Other Variations

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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,XXYY, Other Variations, XXXY|

Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies

Article Title: Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies

Authors: Green, Flash, and Reiss

Date of Publication: January 2019

“The study of individuals with sex chromosome aneuploidies provides a promising framework for studying sexual dimorphism in neurodevelopmental and psychiatric disorders. Here we will review and contrast four syndromes caused by variation in the number of sex chromosomes: Turner syndrome, Klinefelter syndrome, XYY syndrome, and XXX syndrome. Overall we describe an increased rate of attention deficit hyperactivity disorder and autism spectrum disorder, along with the increased rates of major depressive disorder and anxiety disorders in one or more of these conditions. In addition to contributing unique insights about sexual dimorphism in neuropsychiatric disorders, awareness of the increased risk of neurodevelopmental and psychiatric disorders in sex chromosome aneuploidies can inform appropriate management of these common genetic disorders.”

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Changes in the cohort composition of TS, severe non-diagnosis of KS, 47,XXX and 47,XYY syndrome

Article Title: Changes in the cohort composition of Turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study

Authors: Claus H. Gravholt, MD, PhD et al

Date of Publication: January 14, 2019

“The prevalence of TS is higher than previously identified, and the karyotypic composition of the TS population is changing. Non-diagnosis is extensive among KS, Triple X and Double Y, whereas all TS seem to become diagnosed. The diagnostic activity has increased among TS with other karyotypes than 45,X as well as among KS and Double Y.”

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Klinefelter Syndrome and Other Sex Chromosomal Aneuploidies

Article Title: Klinefelter syndrome and other sex chromosomal aneuploidies

Author: Jeannie Visootsak and John M. Graham Jr.

Date of Publication: October 24, 2006

The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births. The incidence of 49,XXXXY is 1 per 85,000 to 100,000 male births. In addition, 46,XX males also exist and it is caused by translocation of Y material including sex determining region (SRY) to the X chromosome during paternal meiosis. Formal cytogenetic analysis is necessary to make a definite diagnosis, and more obvious differences in physical features tend to be associated with increasing numbers of sex chromosomes. If the diagnosis is not made prenatally, 47,XXY males may present with a variety of subtle clinical signs that are age-related. In infancy, males with 47,XXY may have chromosomal evaluations done for hypospadias, small phallus or cryptorchidism, developmental delay. The school-aged child may present with language delay, learning disabilities, or behavioral problems. The older child or adolescent may be discovered during an endocrine evaluation for delayed or incomplete pubertal development with eunuchoid body habitus, gynecomastia, and small testes. Adults are often evaluated for infertility or breast malignancy. Androgen replacement therapy should begin at puberty, around age 12 years, in increasing dosage sufficient to maintain age appropriate serum concentrations of testosterone, estradiol, follicle stimulating hormone (FSH), and luteinizing hormone (LH). The effects on physical and cognitive development increase with the number of extra Xs, and each extra X is associated with an intelligence quotient (IQ) decrease of approximately 15–16 points, with language most affected, particularly expressive language skills.

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2018-09-06T12:19:54-04:00Categories: 47,XXY (Klinefelter), 48,XXYY, Other Variations|

Clinical research: Extra X impairs awareness of others’ minds

Article Title: Clinical research: Extra X impairs awareness of others’ minds

Author: Kate Yandell

Date of Publication: June 13, 2014

“Girls and boys born with an extra X chromosome both tend to have difficulties understanding the minds of others, but for different reasons than children with autism do, according to a study published 22 March in Genes, Brain and Behavior” (Sophie van Rijn et al).

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Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome

Article Title: Effects of short‐course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome

Authors: Carole A. Samango‐Sprouse, Andrea L Gropman, Teresa Sadeghin, Madison Kingery, Margaret Lutz‐Armstrong, Alan D. Rogol

Date of Publication: March 1, 2011

“The aim of this investigation was to ascertain whether an early course of androgen treatment (three injections testosterone enanthate, 25 mg) could have a positive impact on any domains of neurodevelopmental function in boys with 49,XXXXY.

Our findings revealed improved function in several areas of development which had been severely delayed in boys with 49,XXXXY. Continued research is underway to expand our understanding of the relationship of androgen, brain function and behavioural outcome in boys with 49,XXXXY.”

2018-08-16T12:45:13-04:00Categories: Other Variations|Tags: |

48,XXYY, 48,XXXY and 49,XXXXY Syndromes: Not Just Variants of Klinefelter Syndrome

Article Title: 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome

Authors: Tartaglia, Ayari, Howell, D’Epagnier, Zeitler

Date of Publication: April 9, 2011

Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes are associated with additional physical findings, congenital malformations, medical problems and psychological features.”

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2018-08-17T16:45:49-04:00Categories: 48,XXYY, Other Variations|Tags: |
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