What is hypoplasia?

Hypoplasia is the incomplete development or underdevelopment of an organ or tissue. Hence, organs or tissue affected by hypoplasia have a below average number of cells.

There are different types of hypoplasia, depending on what tissue is affected. The most common types are:

• Testicular hypoplasia (seen in Klinefelter's syndrome)
• Optic nerve hypoplasia
• Enamel hypoplasia (also known as Turner's hypoplasia)
• Cardiac hypoplasia (hypoplastic left heart syndrome and right hypoplastic heart syndrome)
• Thymus hypoplasia (DiGeorge syndrome)
• Uterine hypoplasia (also known as naïve uterus or infantile uterus)

Symptoms of hypoplasia

The symptoms of hypoplasia vary widely depending on the tissue that this condition affects. For example, optic nerve hypoplasia is characterised by visual difficulties, nystagmus and strabismus. Enamel hypoplasia makes the teeth hypersensitive to heat or cold. Uterine hypoplasia shows symptoms such as a delayed first menstrual cycle (usually after the age of 16), painful and irregular periods, abdominal pain and a small vaginal opening.

How is hypoplasia diagnosed?

Like the symptoms, the diagnosis also changes according to the type of hypoplasia. For example, that of the optic nerve is easily identifiable with an ophthalmoscope and with a MRI, while the diagnosis of uterine hypoplasia is made during a gynaecological examination, using ultrasound.

What are the causes of hypoplasia?

Hypoplasia is usually congenital, meaning it is present at birth. It may be hereditary, but for many types of hypoplasia, the specific causes are not yet known. Certain types, such as enamel hypoplasia, do have known causes, including prenatal issues like maternal drug use, maternal vitamin D deficiency, low birth weight or premature birth.

Which specialists treat hypoplasia?

The type of hypoplasia being treated would dictate the type of specialist. For example, it is necessary to see an ophthalmologist in the case of optic nerve hypoplasia, or a gynaecologist for uterine hypoplasia.