About Carol Meerschaert

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So far Carol Meerschaert has created 123 blog entries.

Guide to Trisomy X

Article Title: Guide to Trisomy X

Author: Kathleen Erskine

Date of Publication: 2011

Kathleen Erskine, a graduate student in the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College conducted a study to identify the important aspects of 47, XXX/ 3X/ Triple X/ Trisomy X to discuss with girls when they first learn about their Trisomy X diagnosis. The end result of this study is this educational booklet for parents to give their daughter when they first tell her about Trisomy X.

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2018-09-04T12:38:16-04:00Categories: 47,XXX (trisomy x)|

The Challenges of Klinefelter’s

“The Klinefelter Syndrome: Current Management and Research Challenges”—From the scientific journal, Andrology, this article summarizes the concluding “Round Table Discussion” of the 2nd International Workshop on the Klinefelter Syndrome in Munster, Germany, March, 2016. Topics include syndrome characteristics, centers of competence for diagnosis and treatment, counseling, support groups, early screening, fertility, testosterone treatment, and basic research. Click here.

See also: Speaker Abstracts from the 2nd International Workshop on Klinefelter Syndrome March 2016 Münster, Germany.

2018-04-27T16:40:12-04:00Categories: Featured Research Articles|

A Klinefelter Update for Pediatricians

“Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome”—This nearly 30-page story in the journal Advances in Pediatrics is directed at pediatricians and family physicians who treat children, and who may thus come across patients with Klinefelter syndrome. It alerts them to the risks the condition carries for neurodevelopmental and psychological complications, and suggests that diagnosis rates are likely to spike sharply upward given advances in genetics and prenatal neonatal screening. Click here.

2018-04-27T16:40:23-04:00Categories: Featured Research Articles|

The Triple X Syndrome Phenotype

“Expanding the Phenotype of Triple X Syndrome: A Comparison of Prenatal Versus Postnatal Diagnosis” —This cross-sectional study was published in the American Journal of Medical Genetics. It describes the diagnosis, physical aspects, medical problems, and neurodevelopmental features in a large cohort of females with 47, XXX. Click here.

2018-04-27T16:40:32-04:00Categories: Featured Research Articles|

Exploring Klinefelter Syndrome

“The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults” — This research article examines the medical, psychological, and social challenges that arise in individuals with 47,XXY as well as providing practical recommendations for parents and professionals on how to meet these challenges. Click here.

2018-04-27T16:40:40-04:00Categories: Featured Research Articles|

Sibling Support

Recommended Reading: Tips From Parents and Adults for the benefit of others

Note:  These are unofficial recommendations from parents who have found these books, articles, websites and other resources helpful in some way.  When possible, we will provide an Amazon.com link for ease of purchase, a link to the description of the book, and a link to a description of the author.  Unless otherwise stated, AXYS is not involved in the sale, and we recommend that you shop around before making your purchase.

2017-08-14T16:11:30-04:00Categories: All Variations|

Neurocognitive research on 47,XXY

Title: Neurobehavioral and Psychosocial Issues in Klinefelter Syndrome

Authors: Daniel H. Geschwind and Elisabeth Dykens

Date of Publication: 2004

This is one of the “gold standard” research articles on 47,XXY neurocognitive implications. It contains pretty intense medical terminology but it would be recognized as excellent resource/reference material by physicians, educators, the courts, etc. It should help parents and others understand there are absolutely biological issues involved with potential problem behaviors that may be happening with someone that is 47,XXY.

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2018-07-09T17:06:37-04:00Categories: 47,XXY (Klinefelter)|

Comparing 47,XXY and 47,XYY boys

Title: An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome

Authors: Judith L. Ross, Martha P.D. Zeger, Harvey Kushner, Andrew R. Zinn, and David P. Roeltgen

Date of Publication: December 2009

A research article on comparing the similarities and differences in boys with 47,XXY and 47,XYY from a neurocognitive testing standpoint.

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2018-07-09T17:10:53-04:00Categories: 47,XXY (Klinefelter), 47,XYY|

Complexities of Hypogonadism

Article Title: Complexities of Hypogonadism

Author: Dr. Poochellam Muthalagu

Date of Publication: June 30, 2011

Dr. Poochellam Muthalagu looks at the primary and secondary reasons for hypogonadism and examines the different treatments available in this country.

Male hypogonadism is a clinical syndrome defined by low testosterone levels associated with sexual dysfunction, particularly diminished libido, mood disturbances, reduced lean body mass and increased adipose tissue mass.

A wide range of effective and well-tolerated treatment options exist. These include testosterone (T) gels and T patches. There is also a mucoadhesive sustained-release buccal tablet, but this is not available in Ireland. Intramuscular testosterone injections and subcutaneous depot implants (T pellets) are still the standard therapy.

Testosterone replacement therapy (TRT) can be individualised to enhance patient health and wellbeing. Screening and ongoing monitoring are necessary to ensure both the efficacy and safety of TRT, particularly prostate safety. Investigational agents, including selective androgen receptor modulators, may offer new pharmacodynamic and/or pharmacokinetic properties that enhance outcomes of TRT.

Male hypogonadism is defined as the failure of the testes to produce androgen, sperm or both. Although the disorder is exceedingly common, its exact prevalence is uncertain.

Testosterone production declines with advancing age; some 20 per cent of men older than 60 years and 30-40 per cent of men older than 80 years have serum testosterone levels that would be subnormal in their younger adult male counterparts.

This apparent physiologic decline in circulating androgen levels is compounded in frequency by permanent disorders of the hypothalamic-pituitary-gonadal axis. These include the transient deficiency states associated with acute stressful illnesses, such as surgery and myocardial infarction, and the more chronic deficiency states associated with wasting illnesses, such as cancer and acquired immunodeficiency syndrome (AIDS).

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2018-09-25T12:03:51-04:00Categories: 47,XXY (Klinefelter)|
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