Library - Page 5 of 33 - The Association for X and Y Chromosome Variations

Exploring the Strengths of Students with X&Y Variations

“Children with sex chromosome aneuploidies (SCAs) are often characterized in the literature by limitations and pathologies related to the genetic diagnosis. This study aimed to broaden the SCA phenotype by describing parent reported character and academic strengths. Parents of children with SCAs ages 3-21…responded to an electronic survey asking them to describe their child’s strengths in academic settings. Responses were coded for strengths-based content and analyzed using a mixed-methods content analysis approach. We identified overarching qualitative themes of Social Strengths and Assets for Learning. Quantitative results showed a pattern of overlapping strengths among the trisomy SCAs (perseverance and love of learning), with some significant differences between children with supernumerary X chromosomes (strengths in kindness) and those with an additional Y chromosome (strengths in curiosity, humor, and teamwork). Suggestions for future strengths-based research and educational practices to address academic. developmental and psychosocial risks are explored.”

Rick Frith2022-05-06T16:26:16-04:00Categories: Featured Research Articles|Tags: Education|

Onset and progression of puberty in Klinefelter syndrome

Article Title: Onset and progression of puberty in Klinefelter syndrome

Authors: Tanner, Miettinen, Hero, Toppari, and Raivio

Date of Publication: September 14, 2021

“Klinefelter syndrome (KS) (47,XXY and variants, KS) is the most common sex chromosome disorder in humans. However, little is known about the onset and progression of puberty in patients with KS. In this study, we describe the onset and progression of puberty in a large series of boys with KS in a single tertiary centre.”

Rick Frith2022-02-10T12:43:43-05:00Categories: 47,XXY (Klinefelter)|

Recent advancement in the treatment of boys and adolescents with hypogonadism

Article Title: Recent advancement in the treatment of boys and adolescents with hypogonadism

Authors: Rey

Date of Publication: November 2021

“Testosterone therapy has been the standard, although off-label, in the vast majority of cases. However, more recently alternative therapies have been tested: aromatase inhibitors to induce the hypothalamic-pituitary-testicular axis in boys with constitutional delay of puberty and replacement with GnRH or gonadotrophins in those with central hypogonadism. Furthermore, follicle-stimulating hormone (FSH) priming prior to hCG or luteinizing hormone (LH) treatment seems effective to induce an enhanced testicular enlargement. Although the rationale for gonadotrophin or GnRH treatment is based on mimicking normal physiology, long-term results are still needed to assess their impact on adult fertility.”

Rick Frith2022-01-25T15:43:11-05:00Categories: 47,XXY (Klinefelter)|Tags: Fertility|

Model for Fertility Preservation in Klinefelter Syndrome Patients

Article Title: In Vitro Propagation of XXY Undifferentiated Mouse Spermatogonia: Model for Fertility Preservation in Klinefelter Syndrome Patients

Authors: Galdon, Deebel, Zarandi, Pettenati, Kogan, Wang, Swerdloff, Atala, Lue, and Sadri-Ardekani

Date of Publication: December 24, 2021

“These data provide the first evidence that an extra sex chromosome was lost during innate SSC culture, a crucial finding in treating KS patients for preserving and propagating SSCs for future sperm production, either in vitro or in vivo. This in vitro propagation system can be translated to clinical fertility preservation for KS patients.”

Rick Frith2022-01-13T14:55:57-05:00Categories: 47,XXY (Klinefelter)|Tags: Fertility|

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|