The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report.

Area of Science:

• Genetics
• Endocrinology
• Pediatrics

Background:

• Turner syndrome is a genetic disorder in females caused by the absence or partial absence of an X chromosome.
• Karyotypes vary, with 45,X being common, but mosaicism and structural abnormalities also occur.
• Rare karyotypes, such as balanced Robertsonian translocation and 44,X chromosomes, present diagnostic challenges.

Observation:

• A 10.3-year-old girl presented with failure to thrive and short stature, initially unresponsive to growth hormone therapy.
• Subtle physical findings included mild retrognathia, micrognathia, high arched palate, and low posterior hairline.
• A discrepancy between target height and patient height standard deviation scores was noted.

Findings:

• Karyotype analysis confirmed Turner syndrome with a rare 44,X chromosome count.
• This case represents the sixth reported instance of Turner syndrome with a 44,X karyotype and the fifth with balanced Robertsonian translocation (13;14)(q10;q10).
• The diagnosis was delayed due to non-obvious somatic presentations and initial lack of focused physical examination.

Implications:

• This case highlights the importance of considering rare karyotypes in Turner syndrome diagnosis.
• The difference between target height and patient height standard deviation scores is a valuable, cost-effective diagnostic tool.
• Early and accurate diagnosis of Turner syndrome is crucial for timely intervention and management.