This area is designed to provide information and current research material relating to individuals born with differences of sex development and atypical genitalia. These guidelines are not intended to be construed or to serve as a standard of care. Standards of care are determined on the basis of all clinical data available for an individual case and are subject to change as scientific knowledge and technology advance and patterns of care evolve. Adherence to guideline recommendations will not ensure a successful outcome in every case, nor should they be construed as including all proper methods of care or excluding other acceptable methods of care aimed at the same results. The ultimate judgement must be made by the appropriate healthcare professional(s) responsible for clinical decisions regarding a particular clinical procedure or treatment plan. This judgement should only be arrived at following discussion of the options with the patient, covering the diagnostic and treatment choices available. It is advised, however, that significant departures from the national guideline or any local guidelines derived from it should be fully documented in the patient’s case notes at the time the relevant decision is taken.
Neonatal Care Pathway 2024
SDSD Steering Group
Bilateral Impalpable Testes Pathway 2021
SDSD Steering Group
UK Guidance on initial evaluation of an infant or adolescent with a suspected disorder of sex development (temporarily removed)
The Story of Sex Development
dsdfamilies Educational Resource
Open as a PDF
Atypical Genitalia – Initial Assessment
Education Video for Health Professionals
Atypical Genitalia – Theory and Management
Education Video for Health Professionals
BMJ Best Practice Guide – Ambiguous genitalia in neonates (temporarily removed)
Clinical practice guidelines for the care of girls and women with Turner syndrome
Primary Amenorrhoea
Link to NICE Guidelines on Primary Amenorrhoea.
StratOG online learning resource
Genetic Testing
Information on Genetic Testing for Health Professionals
Genetic Testing Request Form
Downloadable Genetic Test Request Form for use by Health Professionals only
Referral Form for DSD Diagnostic Service
Downloadable Referral Form for DSD Diagnostic Service for use by Health Professionals only
Referral Form for Genetic Services – Hypogonadotropic Hypogonadism Downloadable Referral Form for Genetic Services for use by Health Professionals only
Caring for Individuals with a Difference of Sex Development (DSD): a Consensus Statement
Cools, M et al. Nature Reviews