Rare Diseases: A Detailed Account on Turner Syndrome

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Turner syndrome is a rare disease that is associated with females. It’s a chromosomal disease in which female lacks one of the two X chromosomes. It greatly affects the development and growth of females. Turner syndrome hinders the stage of puberty in females unless they receive some sort of therapy for it.

In order to create a chance of fertility for them they usually have to undergo hormonal therapy. Despite these disability girls with this syndrome have normal intelligence and are good at verbal and non-verbal skills.

There a lot of clues and signs that can predict whether a girl is facing it or not. Some symptoms become visible even before birth during a prenatal ultrasound and during childhood when their growth process as compared to other children slows down, however, few girls don’t show any symptom until they reach the stage of puberty; absence of menstruation cycle, underdeveloped organs or infertility.
symptoms of turner syndrome

Symptoms of Turner Syndrome:

There are some visible signs and symptoms that indicate the presence of Turner syndrome in females:

  • A short build of a girl
  • Dysfunctional ovaries
  • Imbalance hormones due to which eggs don’t form resulting in no menstrual period
  • Wide/Broad chest
  • The thick layered skin around the neck area (Webbed neck) can be formed
  • Swollen feet and hands
  • Elbow deformity
  • Heart and Kidney disease

These are alarming signs that can disrupt the development of a female body.

Complications Associated with Turner Syndrome:

There are some risk factors that are associated with this syndrome. Some of the below-mentioned ones will help you understand the complications that a person has to go through if she is suffering from it:

  • Cardiac Problems: Girls born with this syndrome usually have a defect in their heart. They can have abnormal heart structure that can lead to serious complications when a girl grows. Consult with the best cardiologist in Karachi, Lahore or other main cities of Pakistan via Marham.pk and get help regarding these problems.
  • High Blood Pressure: Females suffering from it have high blood pressure problem which can badly affect their heart and blood vessels.
  • Loss of hearing: A child with Turner syndrome faces frequent middle ear infections during their childhood and some might lose the sense of hearing because of it. regular visits to an ENT might become essential. You can book an appointment with the best ENT specialist in Karachi, Lahore or other main cities of Pakistan via marham.pk.
  • Complications in Pregnancy: Due to underdeveloped ovaries, a girl doesn’t get her menstrual cycle during her age of puberty which makes a female infertile.

complications of turner syndrome

  • Dysfunctional Thyroid: Women with this disease have an underactive thyroid problem due to which they become more prone to diabetes or even suffers from inflammatory bowel disease.
  • Kidney Problem: Due to the malfunction of kidneys women becomes vulnerable to Urinary tract infections or heart diseases. Looking for a nephrologist? Marham.pk has enlisted the best nephrologists from Karachi, Lahore and all other main cities of Pakistan. You can consult and book appointments easily.

Despite all the above-mentioned risks and complications, a female shouldn’t lose hope. This disease doesn’t impact the intelligence of a woman and she can thrive well in society.


Its treatment is possible; if this syndrome is diagnosed earlier hormonal therapy can be done on a female to control the symptoms of it. In addition to estrogen replacement therapy along with injections for growth hormone can be introduced into the body of a patient.

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Amina Hameed
Amina is an MBA from Lahore school of economics who had also been a Former Cultural ambassador of Pakistan (USEFP). Amina writes to throw a light on the importance of healthcare system in Pakistan. She is indeed a passionate writer when comes to health, fitness and lifestyle.