Klinefelter Syndrome
This syndrome is also known as the XXY Syndrome and Seminiferous Tubule Dysgenesis.
The frequency of this syndrome to occur is in about 1:400 male live births.
The affected individuals have the following characteristics:
– male phenotype
– mental retardation
– gynecomastia
– infantile genitals
– eunuchoid body proportions
– sterility
– increased Follicle Stimulating Hormone(FSH) in the urine.
It was mentioned in the Textbook of Pediatrics by Dr Fe del Mundo
that there was a case of Klinefelter syndrome in a child of 4 years
where the major presenting signs were micropenis and cryptorchidism.
The child had 48 chromosomes with a sex chromosome complement of XXXY.
It is not easy to detect clinically a Klinefelter syndrome in a child because of the absence of symptoms characteristic of the syndrome in the adult.