Hypospadias is the displacement of the urethral meatus from the tip of the glans to the ventral side of the phallus. During fetal development, SRY, SOX9, WT1, SRD5A2 and AR are important at different stages in the differentiation and development of the male genital system. Mutations in these genes impair masculinization and may be associated with hypospadias. In order to explore these possibilities, we employed polymerase chain reaction and direct sequencing to analyze the coding regions of these five genes in 90 Chinese hypospadias patients. We found a total of 16 different mutations in SRD5A2, AR and WT1 in 24 of these 90 patients. Seven mutations are novel. No mutation was found in SRY or SOX9. SNP V89L found in SRD5A2 was statistically significant between patients and controls. Our results indicated that mutations in SRD5A2, AR and WT1 were associated with hypospadias. In conclusion, mutations are frequently found in genes that control androgen action and metabolism, but are seldom found in genes active in the early phase of sex determination and differentiation. Mutations in AR, SRD5A2 or WT1 seem to be associated not only with hypospadias but also with micropenis.
The aesthetic surgeon may occasionally be consulted by a patient who wishes to discuss what can be done for the scars of self-inflicted wounds on the forearms. These scars are popularly referred to as "hesitation marks" or "suicide gestures." Unlike patients suffering from factitial ulcers or Münchhausen syndrome, these patients will admit to the physician that the scars are the result of self-inflicted wounds. These scars often consist of multiple, parallel, white lines extending up and down the forearms (usually volar surface), with more on the nondominant side. Although the pattern of these scars is apparently what drives these patients to the aesthetic surgeon for relief (because even lay people identify these scars as self-inflicted suicide marks), the authors propose a new and deeper motivation for surgery. Recent experiences with three of these patients resulted in an epiphany that prompted this report. Once the symbolic meaning of these scars was broached, a torrent of thoughts and theories followed. This article will recount these three cases and present a central thesis for this type of self-inflicted injury. A proposal for the proper surgical treatment of this condition will be offered. Uniquely, two of the patients will relate their own stories and propose guidelines and warnings for the aesthetic surgeon.
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