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Related Concept Videos

Sex Linked Disorders01:43

Sex Linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.  
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The Diagnostic and Statistical Manual of Mental Disorders (DSM) serves as the primary classification system for mental health disorders, providing standardized diagnostic criteria for clinicians and researchers. First published by the American Psychiatric Association (APA) in 1952, the DSM has undergone several revisions to reflect evolving psychiatric understanding. The fifth edition, DSM-5, released in 2013, introduced key updates that expanded diagnostic categories and modified diagnostic...
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How should we classify intersex disorders?

Ian A Aaronson1, Alistair J Aaronson

  • 1Department of Urology, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425, USA. aaronson@musc.edu

Journal of Pediatric Urology
|May 25, 2010
PubMed
Summary
This summary is machine-generated.

Disorders of Sex Development (DSD) classification needs improvement. This study proposes a return to gonadal histology for a more clinically relevant DSD classification system, especially when genetic or biochemical diagnoses are uncertain.

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Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics
  • Reproductive Medicine

Background:

  • The term Disorders of Sex Development (DSD) has replaced 'intersex' but lacks a universally accepted classification system.
  • Current classification based on karyotype is limited, being a crude genetic reflection, diagnostically non-specific, and clinically irrelevant.
  • Historical classification using gonadal histology is undervalued due to negative connotations, despite its clinical relevance.

Purpose of the Study:

  • To propose a comprehensive classification system for Disorders of Sex Development (DSD) based on gonadal histology.
  • To re-establish gonadal histology as a fundamental component in understanding sexual development and patient outcomes.
  • To refine diagnostic criteria for DSD, specifying when gonadal biopsy is essential.

Main Methods:

  • Review and re-evaluation of historical and current classification systems for DSD.
  • Proposal of a new classification framework centered on gonadal histology.
  • Identification of specific diagnostic scenarios (e.g., suspected ovotestis or dysgenetic gonad) necessitating gonadal biopsy.

Main Results:

  • Gonadal histology is fundamental for understanding normal and aberrant sexual development.
  • Histology is a major determinant of clinical outcomes in patients with DSD.
  • Biopsy is not always required; diagnosis can be confidently predicted through biochemical or genetic studies in many cases.

Conclusions:

  • A classification system for Disorders of Sex Development based on gonadal histology offers greater clinical relevance than karyotype-based systems.
  • Gonadal histology remains crucial for medical education and patient management in DSD.
  • Gonadal biopsy should be reserved for cases where histology is essential for definitive diagnosis, such as suspected ovotestis or dysgenetic gonads.