EC Paediatrics

Disorders of sexual differentiation (DSD) encompass a range of clinical conditions that diverge from the traditional definitions of male or female at birth. The development of sexual characteristics can be influenced by genetic, gonadal, or phenotypic factors, or a combination thereof. The incidence of DSD is approximately 1 in 400 births. The classification of these disorders, understanding the genetic and hormonal anomalies, and formulating a comprehensive management plan represent significant challenges for clinicians. Some DSDs are extremely rare, with limited data available on their impact on fertility and the potential for genomic interventions. This article aims to elucidate the complexities of the diagnostic process, underscore the rarity of certain DSD cases, and highlight the challenges involved in their management.
Keywords: DSD; SRY; 46 Ovotestis

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