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AXYS - The Association for X&Y Chromosome Variations
Helpline: 1‑267‑338‑4262 | info@genetic.org

Yearly Archives: 2020

Executive function in XXY: Comparison of performance-based measures and rating scales

Article Title: Executive function in XXY: Comparison of performance-based measures and rating scales

Authors: Janusz, Harrison, C. Boada, Cordeiro, Howell, Tartaglia, and R. Boada

Date of Publication: June 2020

“Few studies have systematically assessed executive functioning (EF) skills in boys with XXY, and these are limited by small samples and restricted EF assessment. This study used a broader battery of performance-based measures as well as parent-rating scales of EF in 77 boys and adolescents with XXY (mean age = 12.5 years), recruited from a clinical trial and an outpatient clinic. Exploratory factor analyses were used to create EF domains from performance-based measures, and similar domains were measured using the Behavior Rating Inventory of Executive Function and Conners Parent-Rating Scales. The boys with XXY showed a distinct EF profile, with the greatest deficit in attention and more moderate deficits in working memory, switching, and planning/ problem solving. Parent ratings showed similar challenges, as well as impaired inhibition. Independent sample t-tests showed no difference on performance measures between boys diagnosed or not diagnosed with attention-deficit/hyperactivity disorder (ADHD), although parents of boys diagnosed with ADHD reported more difficulties. There were no differences on performance-based tests between those diagnosed pre- and postnatally, although parents of postnatally diagnosed boys reported more metacognitive problems. Language deficits, cognition, and socio-economic status did not account for EF deficits.”

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2022-02-25T17:07:32-05:00Categories: 47,XXY (Klinefelter)|Tags: , |

High prevalence of cardiometabolic risk features in adolescents with 47,XXY/Klinefelter syndrome

Article Title: High prevalence of cardiometabolic risk features in adolescents with 47,XXY/Klinefelter syndrome

Authors: Davis, DeKlotz, Nadeau, Kelsey, Zeitler, and Tartaglia

Date of Publication: June 2020

“Klinefelter syndrome (KS) occurs in 1:600 males and is associated with high morbidity and mortality due to diabetes and cardiovascular disease. Up to 50% of men with KS have metabolic syndrome, a cluster of features conferring increased risk for diabetes and cardiovascular disease. These cardiometabolic (CM) risk features have not been studied in adolescents with KS. The objective of this cohort study was to compare CM risk features in adolescents with KS to controls matched for sex, age, and BMI z score.”

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2020-11-05T12:49:50-05:00Categories: 47,XXY (Klinefelter)|

Diminished Ovarian Reserve in Girls and Adolescents with Trisomy X Syndrome

Article Title: Diminished Ovarian Reserve in Girls and Adolescents with Trisomy X Syndrome

Authors: Davis, Soares, Howell, Cree-Green, Buyers, Johnson, and Tartaglia

Date of Publication: June 2020

“An extra X chromosome occurs in ~ 1 in 1000 females, resulting in a karyotype 47,XXX also known as trisomy X syndrome (TXS). Women with TXS appear to be at increased risk for premature ovarian insufficiency; however, very little research on this relationship has been conducted. The objective of this case-control study is to compare ovarian function, as measured by anti-mullerian hormone (AMH) levels, between girls with TXS and controls. Serum AMH concentrations were compared between 15 females with TXS (median age 13.4 years) and 26 controls (median age 15.1 years). Females with TXS had significantly lower serum AMH compared to controls (0.7 ng/mL (IQR 0.2–1.7) vs 2.7 (IQR 1.3–4.8), p < 0.001). Additionally, girls with TXS were much more likely to have an AMH below the 2.5th percentile for age with 67% of them meeting these criteria (OR 11, 95% CI 2.3–42). Lower AMH concentrations in females with TXS may represent an increased risk for primary ovarian insufficiency in these patients and potentially a narrow window of opportunity to pursue fertility preservation options. Additional research is needed to understand the natural history of low AMH concentrations and future risk of premature ovarian insufficiency in girls with TXS.”

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2021-01-15T14:37:59-05:00Categories: 47,XXX (trisomy x)|

AXYS is Committed to Pursuing Equity

Until now, AXYS has not explicitly stated our stance on the Black Lives Matter movement. AXYS acknowledges the disparity in diagnosis, treatment, and support of people of color. Instead of just a display of solidarity, we wanted to share with you our goals and future actions to work towards equity for people of color within the AXYS community.

Recently, AXYS held our first Families of Color call. The fundamental message, as said by Dalene Basden, is that people and families of color need AXYS to say “we are listening, and we are here to support you.”

After thought and discussion, and with direct input from the participants on the Families of Color call, AXYS has the following goals:

  • To support people of color in receiving equitable healthcare, education, and social support
  • To integrate information on the impact of systemic racism in the healthcare system into our CME courses
  • To better connect people with similar ethnic and cultural backgrounds for support within our community
  • To increase accessibility to research opportunities for people and families of color
  • To increase diversity of location for future in-person meetings

To achieve these goals, we will be taking the following steps:

  • Shifting the focus of our next ACRC meetings to discuss how each of our clinics can support equity
  • Modifying our “Stay Connected” form to include requests for demographic information including race and gender expression
  • Encouraging researchers to report information based on race so that families can take more specific information to their medical providers
  • Going through our professional directory to identify providers of color
  • Creating research-based additions to our CME courses
  • Continuing our conversations with people and families of color to reflect on AXYS’s past, present, and future actions

As individuals, as a community, and as a country, there is so much work that needs to be done to bridge the gap between the ideals of our society, and the realities for people of color. Another statement during the phone call that resonated with me was: “I have the power to make things happen.” I know I can count on the AXYS community to not only know that we can do better, but to take action.

-Erin Frith, AXYS Chair

2020-10-13T12:27:53-04:00Categories: All Variations|

Counseling in Pediatric Populations at Risk for Infertility and/or Sexual Function Concerns

Article Title: Counseling in Pediatric Populations at Risk for Infertility and/or Sexual Function Concerns

Authors: Nahata, Quinn, and Tishelman

Date of Publication: July 30, 2018

“Health care providers and parents report challenges in knowing how and when to discuss these issues. In this context, the goal of this clinical report is to review evidence and considerations for providers related to information sharing about impaired fertility and sexual function in pediatric patients attributable to congenital and acquired conditions or treatments.”

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2020-10-09T12:25:06-04:00Categories: 47,XXY (Klinefelter), 48,XXXY, 48,XXYY, Other Variations|

European Academy of Andrology Guidelines on Klinefelter Syndrome

Article Title: European Academy of Andrology (EAA) Guidelines on Klinefelter Syndrome

Authors: Zitzmann, Aksglaede, Corona, Isidori, Juul, T’Sjoen, Kliesch, D’Hauwers, Toppari, Słowikowska-Hilczer, Tüttelmann, and Ferlin

Date of Publication: September 22, 2020

“These guidelines provide recommendations and suggestions to care for patients with KS in various developmental stages ranging from childhood and adolescence to adulthood. This advice is based on recent research data and respective evaluations as well as validations performed by a group of experts.”

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2020-09-29T11:08:05-04:00Categories: 47,XXY (Klinefelter)|

Rare sex chromosome variation 48,XXYY: An integrative review

Article Title: Rare sex chromosome variation 48,XXYY: An integrative review

Authors: Blumling, Martyn, Talboy, and Close

Date of Publication: April 9, 2020

“48,XXYY presents with a wide spectrum of physical, psychological, and neurocognitive symptoms, and frequently requires complex interdisciplinary care. In order to better understand this disorder and to appropriately treat the individuals affected by it, future research should focus on experimental studies and research that utilizes a variety of methods, including participant interviews and patient-report surveys.”

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2020-09-10T14:38:16-04:00Categories: 48,XXYY|

Marked Increase in Incident Gynecomastia: A 20-year National Registry Study 1998-2017

Article Title: Marked Increase in Incident Gynecomastia: A 20-year National Registry Study 1998-2017

Authors: Koch, Bräuner, Busch, Hickey, and Juul

Date of Publication: July 7, 2020

“The incidence of gynecomastia has dramatically increased over the last 20 years implying that the endogenous or exogenous sex steroid environment has changed, which is associated with other adverse health consequences in men such as an increased risk of prostate cancer, metabolic syndrome, diabetes type 2 or cardiovascular disorders.”

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2020-08-07T15:40:37-04:00Categories: 47,XXY (Klinefelter)|Tags: |

Fertility management of Klinefelter syndrome

Article Title: Fertility management of Klinefelter syndrome

Authors: Fainberg, Hayden and Schlegel

Date of Publication: October 7, 2019

“Individuals with KS have a relatively good prognosis for sperm recovery compared to other men with idiopathic NOA. Surgical success is heavily dependent upon surgical technique and the experience of the andrology/embryology team tasked with the identification and use of testicular sperm.”

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2020-07-28T13:00:03-04:00Categories: 47,XXY (Klinefelter)|Tags: |

The epidemiology of sex chromosome abnormalities

Article Title: The epidemiology of sex chromosome abnormalities

Authors: Berglund, Stochholm, and Gravholt

Date of Publication: May 11, 2020

“Sex chromosome abnormalities (SCAs) are characterized by gain or loss of entire sex chromosomes or parts of sex chromosomes with the best-known syndromes being Turner syndrome, Klinefelter syndrome, 47,XXX syndrome, and 47,XYY syndrome. Since these syndromes were first described more than 60 years ago, several papers have reported on diseases and health related problems, neurocognitive deficits, and social challenges among affected persons. However, the generally increased comorbidity burden with specific comorbidity patterns within and across syndromes as well as early death of affected persons was not recognized until the last couple of decades, where population-based epidemiological studies were undertaken. Moreover, these epidemiological studies provided knowledge of an association between SCAs and a negatively reduced socioeconomic status in terms of education, income, retirement, cohabitation with a partner and parenthood. This review is on the aspects of epidemiology in Turner, Klinefelter, 47,XXX and 47,XYY syndrome.”

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2020-06-16T17:22:47-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|
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