syndrome: Leydig cell influence [2009]
• {Related topics}
  • Guidelines
    • Turner syndrome
    • Klinefelter syndrome
    • Congenital adrenal hyperplasia

Klinefelter syndrome

• Articles in journals
  • American Family Physician
    • Klinefelter Syndrome [2005]
  • Developmental Disabilities Research Reviews
    • Structural and Functional Neuroimaging in Klinefelter (47,XXY) Syndrome: A Review of the Literature and Preliminary Results from a Functional Magnetic Resonance Imaging Study of Language [2009]
  • Human Reproduction
    • Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009? [2010]
  • Human Reproduction Update
    • Natural history of seminiferous tubule degeneration in Klinefelter syndrome [2006]
    • PGD in 47,XXY Klinefelter's syndrome patients [2003]
  • Journal of Autoimmunity
    • Autoimmunity and Klinefelter’s syndrome: when men have two X chromosomes [2009]
  • Orphanet Journal of Rare Diseases
    • Klinefelter syndrome and other sex chromosomal aneuploidies [2006]
• {Related topics}
  • Guidelines
    • Male infertility
    • Disorders of sex development

Turner syndrome

• United Kingdom
  • Royal College of Obstetricians and Gynaecologists
    • Turners syndrome and hypertrophic vagina - query bank [2009]
• United States of America
  • American Academy of Pediatrics
    • Care of Girls and Women With Turner Syndrome: A Guideline of the Turner Syndrome Study Group [2009]
  • National Institute of Child Health and Human Development
    • Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group [2007]
    • Turner Syndrome [2005]
• Articles in journals
  • American Family Physician
    • Turner Syndrome: Diagnosis and Management [2007]
  • Endocrine Reviews
    • Turner’s Syndrome in Adulthood [2002]
  • Hormone Research in Paediatrics
    • Hormones and Genes of Importance in Bone Physiology and Their Influence on Bone Mineralization and Growth in Turner Syndrome [2010]
  • Journal of Clinical Endocrinology & Metabolism
    • Recommendations for the Diagnosis and Management of Turner Syndrome [2001]
  • Pediatrics
    • Health Supervision for Children With Turner Syndrome [2003]
  • Sao Paulo Medical Journal
    • Y chromosome in Turner syndrome: review of the literature [2009]
• {Related topics}
  • Guidelines
    • Disorders of sex development
    • Amenorrhea