Among the guys, they would usually tell each other to ‘grow some balls’ as a euphemism for bulking up or telling someone to be braver in the face of a hurdle (or a dare). It can be used as an expression of tough love by a big brother or even a form insult to your opponent in a mix martial art fight. One thing that is certain though, no one wants you to literally have a bigger pair of testicles.
But let’s just assume that you did take the phrase quite literally and wanted to be born with bigger and bulkier testicles, or maybe even praying that your future son be born with a big pair himself, how would it play out for you or your son?
Bigger Isn’t Always Better
Usually, the size of the testicle is measured using an Orchidometer, an instrument with beads of varying sizes, on a string, usually used for paediatric patients. Comparing the size of one’s testicle to the respective bead on the string helps establish the size-for-age of one’s testicle and determine whether it is smaller or larger or normal.
Upon taking your son to the doctor to have his testicles be examined, you were told that your son’s testicles are bigger than normal for his age. You rejoiced after learning this, thinking that you or your son can brag about this to your or his friends but you were surprised when the doctor looked concerned and worried about the finding.
The reason why the doctor was concerned is because the finding of a large testicle is a red flag for what could be a sign of long-standing primary hypothyroidism, follicle stimulating hormone (FSH)-secreting pituitary macroadenomas, adrenal remnants in congenital adrenal hyperplasia or local tumors.
More importantly however, it is one of the most common sign of Fragile X syndrome.
Fragile X syndrome (FXS) is a genetic disorder characterised by the presence of mild to moderate intellectual impairment and a number of physical features which develops over time such as:
- Large head.
- Long face.
- Prominent forehead and chin.
- Protruding ears.
- Loose joints.
- Large testes.
Motor and language delays are usually present but also become more apparent over time. Behavioral abnormalities including autistic behaviors are common.
Fragile X syndrome was traditionally thought to be X-linked dominant in terms of inheritance. What that essentially mean is that regardless if you are XX (Female) or XY (Male), just one of those ‘X’ that carry the defect is enough to give you the condition. It is notably different from X-linked recessive form of inheritance which, in order for the disease to manifest, requires both copy of a defected ‘X’ chromosome to be present in a female while one is enough for male since they only have one ‘X’ in their sex chromosome. As a result, boys are more likely to have Fragile X Syndrome than girls, and they have more severe symptoms.
However, studies have also found the patterns of genetic anticipation and X-inactivation in females. Some people inherit the fragile X gene without having symptoms and they are called carriers as they are able to pass the gene change to their children. Due to that, Fragile X syndrome’s inheritance pattern did not coincide with the classical pattern of X-linked dominant inheritance, leading to suggestions of discontinuing such label.
The gene responsible for the disease is the Fragile X mental retardation 1 (FMR1) gene on the X chromosome which produces a protein called FMRP needed for proper cell function. Defect in this gene leads to insufficient production of FMRP required for normal development of the connection between neurons. The syndrome got its name because some individuals with the disorder were found to have a segment of their X chromosome appeared to be broken or somewhat fragile. Later it was learned that the FMR1 gene is located precisely where the X chromosome appears to be “fragile” in affected individuals.
If you have worries or concern regarding your child’s health, it is advised that you go and see the doctor immediately to get proper tests and consultation.
Hello Health Group does not provide medical advice, diagnosis or treatment.
Hello Health Group tidak memberikan nasihat perubatan, diagnosis atau rawatan.