Eight case reports on sex‐hormone profiles in sexually mature male Down syndrome

Suzuki, Kuri; Nakajima, Koichi; Kamimura, Shinji; Takasugi, K.; Suzuki, Yasuyuki; Sekine, Hideaki; Ishii, Nobuhisa

doi:10.1111/j.1442-2042.2010.02621.x

Cited by 6 publications

(4 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Otherwise, key genes have been emerged through our analysis related to the formation of the atherosclerosis plaque affected in DS, i.e. upregulation of ANXA2 (Seidah et al, 2012), although other factors like sex hormones (El Khoudary et al, 2012; Mendelsohn and Karas, 2005; Suzuki et al, 2010) can also be related to this feature.…”

Section: Discussionmentioning

confidence: 98%

An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21

2013

View full text Add to dashboard Cite

SummaryAlthough approximately 50% of Down Syndrome (DS) patients have heart abnormalities, they exhibit an overprotection against cardiac abnormalities related with the connective tissue, for example a lower risk of coronary artery disease. A recent study reported a case of a person affected by DS who carried mutations in FBN1, the gene causative for a connective tissue disorder called Marfan Syndrome (MFS). The fact that the person did not have any cardiac alterations suggested compensation effects due to DS. This observation is supported by a previous DS meta-analysis at the molecular level where we have found an overall upregulation of FBN1 (which is usually downregulated in MFS). Additionally, that result was cross-validated with independent expression data from DS heart tissue. The aim of this work is to elucidate the role of FBN1 in DS and to establish a molecular link to MFS and MFS-related syndromes using a computational approach. To reach that, we conducted different analytical approaches over two DS studies (our previous meta-analysis and independent expression data from DS heart tissue) and revealed expression alterations in the FBN1 interaction network, in FBN1 co-expressed genes and FBN1-related pathways. After merging the significant results from different datasets with a Bayesian approach, we prioritized 85 genes that were able to distinguish control from DS cases. We further found evidence for several of these genes (47%), such as FBN1, DCN, and COL1A2, being dysregulated in MFS and MFS-related diseases. Consequently, we further encourage the scientific community to take into account FBN1 and its related network for the study of DS cardiovascular characteristics.

show abstract

Section: Discussionmentioning

confidence: 98%

An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21

2013

View full text Add to dashboard Cite

show abstract

“…The decreased bone turnover in Down syndrome is an entirely unexpected result, given the hypogonadism and infertility apparent in both animals and humans with the disorder 52,53 . Although hypogonadism is a consistent finding in men with Down syndrome, 10,28,54 the pathophysiology of the infertility in men with Down syndrome remains unclear.…”

Section: Discussionmentioning

confidence: 99%

“…However, what is clear is that males with Down syndrome are generally infertile and have significant disruption of one or more levels of the hypothalamic-pituitary-gonadal axis resulting in elevated FSH and LH levels and inconsistent testosterone levels, that are frequently in the low-normal range 28,29,52 . Whatever the final cause of the hypogonadism and infertility in males, our current appreciation of the endocrine regulation of bone would favor significantly increased, not decreased bone turnover.…”

Section: Discussionmentioning

confidence: 99%

“…Patients with Down syndrome also have a high frequency of abnormalities in sexual development such that infertility, cryptorchidism, small testes and delayed puberty have been reported 28 . Interestingly, Hsiang et al evaluated gonadal function in noninstitutionalized patients with Down syndrome (53 boys and men and 47 girls and women) 29 .…”

Section: Down Syndrome Pathologiesmentioning

confidence: 99%

See 1 more Smart Citation

Aneuploidy and Skeletal Health

Kamalakar

Harris

McKelvey

et al. 2014

Curr Osteoporos Rep

View full text Add to dashboard Cite

The normal human chromosome complement consists of 46 chromosomes comprising 22 morphologically different pairs of autosomes and one pair of sex chromosomes. Variations in either chromosome number and/or structure frequently result in significant mental impairment, and/or a variety of other clinical problems, among them, altered bone mass and strength. Chromosomal syndromes associated with specific chromosomal abnormalities are classified as either numerical or structural and may involve more than one chromosome. Aneuploidy refers to the presence of an extra copy of a specific chromosome, or trisomy, as seen in Down’s syndrome (trisomy 21), or the absence of a single chromosome, or monosomy, as seen in Turner syndrome (a single X chromosome in females: 45, X). Aneuploidies have diverse phenotypic consequences, ranging from severe mental retardation and developmental abnormalities to increased susceptibility to various neoplasms and premature death. In fact, trisomy 21 is the prototypical aneuploidy in humans, is the most common genetic abnormality associated with longevity and is one of the most widespread genetic causes of intellectual disability. In this review, the impact of trisomy 21 on the bone mass, architecture, skeletal health and quality of life of people with Down syndrome will be discussed.

show abstract