Why didn't I go through puberty at all?
Absent puberty is one of the main characteristics of Kallmann's syndrome.The function of the hypothalamic-pituitary-gonadal axis (described in the answer to Question 5) is interrupted in the case of Kallmann's syndrome. Puberty fails to occur and consequently, although the primary sexual characteristics may be intact, the secondary sexual characteristics are delayed until the patient receives appropriate medical treatment over a number of years which artificially encourages puberty.
With the help of Figure 7, you will see that your hypothalamus is unable to produce and release GnRH. This is because your hypothalamus does not (and never will) contain GnRH cells. Consequently, none of the other hormones needed for pubertal development can be released into your blood to perform their respective tasks. How does all this relate to you ?
The man with Kallmann's syndrome
Without GnRH, no LH or FSH can be released. Without LH, you produce no testosterone apart from the relatively small amount (about 5%) from your adrenal glands. Without FSH, growth, development and maturation of the sperm cells are unable to occur and you are infertile. Secondary sexual characteristics are virtually non-existent. Typically, untreated men with Kallmann's syndrome have high-pitched voices, little redistributed muscle tissue and testes the size of those of pre-pubertal boys. A male patient may also have undescended testes and a small penis (microphallus).It is possible to induce puberty artificially through HRT (Hormone Replacement Therapy), but just like normal puberty, artificial inducement may take several years. However, even once the secondary sexual characteristics have been restored, you will need to have treatment on a permanent basis. In many cases, your infertility too may be reversed, but this depends on a number of factors which are discussed in the answer to Questions 8 & 24. Nevertheless, there is a good chance for many men with Kallmann's syndrome to become fertile. Successfully treated patients are able to have children of their own for as long as they receive fertility treatment.


