Normal sex development (puberty) depends on a precise interplay and coordination between activating and repressing factors, the cascade of which is determined by the presence or absence of the SRY gene on the Y chromosome. Its presence leads to male sex development, while its absence leads to female sex development. Disorders of sexual development (DSD) are a diverse group of conditions, usually congenital, that lead to atypical internal and external genital development. These disorders can be classified into several categories—chromosomal, gonadal, and anatomic.
Genetic tools such as microarray analyses and next-generation sequencing techniques have identified novel genetic variants among patients with DSD, making it easier to personalize treatment options to patients based on their desire to procreate, undergo surgical treatments, or preserve fertility.
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Thoroughly explained what is essential for test takers like me
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