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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).

Rick Frith2018-09-25T12:03:51-04:00Categories: 47,XXY (Klinefelter)|

Klinefelter Syndrome and Other Sex Chromosomal Aneuploidies

Article Title: Klinefelter syndrome and other sex chromosomal aneuploidies

Author: Jeannie Visootsak and John M. Graham Jr.

Date of Publication: October 24, 2006

The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births. The incidence of 49,XXXXY is 1 per 85,000 to 100,000 male births. In addition, 46,XX males also exist and it is caused by translocation of Y material including sex determining region (SRY) to the X chromosome during paternal meiosis. Formal cytogenetic analysis is necessary to make a definite diagnosis, and more obvious differences in physical features tend to be associated with increasing numbers of sex chromosomes. If the diagnosis is not made prenatally, 47,XXY males may present with a variety of subtle clinical signs that are age-related. In infancy, males with 47,XXY may have chromosomal evaluations done for hypospadias, small phallus or cryptorchidism, developmental delay. The school-aged child may present with language delay, learning disabilities, or behavioral problems. The older child or adolescent may be discovered during an endocrine evaluation for delayed or incomplete pubertal development with eunuchoid body habitus, gynecomastia, and small testes. Adults are often evaluated for infertility or breast malignancy. Androgen replacement therapy should begin at puberty, around age 12 years, in increasing dosage sufficient to maintain age appropriate serum concentrations of testosterone, estradiol, follicle stimulating hormone (FSH), and luteinizing hormone (LH). The effects on physical and cognitive development increase with the number of extra Xs, and each extra X is associated with an intelligence quotient (IQ) decrease of approximately 15–16 points, with language most affected, particularly expressive language skills.

Rick Frith2018-09-06T12:19:54-04:00Categories: 47,XXY (Klinefelter), 48,XXYY, Other Variations|

Letter to the Editor: In response to Wall Street Journal and NY Times

In response to:
“New Tests for Newborns, And Dilemmas for Parents” by Amy Dockser Marcus
Wall Street Journal, July 26, 2011

“Test Can Tell Fetal Sex at 7 Weeks, Study Says” by Pam Belluck
NY Times, August 9, 2011

AXYS submitted this letter to the editor:

“AXYS serves individuals who have one of the most prevalent and yet confoundingly unknown genetic conditions, sex chromosome aneuploidy. The most common of these conditions is 47,XXY, also known as Klinefelter Syndrome. There are many other aneuploidies, affecting 1 in 500 males and females in total. Life is certainly worth living for these individuals. Early diagnosis leads to effective interventions that vastly improve lives, yet the majority of individuals with these conditions go undiagnosed for years—even a lifetime. Misdiagnosis and resulting mistreatment are common and lead to unwarranted suffering. One man spent 52 years diagnosed with bipolar disorder only to discover by accident he is 47,XXY. He was transformed from suicidal to exuberant when he received the right treatments. Undiagnosed individuals are susceptible to myriad comorbid conditions, such as heart disease and cancers, which can strike by surprise. Those with an accurate diagnosis can watch for and address these problems before they become life-threatening. AXYS strongly urges rapid development and deployment of early diagnostic testing to detect these conditions. In the case of X and Y chromosome variations, ignorance most definitely is NOT bliss.”

Please support our effort by submitting your letter to the Wall Street Journal at these two email addresses:

Rick Frith2017-09-23T15:23:52-04:00Categories: All Variations|

Gender Considerations with 47,XXY

Article Title: Thinking outside the square: considering gender in Klinefelter syndrome and 47, XXY

Authors: A.S. Herlihy, L. Gillam

Date of Publication: March 2011

www.ncbi.nlm.nih.gov/pubmed/21453406

International Journal of Andrology ｪ 2011 European Academy of Andrology, 1–2

A common genetic condition affecting males, Klinefelter syndrome (KS), is often described as ‘The Forgotten Syndrome’.Although the prevalence of KS has been estimated to be as high as 1 in 450 (Herlihy et al., in press.), between 50 and 70% of males are never diagnosed (Bojesen et al.,2003). Klinefelter et al., 1942 first described KS as a syndrome in males, characterized by tall stature with eunuchoidal body proportions, gynaecomastia, small testes,hypogonadism, azoospermia and increased FSH levels(Klinefelter et al., 1942). The cause of this syndrome was identified 17 years later as an additional X chromosome in males, resulting in a 47, XXY karyotype (Jacobs & Strong,1959). Since then, there have been many advances in research concerning the biomedical aspects of KS, in addition to the cognitive and neuropsychological features,providing a greater understanding of the variety of behavioural, learning and psychological difficulties that may be present (Bojesen & Gravholt, 2007).

Rick Frith2018-09-06T12:29:52-04:00Categories: 47,XXY (Klinefelter)|

Testosterone Deficiency

Article Title: Testosterone Deficiency

Author: E. Barry Gordon, MD

Date of Publication: 2006

Most people have heard of testosterone, but very few are aware of the diseases resulting from the hormone’s deficiency. This situation is not surprising. Testosterone is frequently in the news media either because of its energizing effect on our sexuality or, more commonly, because of its illegal overuse to enhance athletic performance. Because of this the hormone has taken on something of a sordid, sleazy, even illegal, aura.

The reason very few people are aware of the disease of testosterone deficiency is that no one talks about it. It’s been swept under the medical rug and kept there. Even most of the medical community know very little, if anything, about the scope and severity of this disease. Many don’t want to know about it. They are frightened by the myths and don’t want to be associated with the popular perceptions.

Rick Frith2022-03-10T09:44:15-05:00Categories: 47,XXY (Klinefelter)|

AAP: Guideline Calls for Pre-K ADHD Evaluation

Article Title: AAP: Guideline Calls for Pre-K ADHD Evaluation

Author: Charles Bankhead

Date of Publication: October 16, 2011

Primary care physicians should begin evaluating children for attention deficit hyperactivity disorder (ADHD) at age 4 and continue through age 18, according to a new clinical guideline from the American Academy of Pediatrics.

Read more
(You may need to setup a free MedPage Today account to view this article.)

Rick Frith2022-02-25T17:04:44-05:00Categories: All Variations|Tags: ADHD|

Tantrum Tamer: New Ways Parents Can Stop Bad Behavior

Title: Tantrum Tamer: New Ways Parents Can Stop Bad Behavior

Author: Shirley S. Wang

Date of Publication: November 8, 2011

Rick Frith2018-07-09T17:35:46-04:00Categories: All Variations|

Executive Function Skills and School

Article Title: Executive Function…What is this anyway?

Author: Chris A. Zeigler Dendy, M.S.

Date of Publication: 2011

This article is not specific to X and Y conditions but it does present useful information about executive skills and how challenges in this area can impact kids in school.

Excerpt:
“Clearly school is often very difficult for students with attention deficits. However, when executive function deficits are also present, the accompanying problems are often overwhelming to the student and family. Unfortunately, some parents and teachers have had little awareness or sympathy for the challenges presented by these combined deficits. Hopefully, teachers and parents now realize that attention deficit disorder is often a very complex condition….when deficits in executive function and related learning problems are present, students can try their very best and still not succeed in school.”

Rick Frith2018-07-14T14:08:56-04:00Categories: All Variations|

ADHD Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY

Article title: Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY

Authors: Nicole R. Tartaglia, MD, Natalie Ayari, BA, Christa Hutaff-Lee, PhD, Richard Boada, PhD

Date of Publication: May 2012

Please share this article with your healthcare providers and with other professionals (therapists, school support staff and administrators, etc.).

Rick Frith2022-02-25T17:06:05-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXYY|Tags: ADHD|

Bottled Water May Boost Kids’ Tooth Decay, Dentists Say

Children who have X and Y chromosome variations have more frequent dental problems. Those who have 47,XXY, in particular, often have a dental condition called taurodontism, which makes them more prone to tooth decay and other problems.

There is a possible relationship between bottled water, which typically does not contain added fluoride, and an epidemic of tooth decay in young children. Municipal tap water, on the other hand, is typically fluoridated and offers protection against tooth decay.

If your child drinks bottled water, and if you have no objections to fluoridated water, you may wish to consider shifting to tap water in a refillable water bottle. If you are concerned about the quality of your tap water, Consumer Reports recently published a comprehensive report offering a number of excellent choices for inexpensive, highly effective water filters – priced from $15, a cost that will be quickly offset by savings on bottled water, and you’ll be helping the environment in the process.

If you are concerned about bisphenol-A in some older plastic water bottles, there are numerous sources for inexpensive, BPA-free refillable water bottles. Here’s a link on Amazon for illustrations: amzn.to/HW7vBL

More Information:
CDC Information (revised)
Update courtesy of TimberCrest Dental Center
NY Times Article
Study: Oral Health Improving for Most Americans, But Tooth Decay Among Preschool Children on the Rise

Rick Frith2018-07-14T14:38:12-04:00Categories: All Variations|