[Four cases of true hermaphroditism]

Area of Science:

• Reproductive Medicine
• Pediatric Endocrinology
• Genetics

Background:

• True hermaphroditism is a rare intersex condition characterized by the presence of both ovarian and testicular tissue.
• Management of true hermaphroditism requires a multidisciplinary approach due to its complexity in sex determination and gonadal differentiation.

Observation:

• This report details four pediatric cases of true hermaphroditism with varying karyotypes (46,XX/46,XY, 46,XX/47,XXY/48,XXYY, 46,XX) and gonadal configurations (ovotestis, unilateral ovotestis, ovary and testis).
• All patients presented with ambiguous genitalia, including hypospadias and undescended testes, and were raised as males.
• Hormonal evaluation revealed diverse testosterone responses to human chorionic gonadotropin stimulation across the cases.

Findings:

• Karyotype analysis revealed mixed chromosomal complements, highlighting genetic mosaicism in true hermaphroditism.
• Histological examination of gonads, alongside hormonal profiles and imaging, is essential for accurate diagnosis.
• The study observed varied testosterone responses to human chorionic gonadotropin stimulation, indicating diverse endocrine function of gonadal tissue.

Implications:

• Accurate sex determination in true hermaphroditism necessitates integrating chromosomal, hormonal, imaging, and histological data.
• Early and comprehensive assessment is vital for guiding appropriate sex assignment and medical management in infants with true hermaphroditism.
• Further research is needed to optimize treatment strategies and long-term outcomes for individuals with true hermaphroditism.