Patient's question:
What are the clinical manifestations of congenital hypoplasia of the testes?Doctor's answer:
Congenital hypoplastic testes do not show obvious clinical symptoms before puberty, and only a small number have mild intellectual disability and behavioral abnormalities. During puberty, there are obvious manifestations of incomplete development of male secondary sexual characteristics.1. Intellectual disability: Most patients with congenital hypoplastic testes have normal intelligence, while about 1/4 have mild intellectual disability. Clinical studies have found that the more sex chromosomes (X chromosomes), the higher the incidence and severity of intellectual disability.
2. Mental abnormalities: The main characteristics are apathy, lack of initiative, and poor thinking. Children often appear shy, solitary, quiet, and poor at socializing. Some children may show excessive dependence on their parents, often skipping school and wandering outside, or even engaging in inappropriate behavior. Some children may exhibit neurotic tendencies or even symptoms of psychosis. Studies have found that the incidence of schizophrenia in children with congenital hypoplastic testes is several times higher than in the general population.
3. Developmental disorders of secondary sexual characteristics: Patients appear male externally, but have small testes (length of about 2 cm or less), micropenis, and may also have conditions such as cryptorchidism, hypospadias, low libido, and azoospermia, generally making them infertile. 10-30% of children exhibit feminization, such as breast development, sparse body hair, no beard, delicate skin, well-developed subcutaneous fat, an indistinct Adam's apple, and a slender body, especially with marked growth in the lower limbs.
4. Malformations and dermal pattern abnormalities: There may be microcephaly, skeletal malformations such as radial-ulnar synostosis, cubitus valgus, varus deformities of the knee and hip, ocular malformations such as severe visual impairment, cleft iris, choroid, or coloboma of the iris, or absence of the iris.