About Rick Frith

Communications Manager for AXYS.

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

2021-07-13T17:14:14-04:00Categories: Other Variations, XXXY|Tags: , |

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.”

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2021-06-08T13:35:43-04:00Categories: 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.”

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2021-06-08T12:54:03-04:00Categories: 47,XXY (Klinefelter)|Tags: |

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].”

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2021-05-18T14:38:36-04:00Categories: 47,XXY (Klinefelter)|Tags: |

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.”

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2021-05-06T09:32:58-04:00Categories: 47,XXY (Klinefelter)|

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.”

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2021-03-03T15:01:38-05:00Categories: 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.”

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2021-03-03T14:50:48-05:00Categories: 47,XXX (trisomy x)|

What microRNAs could tell us about the human X chromosome

Article Title: What microRNAs could tell us about the human X chromosome

Authors: Di Palo, Siniscalchi, Salerno, Russo, Gravholt and Potenza

Date of Publication: April 30, 2020

“MicroRNAs (miRNA) are small-non coding RNAs endowed with great regulatory power, thus playing key roles not only in almost all physiological pathways, but also in the pathogenesis of several diseases. Surprisingly, genomic distribution analysis revealed the highest density of miRNA sequences on the X chromosome; this evolutionary conserved mammalian feature equips females with a larger miRNA machinery than males. However, miRNAs contribution to some X-related conditions, properties or functions is still poorly explored. With the aim to support and focus research in the field, this review analyzes the literature and databases about X-linked miRNAs, trying to understand how miRNAs could contribute to emerging gender-biased functions and pathological mechanisms, such as immunity and cancer. A fine map of miRNA sequences on the X chromosome is reported, and their known functions are discussed; in addition, bioinformatics functional analyses of the whole X-linked miRNA targetome (predicted and validated) were performed. The emerging scenario points to different gaps in the knowledge that should be filled with future experimental investigations, also in terms of possible implications and pathological perspectives for X chromosome aneuploidy syndromes, such as Turner and Klinefelter syndromes.”

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Social functioning and emotion recognition in adults with triple X syndrome (TXS)

Article Title: Social functioning and emotion recognition in adults with triple X syndrome

Authors: Otter, Crins, Campforts, Stumpel, Van Amelsvoort, and Vingerhoets

Publication Date: February 15, 2021

“Our findings indicate that adults with TXS have a higher prevalence of impaired social functioning and emotion recognition. These results highlight the relevance of sex chromosome aneuploidy as a potential model for studying disorders characterised by social impairments such as autism spectrum disorder, particularly among women.”

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2021-02-23T13:49:23-05:00Categories: 47,XXX (trisomy x)|

Social Management Training in Males With 47,XXY (Klinefelter Syndrome)

Article Title: Social Management Training in Males With 47,XXY (Klinefelter Syndrome): A Pilot Study of a Neurocognitive-Behavioral Treatment Targeting Social, Emotional, and Behavioral Problems

Authors: Martin, Van Rijn, Bierman, and Swaab

Date of Publication: January 1, 2021

“Klinefelter syndrome (47,XXY) is associated with problems in social interaction and behavioral adaptation. Sixteen adolescents and adult men with 47,XXY enrolled in a pilot study evaluating the effectiveness of Social Management Training (SMT), a novel neurocognitive-behavioral treatment program targeted at improving social, emotional, and behavioral functioning. Participants reported improved emotional stability from pre- to post-test (5 months). Informants reported reductions in internalizing and externalizing symptoms, including improvement in self-regulation. Although informants did not report changes in autism-like symptoms, increased awareness of social challenges was found. SMT may improve emotional stability, self-regulation, and self-reflection in people males with Klinefelter syndrome. This potentially efficacious treatment approach may prove to be a promising psychosocial therapeutic intervention for this population.”

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2021-01-27T16:08:22-05:00Categories: 47,XXY (Klinefelter)|
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