Hypoplasia

What is hypoplasia?

The term hypoplasia is used to indicate a tissue or organ that is underdeveloped or incompletely developed: this means that the number of cells is insufficient or below normal.

Depending on the diseased tissue affected, there are different types of hypoplasia. Among the most common are the following:

  • Hypoplasia of the testis.
  • Hypoplasia of the optic nerve
  • Hypoplasia of the enamel (also known as Turner’s tooth).
  • Both cardiac hypoplasias (hypoplastic left heart syndrome and hypoplastic right heart syndrome)
  • Hypoplasia of the thymus
  • Uterine hypoplasia

Symptoms of hypoplasia

Symptoms of hypoplasia vary greatly depending on the tissue affected by this disease. For example:

  • Optic nerve hypoplasia is characterized by visual difficulties, nystagmus and strabismus.
  • Enamel hypoplasia makes the teeth hypersensitive to heat or cold.
  • Uterine hypoplasia presents with symptoms such as first menstrual cycle after age 16, painful and irregular menstruation, narrow pelvis and chest, and poorly developed mammary glands.

Optic nerve hypoplasia causes visual difficulties.

Diagnosis of hypoplasia

As with the symptoms, the diagnosis also changes according to the type of hypoplasia: for example, the diagnosis of optic nerve is easily identified with an ophthalmoscope and MRI, while the diagnosis of uterine hypoplasia is made during the gynecological examination, which is then deepened by ultrasound.

What are the causes of hypoplasia?

The causes are of different nature depending on the tissue affected by hypoplasia: one of the common causes, however, may be the genetic factor and family history of the disease.

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Which specialists should you contact?

The specialist you should contact to treat hypoplasia varies depending on its typology. For example, an ophthalmologist should be consulted in the case of optic nerve hypoplasia, a gynecologist in the case of uterine hypoplasia, and a dentist in the case of enamel hypoplasia.