Early Social Behavior in Young Children with Sex Chromosome Trisomies (Trisomy X, XXY, XYY)

Article Title: Early Social Behavior in Young Children with Sex Chromosome Trisomies (XXX, XXY, XYY): Profiles of Observed Social Interactions and Social Impairments Associated with Autism Spectrum Disorder (ASD)

Authors: Bouw, Swaab, Tartaglia, Cordeiro, and van Rijn

Date of Publication: March 23, 2022

“Individuals with Sex Chromosome Trisomies (SCT; XXX, XXY, XYY) have an increased vulnerability for developing challenges in social adaptive functioning. The present study investigates social interaction behavior in the context of varying social load, and Autism Spectrum Disorder (ASD) symptomatology in young children aged 1–7.5 years old, with SCT (N = 105) and control children (N = 101). Children with SCT show less interaction behaviors and more social withdrawal, as compared to their control peers, which were most evident in the high social load condition. Second, social impairments related to ASD are more prevalent, as compared to controls (27.1% at clinical level). These findings stress the importance of early monitoring and (preventive) support of early social development in young children with SCT.”

Rick Frith2022-05-16T14:10:26-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|Tags: Autism Spectrum Disorder, Social Behavior|

Early developmental impact of sex chromosome trisomies on ADHD symptomology in young children

Article Title: Early developmental impact of sex chromosome trisomies on attention deficit-hyperactivity disorder symptomology in young children

Authors: Kuiper, Swaab, Tartaglia, and van Rijn

Date of Publication: June 18, 2021

“Individuals with sex chromosome trisomies ([SCT], XXX, XXY, and XYY)) are at increased risk for neurodevelopmental problems, given that a significant portion of the sex chromosome genes impact brain functioning. An elevated risk for psychopathology has also been described, including attention deficit-hyperactivity disorder (ADHD). The present study aimed at identifying early markers of ADHD, providing the first investigation of ADHD symptomology in very young children with SCT.”

Rick Frith2022-02-25T13:15:20-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|Tags: ADHD|

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)|

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|

XXYY Project Clinic Visit Stipend

The XXYY Project is thrilled to offer a stipend of up to $750 to help up to 10 families per calendar year with the travel-related costs of their visit to an ACRC (AXYS Clinical and Research Consortium) clinic. This can only be used to offset travel-related expenses associated with a visit to a clinic for an individual diagnosed with 48,XXYY.

We ask that you:
1. Be registered with the XXYY Project. Visit https://genetic.org/xxyy-project-family-information-forms/ if you need to register.
2. Complete this application form and submit prior to your clinic visit. You will be notified that we have received your application.
3. After your visit, you will need to complete the reimbursement form for travel-related receipts. You will also need to provide a note from the clinic confirming your visit so our accountants are assured that this money was indeed used by someone with XXYY to visit an ACRC clinic. The total of the receipts submitted must be greater than or equal to $750.

Clinic Visit Stipend Application Form

XXYY Project Clinic Visit Stipend

The XXYY Project is thrilled to offer a stipend of up to $750 to help up to 10 families per calendar year with the travel-related costs of their visit to an ACRC (AXYS Clinical and Research Consortium) clinic. This can only be used to offset travel-related expenses associated with a visit to a clinic for an individual diagnosed with 48,XXYY.

We ask that you:
1. Be registered with the XXYY Project. Visit https://genetic.org/xxyy-project-family-information-forms/ if you need to register.
2. Complete this application form and submit prior to your clinic visit. You will be notified that we have received your application.
3. After your visit, you will need to complete the reimbursement form for travel-related receipts. You will also need to provide a note from the clinic confirming your visit so our accountants are assured that this money was indeed used by someone with XXYY to visit an ACRC clinic. The total of the receipts submitted must be greater than or equal to $750.

Clinic Visit Stipend Application Form

Rick Frith2026-03-27T15:41:51-04:00

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|

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.”

Rick Frith2021-02-23T13:49:23-05:00Categories: 47,XXX (trisomy x)|

CME

Continuing Medical Education

XXY – Klinefelter Syndrome: Lessons for Healthcare Providers

These narrated PowerPoint lessons were used in a CME course. That course expired in 2023. We offer these as an excellent background for healthcare providers who serve adults with XXY.

Course Introduction

Lesson 1 | History, Prevalence, Phenotype

Lesson 2 | Diagnosis

Lesson 3 | Physical and Mental Comorbidities

Lesson 4 | Multidisciplinary Health Management

Lesson 5 | Fertility Treatment

Image credit: Kristen Gee, Noun Project

Rick Frith2023-08-31T14:40:19-04:00

From mini‐puberty to pre‐puberty: early impairment of the hypothalamus-pituitary-gonadal axis (KS)

Article Title: From mini‐puberty to pre‐puberty: early impairment of the hypothalamus-pituitary-gonadal axis with normal testicular function in children with non-mosaic Klinefelter syndrome

Authors: Spaziani, Granato, Liberati, Rossi, Tahani, Pozza, Gianfrilli, Papi, Anzuini, Lenzi, Tarani, and Radicioni

Date of Publication: May 6, 2020

“Purpose Klinefelter syndrome (KS) is a genetic disorder caused by the presence of an extra X chromosome in males. The aim of this study was to evaluate the hypothalamic–pituitary–gonadal (HPG) axis and the clinical profile of KS boys from mini-puberty to early childhood…Conclusions No hormonal signs of tubular or interstitial damage were found in KS infants. The presence of higher levels of gonadotropins, INHB and testosterone during mini-puberty and pre-puberty may be interpreted as an alteration of the HPG axis in KS infants.”

Rick Frith2021-01-14T11:18:32-05:00Categories: 47,XXY (Klinefelter)|

Strategies to improve early diagnosis of Klinefelter syndrome

Article Title: Strategies to improve early diagnosis of Klinefelter syndrome

Authors: Alberto Ferlin

Date of Publication: October 2020

“Klinefelter syndrome is the most frequent chromosome disorder in men, but it is largely undiagnosed or receives a late diagnosis in adulthood. This condition is characterized by an extra X-chromosome: approximately 80%-90% of patients with Klinefelter syndrome have a 47,XXY karyotype, 10%-20% mosaicisms of two different genetic lines such as 47,XXY/46,XY, isochromosome X, and higher number of X chromosomes. Although our knowledge on this syndrome substantially improved in last years, the diagnostic rate is still low. It has been estimated that only 25% to 40% of subjects with 47,XXY Klinefelter syndrome are ever diagnosed. A prenatal diagnosis is made in 15–20% of these cases, 10% is diagnosed before puberty, 15% at puberty, and the remaining 50–60% of cases are diagnosed during adulthood, typically in the course of a fertility workup, with some cases diagnosed even after the age of 50 or 60 years. Variants with higher number of X chromosomes (48,XXXY and 49,XXXXY) have more severe phenotype and distinct clinical features, which leads to higher diagnostic rate than 47,XXY. This manuscript refers to the most common form 47,XXY syndrome and strategies to improve early and timely diagnosis.”

Rick Frith2020-12-23T15:26:48-05:00Categories: 47,XXY (Klinefelter)|

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Early developmental impact of sex chromosome trisomies on ADHD symptomology in young children

Onset and progression of puberty in Klinefelter syndrome

The Need for Greater Awareness of Sex Chromosome Variations

XXYY Project Clinic Visit Stipend

XXYY Project Clinic Visit Stipend

Clinic Visit Stipend Application Form

XXYY Project Clinic Visit Stipend

Clinic Visit Stipend Application Form

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

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

CME

Continuing Medical Education

XXY – Klinefelter Syndrome: Lessons for Healthcare Providers

Course Introduction

Lesson 1 | History, Prevalence, Phenotype

Lesson 2 | Diagnosis

Lesson 3 | Physical and Mental Comorbidities

Lesson 4 | Multidisciplinary Health Management

Lesson 5 | Fertility Treatment

Image credit: Kristen Gee, Noun Project

From mini‐puberty to pre‐puberty: early impairment of the hypothalamus-pituitary-gonadal axis (KS)

Strategies to improve early diagnosis of Klinefelter syndrome