Kallmann Syndrome (KS)

Definition - What does Kallmann Syndrome (KS) mean?

Kallmann syndrome (KS) is a rare genetic disorder caused by a lack of an essential sex hormone, gonadotropin-releasing hormone (GnRH), in the body. KS causes a delay or absence in puberty along with a diminished or absent sense of smell. Without treatment, KS would result in infertility. KS is classified as a hypogonadotropic hypogonadism (HH) disorder.

FertilitySmarts explains Kallmann Syndrome (KS)

GnRH is produced in the segment of the brain called the hypothalamus. Once GnRH is produced, it triggers the pituitary gland to secrete two additional hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). FSH and LH are primary components of the body’s reproductive system. Someone with KS would fail to experience the symptoms typically associated with puberty. In young females, these symptoms include:

  • First menstrual period (menarche)
  • Breast growth
  • Pubic hair growth

Young males with KS may experience symptoms prior to the onset of puberty, including an abnormally small penis (micropenis) and undescended testicles. At puberty, a male with KS would fail to experience typical changes, including:

  • Voice deepening
  • Body hair growth
Additionally, both males and females may experience additional complications present at birth or throughout early development, including:
  • Cleft palate
  • Childhood obesity
  • Short fingers
  • Missing kidney
  • Deafness
  • Problems with eye movement
  • Scoliosis

If additional complications are not present, diagnoses would likely not occur until puberty fails to initiate. In order to test for Kallmann syndrome a test called a stimulation is completed. The hormone GnRH is administered via injection, and the patient’s hormone levels are monitored through blood testing. If the body does not register the hormone, and GnRH levels remain low, Kallmann’s syndrome is diagnosed.

Without diagnosis and treatment, KS will prevent the body from achieving sexual maturity. As a result, the individual would become infertile. Women's bodies would not ovulate, and men's bodies would not produce sperm.

The lack of sexual development and infertility can both be treated through ongoing, long term hormone replacement therapy. This may occur orally or by injection. Other complications of the syndrome, including the rare conditions listed, are treated separately as needed. However, there is no treatment for the lack of scent.

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