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46XY girls: the importance of careful newborn examination
T Sharp1, N Fraser1, M U Shenoy1
1Department of Pediatric Urology, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.
Insights
Early diagnosis of 46XY disorders of sexual differentiation (DSD) is crucial. While many phenotypically female 46XY children present with genital abnormalities, not all are identified at birth.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Reproductive Medicine
Background:
- Disorders of Sexual Differentiation (DSD) encompass a range of conditions affecting sexual development.
- Phenotypically female 46XY individuals present a unique diagnostic challenge.
- Understanding diagnostic timing is key for effective management of DSD.
Purpose of the Study:
- To investigate the timing of diagnosis in phenotypically female 46XY children.
- To identify factors influencing the diagnosis of 46XY DSD.
- To correlate clinical findings with underlying endocrine abnormalities.
Main Methods:
- Retrospective review of case notes from a multidisciplinary DSD clinic.
- Analysis of data from 11 phenotypically female 46XY children over a 3-year period.
- Data collected included age at presentation, family history, genital examination findings, and endocrine status.
Main Results:
- Eleven children, all raised as girls, were included in the study.
- Median age of presentation was 18 months (range: birth to 15 years).
- Only 3 cases were identified during newborn examination; however, 10 of 11 children had significant external genital abnormalities.
Conclusions:
- Neonatal examination can detect some DSD cases, but early identification is not universal.
- Prompt diagnosis of 46XY DSD is essential for optimizing patient management.
- Multidisciplinary DSD clinics play a vital role in diagnosing and managing these complex conditions.
Study Objective:
To understand the timing and factors affecting diagnosis of phenotypically female 46XY children.
Design, Setting, And Participants:
We studied all phenotypically female 46XY children who attended our multidisciplinary disorders of sexual differentiation (DSD) clinic in Nottingham England in a 3-year period since its inception. Case notes from a prospectively maintained database were reviewed and data were analyzed on the age at presentation, family history, findings on genital examination, and underlying endocrine abnormality.
Results:
Eleven children were studied, all of whom were being raised as girls. The median age of presentation was 18 months (range birth-15 years). Although the newborn examination detected the possibility of DSD in only 3 cases; 10 of 11 children had at least one significant abnormality in their external genitalia at presentation.
Conclusion:
Careful neonatal genital examination can identify children with DSD. However, not all children with these conditions are identified early. Early diagnosis, when possible, is important, as it has the potential to make the management of this difficult condition more straightforward.
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