29th February 2024

A 23-year-old male was found to have enlarged testes by his GP

A 23-year-old male was found to have enlarged testes by his GP. USS examination of his scrotum has showed increased testicular volume without any increased fluid within the testes.

He is known to have learning difficulties, and his parents note that his behaviour is often challenging, with increased irritability and anger outbursts. His mother reports that his speech and motor development were slower than his sister’s. On examination, he is generally hypotonic. His face also appeared elongated with large ears. He has a high-arched palate and can touch his thumb to his wrist.

Given the likely unifying diagnosis, what are the chances of his son inheriting this condition if the mother’s genotype is normal?

Select the SINGLE most appropriate option from the list below. Select ONE option only.