PubMed · 14097640
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S GOSFAY. 1963. [A MODIFIED RETROPNEUMOPERITONEUM METHOD].. https://pubmed.ncbi.nlm.nih.gov/14097640/
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Mutations in DAX-1 gene cause congenital adrenal hypoplasia (AHC). We present a male patient affected by X-linked adrenal hypoplasia congenita due to a novel DAX-1 missense mutation. The mutation V287G affects the C-terminal end of the DAX-1 protein which plays an important role in functioning of the receptor. In addition, our patient presented an inappropriate tall stature and renal ectopy, which have not been described in AHC so far.
Imaging plays a vital role in the evaluation of adrenal pathology. The most widely used modalities are computed tomography and magnetic resonance imaging. Alone or in conjunction with appropriate clinical and biochemical data, imaging can provide specific diagnoses that preclude the need for tissue sampling. This article reviews imaging features of normal and diseased adrenals, from both benign and malignant causes.
In the abdominal ultrasonography, the representation of normal adrenal glands is frequently problematic, also for experienced practitioners in ultrasonography. During a seminary at the congress of the SGUM in Davos, in June 2004, it was specially entered to this problematic by anatomical illustrations and live demonstrations. These statements will be summarized in the following article. Also, the technics of examination of the adrenal glands will be explained, especially in comparison to anatomical cut-preparations. It will be entered to particular pathological statements of the adrenal glands. The proceeding will be described by the localisation of accidentally detected tumours of adrenal glands.