Kallman syndrome is a rare genetic disease characterized by a delay in puberty and a reduction or absence of smell, due to a deficiency in the production of gonadotropin-releasing hormone.
Treatment involves the administration of gonadotropins and sex hormones and should be done as soon as possible to avoid physical and psychological consequences.
- Symptoms depend on genes that undergo mutations.
- The most common being the absence or reduction of the sense of late smell since puberty.
However, other symptoms may occur, such as color blindness, visual changes, deafness, cleft palate, renal and neurological abnormalities, and the absence of descent from the testicles to the scrotum.
Kallmann syndrome works due to mutations in genes that encode proteins responsible for neural development, causing changes in the development of the olfactory bulb and consequent changes in levels of gonadotropin-releasing hormone (GnRH).
A congenital deficiency of GnRH means that the hormones LH and FSH do not occur in sufficient amounts to stimulate the sex organs to produce testosterone and estradiol, delaying for example puberty.See what bodily changes occur at puberty.
Children who do not initiate sexual development around age 13 in girls and age 14 in boys, or boys who do not normally progress in adolescence, should be evaluated by the doctor.
Your doctor should analyze a person’s medical history, perform a physical exam, and request a measurement of plasma levels of gonadotropins.
Diagnosis should be made in time to initiate hormone replacement therapy and prevent the physical and psychological consequences of delayed puberty.
Treatment in men should be long-term, with the administration of human chorionic gonadotropin or testosterone and in women with cyclic estrogen and progesterone.
Fertility can also be restored by administering gonadotropins or by using a portable infusion pump to administer subcutaneous throbbing GnRH.