Congenital hypoplasia of the testes

Patient's question:

Symptoms: Disorders of secondary sexual development: The patient appears male externally, but has small testes (length less than approximately 2 cm), micropenis, and may also have conditions such as cryptorchidism, hypospadias, low libido, and azoospermia, generally making them infertile. 10-30% of patients exhibit feminization, such as the development of breasts, sparse body hair, absence of a beard, delicate skin, well-developed subcutaneous fat, an indistinct Adam's apple, a slender build, and particularly noticeable growth in the lower limbs.
I sincerely hope you can provide a heartfelt response, and once again, my gratitude goes beyond words!

Doctor's answer:

Hello, in such cases, it is important to be aware of the possibility of Klinefelter syndrome, which is a disease caused by an abnormality of the sex chromosomes. It is also known as congenital hypoplasia of the seminiferous tubules and is the most common male hypogonadism disorder in clinical practice, classified as hypergonadotropic hypogonadism. Before puberty, there are generally no obvious symptoms. During puberty, symptoms gradually become apparent, including poor development of the external genitalia, small and firm testes, delayed or even absent development of male secondary sexual characteristics, pale skin, poor body hair development, sparse pubic hair, mustache, and often absent axillary hair, indistinct Adam's apple, tall stature, and a body with a longer lower half than upper half. In nearly half of the patients, breast development is feminine. Patients often have low libido, poor sexual function, and in almost all cases, azoospermia, making them unable to conceive. It is recommended that you visit a hospital for tests such as karyotyping to clarify your condition based on the results. Wishing you good health! 21

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