Editing Disorders of Sexual Differentiation (section)

===== Syndrome of Partial Androgen Insensitivity Syndrome (PAIS) =====
* Also known as Reifenstein syndrome
* '''X-linked disorder'''
* '''A disorder of androgen receptor quantity or function'''
* '''Ambiguious external genitalia to varying degrees,''' from hypospadias and a pseudovagina to gynecomastia and '''azoospermia'''
** Classic phenotype is that of a male with perineoscrotal hypospadias, cryptorchidism, rudimentary wolffian-derived structures, gynecomastia, and infertility.
* Diagnosis
** Can be difficult; a family history consistent with X-linked inheritance of ambiguous genitalia is suggestive of the disorder
** In the neonatal period, it may be made in the setting of a 46,XY karyotype, ambiguous external genitalia, and absent müllerian-mullerian structures on pelvic ultrasound.
** '''Endocrine evaluation demonstrates normal male levels of testosterone''' and gonadotropins, and a normal testosterone/DHT ratio.
** An hCG stimulation test and characterization of the androgen receptor gene in serum DNA by PCR should confirm the diagnosis.
* Management
** Must be individualized depending on the degree of genital ambiguity
** A course of androgen injections in early infancy is often used to assess androgen responsiveness, which can aid in gender assignment.