World Turner Syndrome Day

             

                                                            Dr. Henry Hubert Turner

 

Dr. Henry Hubert Turner, an American endocrinologist, published a report in 1938 describing seven women with:

• Short stature
• Lack of sexual development (primary amenorrhea, infertility)
• A webbed neck
• Broad chest with widely spaced nipples
• Cubitus valgus (outward turning of the elbows)

Charles Ford and colleagues discovered that women with Turner’s Syndrome often had a missing or abnormal X chromosome (45,X karyotype).

This was one of the first conditions linked directly to chromosomal abnormalities in humans.

Current Events 

World Turner Syndrome Day is observed annually on August 28, with the aim of raising awareness about this genetic condition, supporting individuals with the syndrome, and promoting research and informed care 

                                        

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