Publications by authors named "J C Achermann"
Article Synopsis
- A study investigated diabetes risk factors and glucose tolerance in 106 women with Turner Syndrome (TS), revealing that a significant portion presented with normal glucose tolerance, while a smaller percentage had impaired glucose tolerance (IGT) or diabetes mellitus (DM).
- The research found no link between autoimmune markers and DM, but noted that women with IGT or DM were generally older and had higher body mass indices and insulin resistance.
- The findings suggest that TS-related DM shares characteristics of both type 1 and type 2 diabetes, with weight and insulin resistance being key factors; assessing specific markers may help predict future insulin needs.
The Y-linked SRY gene initiates mammalian testis-determination. However, how the expression of SRY is regulated remains elusive. Here, we demonstrate that a conserved steroidogenic factor-1 (SF-1)/NR5A1 binding enhancer is required for appropriate SRY expression to initiate testis-determination in humans.
View Article and Find Full Text PDFBackground: Heterozygous variants in the gene cause the complex multisystem disorder, MIRAGE syndrome. Patients are characterised by myelodysplasia, infections, growth restriction, adrenal insufficiency, gonadal dysfunction and enteropathies. Pathogenic variants in SAMD9 are gain-of-function and enhance its role as a growth repressor, leading to growth restriction of many tissues.
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