International investigation of neurocognitive and behavioral phenotype in 47,XXY (Klinefelter syndrome): Predicting individual differences

This study lays additional features to the foundation for an algorithm linking external variables to outcome on various neurodevelopmental measures.
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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ConclusionThese guidelines provide recommendations and suggestions to care for patients with KS in various developmental stages ranging from childhood and adolescence to adulthood. This advice is based on recent research data and respective evaluations as well as validations performed by a group of experts.
Source: Andrology - Category: Urology & Nephrology Authors: Tags: Review Article Source Type: research
Authors: Rojas AP, Vo DV, Mwangi L, Rehman S, Peiris AN Abstract Klinefelter syndrome (47,XXY) has a prevalence of approximately 1 in 500 males. It is a condition characterized by an extra X chromosome and is an underdiagnosed clinical entity. Inactivation of genes enables their escape from regulatory mechanisms, which can result in such classic physical manifestations as hypogonadism, gynecomastia, infertility, and various hormonal and physical abnormalities. While the endocrine manifestations of 47,XXY are well-known, the oncologic manifestations have received less attention. An association between cancer and 47,...
Source: Hormones - Category: Endocrinology Tags: Hormones (Athens) Source Type: research
Background: Male breast cancer (MBC) accounts for less than 1% of all cancers in men. Several genetic disorders, such as Lynch, Cowden, Klinefelter and Li-Fraumeni syndrome contribute to increase the lifetime risk to develop breast cancer in males.
Source: European Journal of Cancer - Category: Cancer & Oncology Authors: Tags: POSTERS A: Local Regional Treatment – Surgery Source Type: research
The most common presentation of Klinefelter syndrome (KS) is infertility and features of hypogonadism. Currently no consensus exists on the risk of malignancy in this syndrome. Several case reports show an inc...
Source: International Journal of Pediatric Endocrinology - Category: Endocrinology Authors: Tags: Review Source Type: research
We present a hypothesis whereby a number of environmental, lifestyle and clinical factors conspire to induce oxidative DNA damage in the male germ line which then triggers the formation de novo mutations which can have a major impact on the health of the offspring including their subsequent fertility.
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Abstract Lujan-Fryns Syndrome (LFS) is defined as a set of symptoms including mild-moderate mental retardation, marfanoid appearance, hypotonia at birth, hypernasal speech, characteristic craniofacial appearance and normal testis size. The frequency of the syndrome is not known thus the information obtained is solely based on case reports. Hereby, we present a patient with LFS diagnosis. The 29-year old male patient had mental retardation, aggression, and persecutory delusions, characteristic craniofacial and marfanoid features. During his speech pronominal reversal was observed ('the hurt him, he is so upset' whe...
Source: Turkish Journal of Psychiatry - Category: Psychiatry Authors: Tags: Turk Psikiyatri Derg Source Type: research
Publication date: Available online 22 September 2020Source: Stem Cell ResearchAuthor(s): Maryam Alowaysia, Elisabetta Fiaccoa, Veronica Astro, Antonio Adamo
Source: Stem Cell Research - Category: Stem Cells Source Type: research
ConclusionThese guidelines provide recommendations and suggestions to care for patients with KS in various developmental stages ranging from childhood and adolescence to adulthood. This advice is based on recent research data and respective evaluations as well as validations performed by a group of experts.
Source: Andrology - Category: Urology & Nephrology Authors: Tags: REVIEW ARTICLE Source Type: research
ConclusionOf the 16 identified as under ‐expressed in 45,X cells and over‐expressed in 47,XXY cells, 14 are located in X chromosome and 2 in autosomal chromosome; 8 of these genes are involved in the regulation of gene expression: 5 genes are related to epigenetic mechanisms, 2 in regulation of splicing processes, and 1 in the protein synthesis process. Our results are limited by it being the product of a bioinformatic analysis from mRNA isolated from whole blood, this makes necessary further exploration of the relationships between these genes and Turner syndrome and Klinefelter syndrome in the future.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
In this study of combined cohorts of healthy participants, the largest normative ranges of LH, FSH, and the LH/FSH ratio to date were created. These reference ranges provide the opportunity for clinical as well as research use for all three markers. However, the previously rather undescribed LH/FSH ratio was not a distinct marker of sex after infancy nor a new marker of hypogonadism. Although there were significant differences between subgroups of DSD patients compared to healthy controls, the clinical significance of the LH/FSH ratio after infancy lacked. However, it can be speculated whether there are other areas of clin...
Source: Human Reproduction - Category: Reproduction Medicine Source Type: research
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