Turner Syndrome X Chromosome Disorder Causes Female Growth, Reproductive Symptoms, Treatment
Turner syndrome is a health condition affecting females only. It’s a chromosomal disorder caused by a defect or absent X chromosome.
Without the disorder, females have paired X chromosomes. Most commonly with Turner syndrome, a genetic error causes you to be born without an X chromosome in each cell.
However, Turner syndrome X chromosome disorder symptoms can be caused by an error in cell division wherein the cells have both X chromosomes, but one copy is altered. Or one copy has some Y chromosome material, which is a male only chromosome.
Turner syndrome’s X chromosome errors take place spontaneously. So the risk of having two female children with this disorder is highly unlikely.
Turner syndrome disorder causes numerous symptoms related to growth, development and female reproductive system. The signs and symptoms that you may have this X chromosome disorder include:
- low hairline
- broad chest
- knock knees
- short stature
- droopy eyelids
- narrow fingernails
- high, narrow palate
- wide, web-like neck
- social situation difficulty
- receding, small lower jaw
- increased number of moles
- spatial, math learning disability
- delayed growth, no growth spurts
- increased bone fractures incidence
- hands & feet swelling, lymphedema
- failure to start symptoms of puberty
For some females, Turner syndrome may only cause mild symptoms. Therefore, the presence of the X chromosome disorder may not be noticed until adolescents.
Symptoms at puberty may be more pronounced due to ovarian failure, which results in little or no production of estrogen and progesterone. The failure to produce these hormones causes reproductive symptoms like:
- infertility
- amenorrhea
- no breast growth
- stalled sexual development
- menstrual cycle stops after a period menstruation
And although reproductive capability may be wanting, the reproductive organs are totally normal. Hormone replacement therapy and fertility treatment can help overcome some of these female reproductive challenges.
Because Turner syndrome can affect the healthy growth of some your body’s systems, some of these complications may occur:
- stroke
- diabetes
- hypertension
- heart defects
- dental issues
- celiac disease
- high risk pregnancies
- cardiovascular disease
- inflammatory bowel disease
- immune system disorders ~ hypothyroidism
- kidney problems ~ may increase UTI frequency
- vision problems ~ strabismus, hyperopia, cataracts
- skeletal problems ~ scoliosis, kyphosis, osteoporosis
- hearing loss ~ due to gradual nerve function loss, frequent middle ear infections
Turner syndrome may increase your risk of depression, anxiety and ADHD as well.
The dominant treatment for nearly all girls with this X chromosome disorder are hormone therapies of:
- estrogen
- progesterone
- growth hormone
And rarely can a female with Turner syndrome get pregnant without fertility treatment.
Because Turner syndrome is a genetic disorder, there is no cure. But it’s important to get treatment started early in an effort to foster healthy growth and reproductive development.
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