Turner syndrome (TS), sometimes referred to as congenital ovarian hypoplasia syndrome is a chromosomal disorder that is the most common sex chromosomal abnormality affecting girls and women.
It occurs in about 1 out of every 5000 live female births and affects all races and regions of the world equally. Turner syndrome is a genetic disorder, but it’s usually not inherited, except in very rare cases.
The name "Turner’s syndrome" comes from Dr. Henry Turner, the physician who first described the collection of its findings in 1938. However, it was not until 1959 that the cause of Turner syndrome was identified. This is the presentation on it.
3. INTRODUCTION TO TURNER’S SYNROME
Turner syndrome (TS), sometimes referred to as
congenital ovarian hypoplasia syndrome is a
chromosomal disorder that is the most common sex
chromosomal abnormality affecting girls and women.
It occurs in about 1 out of every 5000 live female births
and affects all races and regions of the world equally.
Turner syndrome is a genetic disorder, but it’s usually not
inherited, except in very rare cases.
The name "Turner’s syndrome" comes from Dr. Henry
Turner, the physician who first described the collection of
its findings in 1938. However, it was not until 1959 that
the cause of Turner syndrome was identified.
4. CAUSES
Chromosomes are found in the nucleus of all body cells.
They carry the genetic characteristics of each individual and
they come in pairs. We receive one copy from each parent.
If you're female, you were born with two X chromosomes. If
you're a male, you are born with one X and one Y
chromosome. Turner Syndrome occurs when one of the X
chromosomes is missing, either partially or completely.
It takes place when an abnormal egg(22, 0) is fertilized by a
normal egg(22, X) or a normal egg(22, X) is fertilized by an
abnormal egg(22, 0). Because she is missing part or all of a
chromosome, certain genes are missing. The loss of these
genes leads to the symptoms of Turner syndrome.
5. SYMPTOMS OF TURNER’S
The patients with this disorder show different symptoms. A few of
which are listed as follows:
Shield-shaped thorax with thick and bulging chest, breast hypotrophy,
and widely spaced nipples.
They are sterile and have underdeveloped ovaries and breasts and a
small uterus.
Don’t go through menstrual cycles or puberty.
Fingernails and toenails that are soft, narrow, and turned upward.
Hands and feet are puffy and often swollen at birth.
High and narrow palate.
Slow growth rate and short stature.
Increased risk of other disorders like ADHD and autism and may
possess abnormal intelligence
6. TYPES OF TURNER’S SYNDROME
The types of turner’s syndrome (TS) are:
Monosomy X: Each cell has only one X chromosome instead of two. About 45% of people
with TS have this type. It comes from the mother’s egg or the father’s sperm randomly
forming without an X chromosome. After fertilization, the baby’s cells also contain this
defect.
Mosaic Turner syndrome: Also called 45, X mosaicism, this type makes up about 30% of
Turner syndrome cases. Some of the baby’s cells have a pair of X chromosomes, while other
cells only have one. It happens randomly during cell division early in pregnancy.
Inherited Turner syndrome: In rare cases, babies may have inherited TS, meaning their
parent (or parents) were born with it and passed it on. This type usually happens because of a
missing part of the X chromosome.
7. PREVENTION AND DIAGNOSIS
Prevention
Turner’s syndrome is a congenital problem, it happens when a random error
results in a missing or incomplete X chromosome. It is practically impossible to
prevent. Parents can't do anything to stop this from happening.
Diagnosis
A genetic test called a karyotype analysis can confirm a Turner syndrome
diagnosis. This test requires a blood draw. It can determine whether one of the X
chromosomes is fully or partially missing. A complete heart evaluation is also
part of the diagnosis.
8. CASE STUDY BY TURNER
Women with small stature, sexual infantilism, webbing of the neck, and cubitus valgus were
among the seven examples recorded by Henry Turner in 1938. Turner's Syndrome is the name he
gave to the condition. Turner's syndrome was discovered to be caused by the deletion of an X
chromosome or crucial sections of it in 1959. The existence of only one normal functional X
chromosome characterizes this condition. It's possible that the other sex chromosome is missing
or defective. The majority of those affected have a 45XO monosomy, however, an aberrant
chromosome or 45X mosaicism with another cell line can also meet the criterion. Turner's
syndrome newborns have a high rate of growth failure at birth.
Turner's syndrome manifests itself in a variety of ways, depending on who is affected. As a result,
whereas short stature and gonadal dysgenesis are nearly ubiquitous in Turner's disease, many
other organ systems are damaged to variable degrees and at various periods of life. Many
characteristics of the 45XO phenotype in the oral cavity have already been identified. Tooth
mobility and periodontal pockets, reduced tooth size, short mesiodistal dimensions of teeth,
prematurely erupted teeth, and numerous malocclusions are among them.
9. Aba living with turners bhanera yt ma search garda vids haru aauxa tesbata euta herera short ma lekhdyou
nabhaye yo text lai milayera lekha. Ani milxa bhane case sudy ko language alikati milaidyou ani point xuttauna
milxa bhane xuttau. Mile causes actual cause ko slide ma bhanda case study ma badi lekhyaxu so tesma alikati
milaula. Baki sab bhaiskayo. Ani font times new roman, size 20-24 rakha tyo bhanda badi chai najau.
CASE REPORT
A 21-year-old female reported to the Outpatient Department of Periodontics, Mamata Dental College and
Hospital, Khammam, with the chief complaint of multiple mobile teeth in the mouth since 1 year. On physical
examination, it was seen that the patient was of short stature and had webbed neck with a low hair line at the
back of the neck. Medical history revealed that the patient had been diagnosed with Turner's syndrome 5 years
back [Figure 1]. Ultrasound report of the abdomen revealed hypogonadism [Figure 2]. On intraoral examination,
the patient presented with midline diastema [Figure 3], high-arch palate [Figure 4], grade III mobility of maxillary
left first molar (tooth 26), maxillary left second premolar (tooth 25) and mandibular left central incisor (tooth 31),
grade II mobility of the mandibular left and right, first and second molars (teeth 36, 37, 46, 47) with a probing
depth of >8 mm except for tooth 47 that showed a probing depth of >10 mm. Clinical recession was not seen
except for tooth 31, which showed Miller's class II recession. Grade III furcation involvement was seen in teeth 26,
36, and 37. Grade I furcation involvement was seen in teeth 46 and 47.