GEN PATHOLOGY

TURNER
SYNDROME
ABRENICA, ALVAREZ, DALANON, MARCAIDA, TINAJA

CASE REPORT INTRODUCTION

12 years old girl was reported to
the outpatient department of Turner syndrome is a rare chromosomal
pediatrics in our hospital with the disorder that affects females. The
complaints of recurrent fever, disorder is characterized by partial or
cough, runny nose and not complete loss (monosomy) of one of the
growing well in comparison to second sex chromosomes. Turner
her peers. On physical syndrome is highly variable and can differ
examination, the girl was found dramatically from one person to another.
having short stature and webbed Affected females can potentially develop
neck with low hair line, low set a wide variety of symptoms, affecting
ears, shield chest, cubitus valgus many different organ systems.
and high arched palate
Clinical Findings
She had no family history of atopy or had any abnormal chest findings.
Investigations revealed high FSH (17.8 m IU/ml), LH (1.54 m IU/ml), normal
thyroid function tests (TSH 1.82 µIU/ml, FT4 1.56ng/dl) and normal testosterone
(0.16ng/ml). Ultrasound showed right ovary 2cm x 0.9cm x l.9cm and volume
l.3cm3, left ovary was not visualized.

On the basis of clinical view and laboratory findings she was diagnosed as a
case of Turner syndrome. The patient was managed symptomatically and given
consultation regarding fertility options, social integration, self-fulfillment and
satisfaction with one's own appearance.

Discussion

Turner's syndrome is the most common sex chromosome abnormality in

females which was first described 60 years ago, Affecting approximately
3% of all females conceived. About 98-99% of Turner's syndrome fetuses
are aborted and 20% of all spontaneously aborted fetuses have Turner' s
syndrome. A number of characteristic clinical features involving the eyes,
ears , mouth, skin, neck and skeleton lead to a suspicion of this syndrome
in early life. Turner's syndrome can be diagnosed before birth through
chromosomal analysis on cells from amniotic fluid
 Pathophysiology of Turner's Syndrome

Clinically, patients with Turner syndrome

are short, and they have a small chin,
prominent folds of skin at the inner
corners of the eyes (epicanthal folds),
low-set ears, a webbed neck, and a
shieldlike chest. Individuals with Turner
syndrome also have an increased
incidence of anomalies of the heart and
large blood vessels. Both the internal and
the external genitalia are infantile, and
the ovaries are only “streaks” of
connective tissue. The diagnosis may be
made during infancy or childhood on the
basis of these anomalies or at puberty
when the individual fails to develop
secondary sex characteristics or has no
menses. In genetic terms, Turner
syndrome is common: one-tenth of all
spontaneously aborted fetuses have a
45,X chromosome constitution, and only
3 percent of affected fetuses survive to
ter
Symptoms
The most common signs in almost all girls,
teenagers and young women with Turner
syndrome are short stature and ovarian
insufficiency due to ovarian failure that may Causes
have occurred by birth or gradually during
childhood, the teen years or young
Most people are born with
adulthood. Signs and symptoms of these two sex chromosomes.
include: Boys inherit the X
chromosome from their
Slowed growth mothers and the Y
No growth spurts at expected times in chromosome from their
childhood fathers. Girls inherit one X
Adult height significantly less than might
chromosome from each
be expected for a female member of
parent. In girls who have
the family
Failure to begin sexual changes
Turner syndrome, one copy
expected during puberty of the X chromosome is
Sexual development that "stalls" during missing, partially missing or
teenage years altered.
Early end to menstrual cycles not due to
pregnancy
For most women with Turner syndrome,
inability to conceive a child without
fertility treatment
Complications Treatments
Heart Problems There's no cure for Turner syndrome
High Blood Pressure but many of the associated
Hearing Loss symptoms can be treated:
Vision Problems
Kidney Problems Health checks.
Skeletal Problems Growth hormone therapy.
Mental Health Issues Oestrogen and progesterone
Learning Disabilities replacement therapy
Infertility Fertility
Pregnancy Complications Psychological therapy
Learning Disabilities Learning difficulties
Help and support.
Autoimmune Disorder

Conclusion References:
Patients need to undergo a psychiatric (PDF) A Classic Case of Turner
or psychological consultation which is Syndrome. (researchgate.net)
beneficial particularly for social Retrieved From; Turner Syndrome
Clinical Presentation: History,
integration, self-fulfillment and
Physical, Causes (medscape.com)
satisfaction with one's own appearance.
Retrieved from; Turner syndrome -
A multidisciplinary intervention is Treatment - NHS (www.nhs.uk)
strongly suggested for patients affected Retrieved from; Turner syndrome -
by Turner's syndrome, particularly in Symptoms and causes - Mayo Clinic
adolescent age.