Understanding Disorders of Sex Development in Children
Author Information
Author(s): Erdoğan Sema, Kara Cengiz, Uçaktürk Ahmet, Aydın Murat
Primary Institution: Ondokuz Mayis University
Hypothesis
The study aims to determine the etiological distribution of disorders of sex development (DSD) according to the new DSD classification system.
Conclusion
The new DSD classification system significantly alters the distribution of etiological diagnoses of DSDs, while common causes like congenital adrenal hyperplasia and androgen insensitivity syndrome remain unchanged.
Supporting Evidence
- The most common causes of DSDs were Turner’s syndrome, congenital adrenal hyperplasia, and androgen insensitivity syndrome.
- Patients presented with a wide range of symptoms including ambiguous genitalia and short stature.
- Consanguinity was reported in 18% of cases, with a higher rate in congenital adrenal hyperplasia patients.
Takeaway
This study looks at kids with unusual sex development and finds that the reasons for these conditions are changing, but some common issues are still the same.
Methodology
The study retrospectively reviewed patient records over three years, categorizing them based on karyotypes and conducting clinical and laboratory investigations.
Potential Biases
Potential bias in patient selection and retrospective data collection.
Limitations
Molecular genetic testing could not be performed for all patients, limiting definitive diagnoses for some cases.
Participant Demographics
The study included 95 patients with a wide age range from 1 day to 17.5 years.
Statistical Information
P-Value
p<0.001
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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