Reifenstein's syndrome

(Edward Reifenstein, Jr., 20th century, American endocrinologist) (also called incomplete male pseudohermaphrotidism), syndrome occuring in boys, including perineal scrotal hypospadias with azoospermia, infertility, and incomplete virilization at puberty. Gynaecomastia may be seen developing at or after puberty. Severe manifestations may include a vagina with small testes, which are cryptorchid. The cause of this syndrome can be demonstrated by fibroblast culture, to be a defect in androgen binding to a varying degree. In severe cases that are detected early, the child should be gender converted to female, whereas in milder forms the majority of children are phenotypic and physiological males and the hypospadias can be repaired. If clinically required, ultrasound may be used but MRI can best assess the internal and external genitalia.

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