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 ?

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.

As an untreated woman with Kallmann's syndrome, you are also sexually immature and infertile because you failed to go through puberty. Your hips did not widen, your breasts failed to grow and it is highly unlikely that you had any growth of pubic and armpit hair. You are infertile because your egg cells are unable to mature in your ovaries without the influence of LH and FSH.

In the answer to Question 6 the normal menstrual cycle was discussed. Since both LH and FSH help to regulate the menstrual cycle, their absence results in the lack of menstruation. This is called primary amenorrhoea.

Look at Figure 8. You have amenorrhoea because you have no LH or FSH and therefore your ovaries cannot manufacture the required amounts of oestrogen and progesterone. You have only a very small amount of oestrogen in your blood and this is the oestrogen made by your adrenal glands. With these extremely low hormone levels (progesterone in particular), your uterus cannot work properly because its active layer (endometrium) fails to thicken.

There is no menstruation and this can only be corrected with hormone replacement therapy. Several different types of therapy are available on the NHS and in almost all cases, the normal menstrual cycle can be simulated as closely as possible for as long as treatment is given. If treatment is stopped though, the menstrual cycle can no longer be maintained and amenorrhoea eventually returns. Hormone replacement therapy is discussed in more detail later in the answers to Questions 19 & 24.

All men have small quantities of the female sex hormone oestrogen, as well as testosterone, in their blood. Similarly, every woman has traces of the male sex hormone testosterone, as well as native oestrogens, in her body. The presence of female oestrogens in males sometimes causes a minor condition called gynaecomastia, or a female-like enlargement of one or both breasts (see answer to Question 14). Occasionally, this may also be a side-effect of the testosterone or gonadotrophin therapy offered to males with Kallmann's syndrome. However, it is generally believed that gynaecomastia does not occur any more frequently amongst the male Kallmann's syndrome population than that which often occurs in healthy teenage boys and in those who are overweight.

Virtually everybody with Kallmann's syndrome, apart from being sexually underdeveloped and infertile unless treated, have little or no sense of smell. It is not yet possible to treat anosmia.