Question

Baby suffering with DSD (disorders of sexual development): 
Clinical features. 
 

Hint:

A thorough examination, including genetic testing and imaging studies, is essential for diagnosing and differentiating between various types of DSD.

Answer 1

Step 1: Clinical Presentation of DSD.
Clinical features of DSD vary depending on the underlying cause and the sex chromosomal composition, including:
1. Ambiguous genitalia: The most prominent feature, where the external genitalia do not clearly align with the typical male or female genitalia.
2. Short stature or delayed puberty: Particularly in conditions like Turner syndrome or Klinefelter syndrome, where there is gonadal dysfunction.
3. Primary amenorrhea: In females with XY DSD (e.g., Swyer syndrome), there may be a lack of menstruation despite the absence of ovaries.
4. Infertility: Individuals with DSD, especially those with gonadal dysgenesis, often face infertility due to non-functional gonads or the lack of gametes.
5. Sexual ambiguity: In some cases, the individual may have a mix of male and female reproductive organs, such as both testicular and uterine tissue.

Step 2: Additional Features.
1. Clitoromegaly or hypospadias: In cases of congenital adrenal hyperplasia (CAH), females may present with enlarged clitoris or males with hypospadias.
2. Vaginal agenesis: In conditions like Müllerian duct anomalies, females may lack a vaginal opening despite having a female chromosomal makeup.

Step 3: Conclusion.
The clinical features of DSD include ambiguous genitalia, delayed puberty, infertility, and sexual ambiguity, all depending on the underlying etiology. Early intervention is critical for managing these conditions.