Male Reproductive Endocrinology III Flashcards
Gynecomastia and potentially more pronounced feminization is common in genetic disorders involving deficiencies in
3β-hydroxysteroid dehydrogenase or 17β-hydroxysteroid dehydrogenase
Failure of the testes to completely descend into the scrotum
Cryptorchidism
One of the most common birth defects, occuring in approximately 3% of male births
Cryptorchidism
Can be associated with reduced fertility, testicular cancer, inguinal hernias, and psychological problems in adults
Undescended testes
Hereditary defects in the X-linked gene that encodes the AR can cause a wide range of syndromes in otherwise normal 46, XY males. In the most severe form, affected individuals are
Phenotypic women with testicular feminization (complete androgen resistance)
If the defect in AR is less complete, the phenotype is that of men but with hypospadias and gynecomastia. This is called
Reifenstein’s syndrome
In Reifenstein’s syndrome, we see elevated levels of
Testosterone, LH, and estradiol
Occurs when the mutations in the AR gene are subtle, resulting in more minor phenotypes like infertility, less auxillary hair, or small phallus
Partial Anrogen Resistance
Androgen resistance can also result from defects in androgen target tissues. For example, the genetic loss of
5α-reductase
The genetic loss of 5α-reductase can lead to male pseudohermaphroditism due to the loss of
DHT production in target tissues
The most commonly diagnosed malignancy (excluding skin cancer) in American men and the second leading cause of male cancer death
Prostate cancer
Thought to arise from transformed luminal epithelial tissue
Prostate cancer
Importantly, prostate tumors arising from epithelial tissue retain an initial androgen dependency for
Growth and proliferation
Indeed, current therapeutic treatments for prostate cancer exploit this fact and include administration of
Anti-androgenic compounds
