An Adolescent with Klingelfelter's Syndrome
Klinefelter's syndrome is a common sex chromosomal defect in
humans that continues to be a major genetic cause of infertility
in men. A 12-year-old student was referred to our hospital
because he had small penis and testes from birth, as well as a
five-year history of gradual breast augmentation. The height
was 1.64 meters and the weight was 75 kilograms, according
to the examination. Tanner stage IV and III had well-developed
breast and axillary hairs, respectively, while Tanner stage IV
had a well-developed hair distribution of external genitalia. The
testicles and penis were both tiny but nicely developed.
Hypospadias and epispadias were not present.
There were no ovaries or uterus visible on transperineal and
trans rectal ultrasounds. Except for a low level of Follicle
Stimulating Hormone (FSH), the hormonal profile was normal.
Because of the gynecomastia, the parent was referred to a
general surgeon for a mastectomy. In our gynaecological clinic,
we reported the first occurrence of Klinefelter's syndrome in an
adolescent. The numerous types of gynecomastia differential
diagnosis were discussed.