2021 - The Association for X and Y Chromosome Variations

Congenital heart defects associated with aneuploidy syndromes

Article Title: Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations

Authors: Lin, Santoro, High, Goldenberg, and Gutmark-Little

Date of Publication: November 7, 2019

“The frequent occurrence of congenital heart defects (CHDs) in chromosome abnormality syndromes is well-known, and among aneuploidy syndromes, distinctive patterns have been delineated. We update the type and frequency of CHDs in the aneuploidy syndromes involving trisomy 13, 18, 21, and 22, and in several sex chromosome abnormalities (Turner syndrome, trisomy X, Klinefelter syndrome, 47,XYY, and 48,XXYY).We also discuss the impact of noninvasive prenatal screening (mainly, cell-free DNA analysis), critical CHD screening, and the growth of parental advocacy on their surgical management and natural history. We encourage clinicians to view the cardiac diagnosis as a ‘phenotype’ which supplements the external dysmorphology examination. When detected prenatally, severe CHDs may influence decision-making, and postnatally, they are often the major determinants of survival. This review should be useful to geneticists, cardiologists, neonatologists, perinatal specialists, other pediatric specialists, and general pediatricians. As patients survive (and thrive) into adulthood, internists and related adult specialists will also need to be informed about their natural history and management.”

Rick Frith2021-09-17T19:58:01-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXYY, Other Variations|

The Need for Greater Awareness of Sex Chromosome Variations

Article Title: The Need for Greater Awareness of Sex Chromosome Variations

Author: Erin Torres, MSN, PMHNP-BC, RN-BC

Date of Publication: September 2021

From the article’s abstract: “Health care providers remain ill prepared to recognize these conditions and support patients and their families.”

Rick Frith2021-09-02T11:12:57-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXXY, 48,XXYY, All Variations, Other Variations|

The Remains Of A Warrior Found In Finland May Have Had Klinefelter Syndrome: NPR

“Analysis of ancient DNA found in Finland has unveiled a surprise a century later – the remains of an early medieval warrior thought to be female may have been nonbinary…In their findings, the researchers noted that the remains were “badly damaged” and that they only had a small sample to test. But through the use of modeling, they said they “found overwhelming evidence that the genetic data of the Suontaka individual most closely resemble an XXY karyotype.”

Read the full article

“1,000-Year-Old Remains May Be Of A Highly Respected Nonbinary Warrior, Study Finds.” NPR. 9 August 2021. Accessed 11 August 2021.

Rick Frith2021-08-11T14:31:27-04:00Categories: 47,XXY (Klinefelter)|

The Story of Rapha, a Boy with 48,XXXY/49,XXXXY

RAPHA from Josh Rowe on Vimeo.

Rick Frith2022-10-19T12:59:56-04:00Categories: 48,XXXY, Mosaicism, Other Variations|Tags: XXXXY|

Cortical gray matter structure in boys with Klinefelter syndrome

Article title: Cortical gray matter structure in boys with Klinefelter syndrome

Author: Foland-Ross, Gil, Shrestha, Chromik, Hong, and Reiss

Date of Publication: May 4, 2021

“…[W]e conducted a rigorous analysis of KS-associated alterations in cortical gray matter structure using a surface-based analysis of cortical volume, thickness and surface area. To control for the effects of puberty and testosterone replacement therapy, we focused on pre- or early-pubertal males who had not yet initiated hormone supplementation. We hypothesized that males with KS would exhibit reduced cortical gray matter in the insula, temporal and frontal cortices relative to TD males, as well as increased cortical gray matter in the parietal and sensorimotor regions. Additionally, we explored whether KS-associated alterations in cortical gray matter were correlated with differences in cognitive and behavioral symptoms associated with this condition.”

Rick Frith2021-06-08T13:35:43-04:00Categories: 47,XXY (Klinefelter)|

A clinical algorithm for management of fertility in adolescents with Klinefelter syndrome

Article title: A clinical algorithm for management of fertility in adolescents with the Klinefelter syndrome

Author: Masterson III, Nassaub, and Ramasamya

Date of Publication: May 2020

“In this review, we will discuss contemporary management of adolescents with Klinefelter’s syndrome, with a specific focus on fertility preservation and management of hypogonadism. As urologists often see these children after evaluation by an endocrinologist, we simplify our treatment strategy by creating case scenarios and present a treatment algorithm.”

Rick Frith2021-06-08T12:54:03-04:00Categories: 47,XXY (Klinefelter)|Tags: Fertility|

Male infertility due to testicular disorders

Article title: Male infertility due to testicular disorders

Author: Sharma, Minhas, Dhillo, and Jayasena

Date of Publication: December 9, 2020

“Male infertility due to testicular failure has traditionally been viewed as unmodifiable. In the absence of effective pharmacological therapies, delivery of lifestyle advice is a potentially important treatment option. Future research efforts are needed to determine unidentified factors causative in ‘idiopathic’ male infertility and long-term follow-up studies of babies conceived through ART [assisted reproductive techniques].”

Rick Frith2021-05-18T14:38:36-04:00Categories: 47,XXY (Klinefelter)|Tags: Fertility|

Incidence of gynaecomastia in Klinefelter syndrome adolescents and outcome of testosterone treatment

Article title: Incidence of gynaecomastia in Klinefelter syndrome adolescents and outcome of testosterone treatment

Author: Butler

Date of Publication: April 2021

“The incidence of gynaecomastia in KS boys (overall 35.6%) is not increased over typically developing boys. Commencing testosterone when gynaecomastia develops with physiological dose escalation and full adherence can result in the resolution of the gynaecomastia.”

Rick Frith2022-02-16T12:47:54-05:00Categories: 47,XXY (Klinefelter)|Tags: Testosterone treatment|

Epigenetics and genomics in Klinefelter syndrome

Article Title: Epigenetics and genomics in Klinefelter syndrome

Authors: Skakkebæk, Viuff, Nielsen, and Gravholt

Date of Publication: June 2, 2020

“Since the first description of Klinefelter syndrome (KS) was published in 1942 in The Journal of Clinical Endocrinology, large inter‐individual variability in the phenotypic presentation has been demonstrated. However, our understanding of the global impact of the additional X chromosome on the genome remains an enigma. Evidence from the existing literature of KS indicates that not just one single genetic mechanism can explain the phenotype and the variable expressivity, but several mechanisms may be at play concurrently. In this review, we describe different genetic mechanisms and recent advances in the understanding of the genome, epigenome, and transcriptome of KS and the link to the phenotype and clinical heterogeneity. Future studies are needed to unite clinical data, genomic data, and basic research attempting to understand the genetics behind KS. Unraveling the genetics of KS will be of clinical relevance as it may enable the use of polygenic risk scores to predict future disease susceptibility and enable clinical risk stratification of KS patients in the future.”

Rick Frith2021-03-03T15:01:38-05:00Categories: 47,XXY (Klinefelter)|

Epigenetic and transcriptomic consequences of excess X-chromosome material in 47,XXX syndrome

Article Title: Epigenetic and transcriptomic consequences of excess X-chromosome material in 47,XXX syndrome—A comparison with Turner syndrome and 46,XX females

Authors: Nielsen, Trolle, Vang, Hornshøj, Skakkebaek, Hedegaard, Nordentoft, Pedersen, and Gravholt

Date of Publication: June 3, 2020

“In conclusion, our results suggest an impact of the supernumerary X chromosome in 47,XXX syndrome on the methylation status of selected genes despite an overall comparable expression profile.”

Rick Frith2021-03-03T14:50:48-05:00Categories: 47,XXX (trisomy x)|