Patient's question:
What is the detailed examination for the diagnosis of congenital hypoplasia of the testes, and are there any criteria?Doctor's answer:
Infertility or sexual dysfunction is the main reason for patients' follow-up visits. Typical symptoms include tall stature, small bilateral testes, and gynecomastia. A positive X chromosome body and a karyotype of 47,XXY can definitely confirm the diagnosis. Chromosome karyotyping for male patients with intellectual disability or abnormal behavior can help with diagnosis. The recurrence of typical symptoms during puberty makes the diagnosis easier, and newborn screening can detect very few cases. Laboratory tests reveal reduced testosterone levels in the blood or normal levels, while estrogen, FSH, and 17-hydroxyprogesterone levels are elevated.