临床儿科研究杂志

An Adolescent with Klingelfelter's Syndrome

Eleje George Uchenna

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.