Klinefelter syndrome is caused by the presence of at least one extra X chromosome in males, resulting in a 47,XXY karyotype. It is one of the most common sex chromosome aneuploidies, occurring in around 1 in 500-1000 live male births. Individuals with Klinefelter syndrome exhibit physical traits such as tall stature, small testes, gynecomastia, and cognitive/behavioral issues. Diagnosis can be made through karyotype analysis of cells showing the extra X chromosome. Treatment involves testosterone therapy to promote secondary sex characteristics, though it does not treat infertility issues associated with the condition.
07-08-2013
Faculty of medicine of Syrian Private University.
Please LIKE my page! http://facebook.com/NawrasAlHalabi
متلازمة كلاينفلتر وتقانات أطفال الأنابيب
.كلية الطب البشري في الجامعة السورية الخاصة
07-08-2013
Faculty of medicine of Syrian Private University.
Please LIKE my page! http://facebook.com/NawrasAlHalabi
متلازمة كلاينفلتر وتقانات أطفال الأنابيب
.كلية الطب البشري في الجامعة السورية الخاصة
Part 6 of "Science & Sexuality." What can we learn about sexuality from XX individuals who have atypically high testosterone influence during fetal development? What can they teach us about the development of sexual identity and sexual orientation?
AIS is a genetic condition where affected people have male chromosomes and male gonads with complete or partial feminization of the external genitals
An inherited X-linked recessive disease with a mutation in the Androgen Receptor (AR) gene resulting in:Functioning Y sex chromosome and abnormality on X chromosome
Part 5 of "Science & Sexuality." What can we learn about sexual development and sexual identity from XY individuals with testes who have hormone receptor molecules that don't work at all or only partly?
Fragile X associated primary ovarian insufficiency
Fragile X associated decreased ovarian reserve
Fragile X syndrome and reproduction
evidence based
Dr.Anu.M - Mch Resident - Department of Reproductive Medicine and Surgery
Part 6 of "Science & Sexuality." What can we learn about sexuality from XX individuals who have atypically high testosterone influence during fetal development? What can they teach us about the development of sexual identity and sexual orientation?
AIS is a genetic condition where affected people have male chromosomes and male gonads with complete or partial feminization of the external genitals
An inherited X-linked recessive disease with a mutation in the Androgen Receptor (AR) gene resulting in:Functioning Y sex chromosome and abnormality on X chromosome
Part 5 of "Science & Sexuality." What can we learn about sexual development and sexual identity from XY individuals with testes who have hormone receptor molecules that don't work at all or only partly?
Fragile X associated primary ovarian insufficiency
Fragile X associated decreased ovarian reserve
Fragile X syndrome and reproduction
evidence based
Dr.Anu.M - Mch Resident - Department of Reproductive Medicine and Surgery
details of klinfelter syndrome, noonan syndrome and diseases of pitutary and diseases of hypogonadism and cause of hypogonadism and primary hypogonadism and secondary hypogonadism
hypogonadism and diseases of hypogonadism and primary diseases of hypogonadism and secondary diseases of hypogonadism and diseases of gonads klinfelter syndrome and noonan syndrome and kallman syndrome
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also have primary hypogonadism (decreased testosterone
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
IOSR Journal of Pharmacy and Biological Sciences(IOSR-JPBS) is an open access international journal that provides rapid publication (within a month) of articles in all areas of Pharmacy and Biological Science. The journal welcomes publications of high quality papers on theoretical developments and practical applications in Pharmacy and Biological Science. Original research papers, state-of-the-art reviews, and high quality technical notes are invited for publications.
Genomes and genetic_syndromes_affecting_movementsHimani Kaushik
Genomes and genetic syndromes affecting movements
Mendel’s work on inheritance in Pisum sativum was first published in 1866 and gave the law of inheritance. He described the concept of Modern Genetics. While Mendel’s research was with pisum sativum, the same principle of heredity that was discovered by Mendelian also apply to human and other animals because of the mechanism of heredity same for all complex forms of life.
Rosalind Franklin and Maurice Wilkins contribute to the discovery of the double-helix structure of DNA and James Watson and Francis Crick solved the structure of DNA, starting the new branch of molecular biology.
This project is completed in 2003 and expanded knowledge about the genetic basis for diseases and congenital malformation.
The impact of this project is just being realized, with new research into diagnostic and treatment techniques for genetic disorders.
According to WHO it occurs due to a defect in a single gene or set of genes.
With the discovery in 1956 that the correct chromosome number in humans is 46, the new era of clinical
cytogenetics began its rapid growth. During the next few years, several major chromosomal
syndromes with altered numbers of chromosomes were reported, i.e. Downsyndrome (trisomy21),
turner syndrome (45,x) and klinefelter syndrome (47,xxy). Since then it has been well established that
chromosome abnormalities contribute significantly to genetic disease resulting in reproductive loss,
infertility, stillbirths, congenital anomalies, abnormal sexual developmentmental retardation and
pathogenesis of malignancy.specific chromosome abnormalities have been associated with over 60
identifiable syndromes. They are present in at least 50% of spontaneous abortions, 6% of stillbirths,
about 5% of couples with two or more miscarriages and approximately 0.5% of newborns. In women
aged 35 or over, chromosome abnormalities are detected in about 2% of all pregnancies. Some of the
abnormalities and their clinical consequences will be Discussed in the following sections.
Nutraceutical market, scope and growth: Herbal drug technologyLokesh Patil
As consumer awareness of health and wellness rises, the nutraceutical market—which includes goods like functional meals, drinks, and dietary supplements that provide health advantages beyond basic nutrition—is growing significantly. As healthcare expenses rise, the population ages, and people want natural and preventative health solutions more and more, this industry is increasing quickly. Further driving market expansion are product formulation innovations and the use of cutting-edge technology for customized nutrition. With its worldwide reach, the nutraceutical industry is expected to keep growing and provide significant chances for research and investment in a number of categories, including vitamins, minerals, probiotics, and herbal supplements.
Richard's entangled aventures in wonderlandRichard Gill
Since the loophole-free Bell experiments of 2020 and the Nobel prizes in physics of 2022, critics of Bell's work have retreated to the fortress of super-determinism. Now, super-determinism is a derogatory word - it just means "determinism". Palmer, Hance and Hossenfelder argue that quantum mechanics and determinism are not incompatible, using a sophisticated mathematical construction based on a subtle thinning of allowed states and measurements in quantum mechanics, such that what is left appears to make Bell's argument fail, without altering the empirical predictions of quantum mechanics. I think however that it is a smoke screen, and the slogan "lost in math" comes to my mind. I will discuss some other recent disproofs of Bell's theorem using the language of causality based on causal graphs. Causal thinking is also central to law and justice. I will mention surprising connections to my work on serial killer nurse cases, in particular the Dutch case of Lucia de Berk and the current UK case of Lucy Letby.
This presentation explores a brief idea about the structural and functional attributes of nucleotides, the structure and function of genetic materials along with the impact of UV rays and pH upon them.
THE IMPORTANCE OF MARTIAN ATMOSPHERE SAMPLE RETURN.Sérgio Sacani
The return of a sample of near-surface atmosphere from Mars would facilitate answers to several first-order science questions surrounding the formation and evolution of the planet. One of the important aspects of terrestrial planet formation in general is the role that primary atmospheres played in influencing the chemistry and structure of the planets and their antecedents. Studies of the martian atmosphere can be used to investigate the role of a primary atmosphere in its history. Atmosphere samples would also inform our understanding of the near-surface chemistry of the planet, and ultimately the prospects for life. High-precision isotopic analyses of constituent gases are needed to address these questions, requiring that the analyses are made on returned samples rather than in situ.
2. Individuals with Klinefelter
syndrome have at least
two X chromosome and at
least one Y chromosome.
So it is a trisomic
syndrome.
47,XXY is the most
common sex
chromosome aneuploidy
in males and the second
most common condition
caused by the presence
of extra chromosomes.
3. First indentified in 1942 and by the
late 1950s the cause of
Klinefelter syndrome was
discovered.
and his
coworkers at the Massachusetts
General Hospital in Boston
published a report about 9 men
who had enlarged breasts, sparse
body and facial hairs , small testes
and an inability to produce sperm.
4. • The extra X
chromosome is
retained because of a
nondisjunction event
during:
As it is a random event
during reproduction so it
is not a inherited type of
disorder.
5. • Nondisjunction occurs when homologous
chromosomes ( X and Y sex chromosomes) fail to
separate, producing a sperm with an X and Y
chromosome.
• fertilizing a normal (X) egg produces an XXY
offspring.
• The XXY chromosome arrangement is one of the
most common genetic variations from the XY
karyotype, occuring in about 1 in 500 live male
births.
6. • In nondisjunction during
meiosis 1, the homozygous
chromosome fail to pair and
exchange genetic material
during the metaphase plate.
The homozygous
chromosomes then enter the
same cell. When the cell
further divides in meiosis 2,
the resulting gamete (sperm in
nondisjunction during meiosis
1) will have a XY chromosome
configuration.
7. • Nondisjunction will occur when sister
chromatids on the sex chromosome , in
this case a X and a X , fail to separate.
• A XX egg is produced which , when
fertilized with a Y sperm yields XXY
offspring.
8. In nondisjunction during meiosis 2,
the homozygous chromosomes do
pair and swap genetic material
during the metaphase plate. They
then separate again during
meiosis 2. During meiosis 2, one
of the chromosome pairs
separates successfully. The result
is a gamete with only one
chromatid. The other chromosome
pair does not further separate into
a chromatid. Instead, the
chromosome enters one gamete
(the egg in nondisjunction during
meiosis 2). The resulting gamete
will have an XX chromosome
configuration.
9. • This syndrome is evenly spread in all ethnic
groups , has a prevalence of 1-2 subjects
every 1000 males in general population.
• 3.1% of infertile males have Klinefelter
syndrome.
10. • Males with klinefelter syndrome
may have a mosaic 47,XXY
/46,XY constitutional karyotype
and varying degrees of
spermatogenic failure.
• Mosaicism 47,XXY /46,XX with
clinical features suggestive of
Klinefelter syndrome is very rare.
Thus far, only about 10 cases
have been described in literature.
• 48,XXYY and 48 XXXY occur in 1
in 18000-50,000 male births.
• They are mostly azospermic and
oligospermic.
11. BABIES
Weak muscles
Slow motor
development
Delay in speaking
Quiet and docile
personality
Problems at birth ,
such as testicles that
haven't descended
into scrotum
12. BOYS AND TEENAGERS:
Taller than average stature
Longer legs , shorter torso and
broader hips compared with
other boys
absent, delayed or incomplete
puberty
Small and firm testicles(
hypogonadotropism)
Lower sperm count and low sex
drive
Small penis
Enlarged breast tissue (
gynecomastia)
Weak bones
Problems with reading , writting
and spelling
Also have attention problems
13. Adulthood
Tall body stature
Decreased facial and body hairs( low tesrosterone)
Increased LH and FSH
increased of fatty tissue especially in abdomen and
pelvis
Osteoporosis
Increased risk of breast cancer, autoimmune
diseases and hypothyroidism
14. Typical testicular histology
in KS is with hyalinization of
seminiferous tubules with
loss of germ cells and
Leydig cell hyperplasia. The
hyalinization of the
seminiferous tubules
probably occurs at
midpuberty
At the beginning of puberty,
the levels of FSH, LH, and
testosterone are normal,
but FSH and LH start to
increase and testosterone
to decline compared with
normal boys .
In adult KS patients, levels
of testosterone, insulin-like
factor 3 , inhibin B, and
anti-Müllerian hormone are
decreased, whereas FSH
and LH are elevated and
17β-estradiol and SHBG
are comparable to controls.
Sexual dysfunction in KS is
probably high, but it seems
to be linked to low
testosterone
15. • Andrew R. Zinn, Purita
Ramos, Frederick F. Elder, Karen
Kowal, Carole Samango-
Sprouse, Judith L. Ross
• The Journal of Clinical
Endocrinology & Metabolism,
Volume 90, Issue 9, 1 September
2005, Pages 5041–
5046, https://doi.org/10.1210/jc.20
05-0432
The AR gene encodes a ligand-
dependent transcription factor and
has a highly polymorphic
CAGn trinucleotide repeat in the
coding sequence of the first exon. AR
CAGn repeat length variation has
been associated in vivo with
Dysregulation of X-Linked Gene
Expression in Klinefelter’s Syndrome
and Association With Verbal Cognitio
Marquis P. Vawter, Philip D. Harvey,
and Lynn E. DeLisi
Am J Med Genet B Neuropsychiatr
Genet. 2007 Sep 5; 144(6): 728–734.
doi: 10.1002/ajmg.b.30454
PMCID: PMC2094046
KS individuals often show language
impairment and the phenotype might be
due to overexpression of genes on the
extra X chromosome(s). There were 129
differentially expressed genes (DEGs) in
KS group The DEGs included 14 X
chromosome genes which were
significantly over-represented. The Y
chromosome had zero
DEGs.Overexpression of XIST was
found in KS compared to XY controls
suggesting that silencing of many genes
on the X chromosome might occur in KS
similar to XX females.
16. • FGFR3-Fibroblast growth factor receptor 3 on chr 4
{MIM134934} alleviate the destruction of Seminiferous
tubules.
• GH1-Growth hormone 1 on chr 17 {MIM 139250}
• IKBKG-Inhibitor of nuclear factor kappa B kinase on chr
X {MIM 300248} cells succeptible to apoptosis leading to
incontinentia pigmenti.
• GPER1-G protein coupled estrogen 1 on chr 7 {MIM
601805} regulate testis development and
spermatogenesis.
• INHBA-Inhibin subunit beta A on chr 7 {MIM 147290}
regulate FSH secretion in males.
• GAS5- Growth arrest specific 5 on chr1 , development of
imflammatory and autoimmune diseases.
17. • INSL3- Insulin like 3 on chr.19 {MIM 146738}
secreted by Leydig cells and role in bone health.
• AZF1- Azospermia factor 1 {MIM 415000}
• ESR1- Estogen receptor 1 on chr 6 {MIM
133430}
• SERPINE1-Serpin family E member 1 on chr7
{MIM 173360} Play role in thromboembolism
and lead to leg ulcers in KS patients
• ESR2- Estrogen receptor 2 on chr14 {MIM
601663}
And many more like NPPC , FSHB, AURKC,MT-
ND6 and LDOC1.
18. • The greatest chances to make Klinefelter's
diagnosing are in following times of life:
• Before or shorty after birth
• Early childhood 5%
• Adolescence 15%
• Adulthood
19. • This is the standard
diagnostic method for
the analysis of the
chromosomes's
karyotype on
lymphocytes.
• To confirm mosaicism
, it is possible to
analyze the karyotype
using dermal
fibroblasts and
testicular tissue.
20.
21. • Blood or urine samples
can reveal abnormal
hormone levels that
are a sign of Klinefelter
syndrome.
In patients with
Klinefelter’s
syndrome, blood
tests
characteristically
show a low
testosterone level,
high sex hormone
binding globulin
(SHBG) and raised
gonadotrophins.
22. • Many males have been
diagnosed through
Aminocentesis or
Chorionic villus
sampling(CVS).
• In aminocentesis , a
sample of the fluid
surrounding the fetus is
withdrawn
• CVS is similar to
aminocentesis. The
procedure is done in the
first trimester and the fetal
cells needed for
examination are taken
from the placenta.
23.
24. • Testosterone treatment
should begin at puberty.
Can normalize body proportions
and promote development of
normal secondary sex
characteristics changes such as
developing a deeper voice ,
growing facial and body hair and
increasing muscle mass and
penis size.
but does not treat infertility,
gynecomastia and small testes.
25. • Over 100 to many successful
pregnancies hace been reported
using IVF technology with
surgically removed sperm material
from men with Klinefelter
syndrome.
• ICSI is for minimal sperm
production patient. During ICSI ,
Sperm is removed from testicle
with a biopsy needle and injected
directly into egg.
A family
therapist, counsellor or psychologist
can help work through emotional
issues.
28. • KS may be associated with widespread changes in the methylome of both
blood and brain tissue. These genome-wide alterations in DNA methylation
may play a role in the biological mechanisms underlying the clinical KS
phenotype by affecting chromatin structure and gene expression and
thereby potentially be responsible for the development of phenotypical traits
and diseases.
• The only gene associated with the KS phenotype is SHOX5. It is localized in
the pseudoautosomal region of the sex chromosomes and likely causes the
tall stature in KS due to the presence of a third copy.
• The systems biology approaches together pointed to novel aspects of KS
disease phenotypes including perturbed Jak-STAT pathway, dysregulated
genes important for disturbed immune system (IL4), energy balance (POMC
and LEP) and erythropoietin signalling in KS
29. • A new assessment tool is being developed by
researchers at Columbia University Medical
Center (CUMC) to help pediatricians detect
the physical traits of the syndrome. The tool
could pave the way for early interventions that
prevent and treat a range of physical,
psychological, social, and cognitive
impairments. The study was published in The
Journal of Pediatrics.
• The development of the Klinefelter Physical
Phenotype Index (KSPHI) made it possible
for this study to be the first to link the physical
traits of Klinefelter syndrome with
psychosocial function in children," says study
co-author Dr. Fennoy. "This new assessment
tool will help primary care providers identify
those who are at greatest risk for neuro-
developmental problems."
Journal Reference:
Sharron Close, Ilene
Fennoy, Arlene
Smaldone, Nancy
Reame. Phenotype and
Adverse Quality of Life in
Boys
with Klinefelter Syndrome.
The Journal of Pediatrics,
2015; 167 (3): 650
DOI: 10.1016/j.jpeds.2015
.06.037
30. • Thyroid function in Klinefelter
syndrome: a multicentre study
from KING group
• G. Balercia,
• M. Bonomi,
• […]
• KING group
• Journal of Endocrinological
Investigation volume 42, pages
1199–1204(2019)
• DOIhttps://doi.org/10.1007/s406
18-019-01037-2
Conclusions
• We demonstrated in KS no
etiopathogenic link to
hypogonadism or change in the set
point of thyrotrophic control in the
altered FT4 production. The
prevalence of HT in KS was similar
to normal male population, showing
absence of increased risk of HT
associated with the XXY karyotype.
31. • American Journal of Medical Genetics Part C: Seminars in Medical
Genetics
• Volume 184, Issue 2
• RESEARCH REVIEW
• Morbidity in Klinefelter syndrome and the effect of testosterone
treatment
• Simon Chang
• Anne Skakkebæk
• Shanlee M Davis
• Claus H Gravholt
• First published: 04 June 2020
• https://doi.org/10.1002/ajmg.c.31798