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Related Experiment Video

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Sex Differences in Mouse Hippocampal Astrocytes after In-Vitro Ischemia

Sex Differences in Mouse Hippocampal Astrocytes after In-Vitro Ischemia

Published on: October 25, 2016

A clinical algorithm to diagnose differences of sex development.

Nayla Y León¹, Alejandra P Reyes², Vincent R Harley¹

¹Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Melbourne, VIC, Australia.

The Lancet. Diabetes & Endocrinology

|February 27, 2019

Summary

Diagnosing and managing differences of sex development (DSDs) in infants with ambiguous genitalia requires a structured approach. This review presents a diagnostic algorithm for clinical assessment and molecular diagnosis, aiding in complex cases.

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Area of Science:

Pediatric Endocrinology
Clinical Genetics
Reproductive Medicine

Background:

Differences of sex development (DSDs) are congenital conditions with atypical sex development.
These conditions present challenges in diagnosis and management for clinicians.
A heterogeneous etiology necessitates precise diagnosis for comprehensive care.

Purpose of the Study:

To outline a step-by-step approach for the clinical assessment of ambiguous genitalia.
To provide a diagnostic algorithm for molecular diagnosis in patients with DSDs.
To review established and emerging diagnostic technologies and discuss current controversies.

Main Methods:

Systematic review of diagnostic approaches for DSDs.
Development of a diagnostic algorithm for clinical and molecular assessment.
Appraisal of current and novel diagnostic technologies.

Main Results:

A structured, step-by-step diagnostic algorithm is presented.
The review covers clinical assessment, molecular diagnosis, and technological advancements.
Key areas of controversy in DSD management are discussed.

Conclusions:

A systematic diagnostic approach is crucial for managing children with ambiguous genitalia.
Precise diagnosis of DSDs is essential for guiding genetic, endocrine, surgical, and psychosocial care.
The review provides a framework for clinicians facing complex DSD cases.