Penile agenesis
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Overview
Penile agenesis is a very rare birth defect in humans, occurring about once in 5-10 million births, where a male child is born without a penis. There were recently thought to be fewer but the condition is remarkably more frequent in India and South-east Asia. It is also known as aphallia [from the Greek, "a" for negative or no, and "phallia" for penis]. Most patients have no known family history of aphallia, and often have a normal male anatomy, save for the absence of the penis.
A partner condition is testicular or gonadal agenesis. This is where the male child is born without gonads and consequently develops no testes. The function of Leydig cells is to convert the gonads into testicles in males-to-be and into ovaries in females-to-be. In this condition, the process fails.
Penile agenesis can exist independently after full testicular development, though the causes of this in particular are uncertain. However, testicular agenesis can lead to its partner condition by due process. Testes are the sole producer of 5-alpha dihydrotestosterone (5aDHT) in the male body. Where the gonads fail to metamorphose into testes, there is no 5aDHT. Therefore the masculising process to build the genital tubercle which eventually becomes the penis is stillborn. Where this happens, the child is born with penile and testicular agenesis and is known by the slang term "nullo".
The sufferers of just one of the conditions usually continue as males throughout their lives. With very few exceptions the penile and testicular agenetic is brought up as a female and eventually undergoes feminising surgery. This is despite being 46xy karyotype male and having no female sexual characteristics. This is an unclear part of anatomy. The organs that prevent the development of the embryo into a female are called Anti-Mullerian hormones. They are commonly believed to be created in the testes, but male embryos without testes still appear to produce these hormones.
A problem with the full condition is the absence of a urinary outlet. This can be approached as follows. Before genital metamorphosis, the urethra runs down the anal wall, to be pulled away by the genital tubercle during male development. It remains there in the agenetic. In one case, 45 years ago, the surgeons redirected the urethra to the rim of the rectum immediately after birth (it is not good to urinate internally). The perineum (space between the rectum and where the genitalia would have been) is therefore smooth and devoid of any organs, male or female, as is the internal body.
The "sex-change" is a human rights issue that will never be tackled due to the very small number of sufferers. This column is only aware of one full agenetic still living as a male in the world today.
Within a few years full male genital constructive surgery will be available so there will thankfully be no more penile and testicular agenetics cheated out of their masculinity. At the moment the operation is still in the proving stage, although one of the full agenetics is part-way through this surgery but has for his own reasons surprisingly postponed it.