Question
What is Sertoli cell hypoplasia, and my son has been diagnosed with this condition.
Answer
Sertoli cell hypoplasia, also referred to as Klinefelter’s syndrome, is a disorder resulting from chromosomal abnormalities. It also goes by other names such as sclerosing seminiferous tubule degeneration, congenital hypogonadism, or primary hypogonadism. This condition usually does not present with obvious symptoms before puberty and can easily be overlooked. During puberty, typical symptoms include small and firm testes, typically not exceeding 2 centimeters in length, which is about half the size of a normal adult male. Patients may also exhibit characteristics such as tall stature, delicate skin, long hair, and sparse facial hair. Some patients may also experience symptoms like breast development, low libido, and infertility during puberty. Additionally, about half of the patients may have mild intellectual impairment. The examination of testicular tissue shows tubular hyalinization, significant thickening of the basement membrane, atrophy of spermatogenic cells even to the point of disappearance, leaving only supporting cells with many clogged lumens. There is an excessive proliferation of collagen fibers in the interstitial tissue of the testes, with many groups of interstitial cells and a reduction in intracellular lipid droplets. Plasma testosterone levels are normal or slightly low, while estrogen production increases, leading to an imbalance in the ratio. In most cases, there is a significant increase in the levels of gonadotropins in blood and urine, especially F