Diagnostic Tests for Kallmann's Syndrome and Hypogonadotrophic Hypogonadism

Physical symptoms:

There are a range of physical symptoms that are associated with Kallmann's syndrome and HH. Some are classic markers and are key features of Kallmann's Syndrome and HH. Others are less common and may or may not be a result of Kallmann's syndrome or HH.

The first step is for doctors to distinguish between a delay of puberty and a true case of HH.

It has been suggested that if a boy has not shown any signs of starting puberty by age of 14 or if girls have not started having periods by the age of 14 then they should be referred to a endocrinologist to investigate the cause of the delay.

Many of the symptoms are due to the lack of testosterone release by the testes or oestrogen / progesterone release by the ovaries. It is difficult but not impossible for Kallmann's Syndrome or HH to be diagnosed before puberty is due. However the majority of cases are diagnosed in the early 20's unless there is a family history that alerts doctors earlier.

The majority of Kallmann's and HH cases are congenital, but there have been cases of HH being acquired later in life, usually by men between the ages of 30 to 50.

• Lack of sense of smell. - Absent sense of smell or vastly reduced sense of smell is found in Kallmann's syndrome. It has been estimated that 50% of HH cases can be classed as Kallmann's syndrome. The rest can be classed as normosomic HH (i.e.. normal sense of smell.)

• Increased risk of osteoporosis

• Dry skin, little or no acne

• Lack of muscle block

• No sperm produced

• Underdeveloped prostate gland

• Lack of testicular volume

• Lack of penile growth 

• Low sexual potency & libido and possibly erectile dysfunction

• Eunuchoid body proportions - the bones in the legs & arms grow at a faster rate than the rest of the body, creating an out of proportion look.

• Uneven fat distribution.

• Failure of periods to start / amenorrhea

• Lack of breast development

• Dyspareunia - painful intercourse for women due to decrease in lubrication of the vagina.

There are some  symptoms that are evident very early in life which may lead doctors to suspect a case of Kallmann's Syndrome or HH

• Micropenis

• Bilateral un-descended testes. The testes should descend into the scrotum within a few months of birth. If they do not the condition is known as cryptorchidism. In most cases this can be rectified by either medication or a simple operation. Cryptorchidism is a common enough event in boys, but it does occur in over 80% of all x-linked Kallmann's syndrome cases. 

• Unilateral renal agenesis. Absence of one of the kidneys is found in about 30% of all x-linked Kallmann's syndrome cases.

There are some further symptoms that have been reported in papers as being associated with Kallmann's syndrome or HH, however the numbers reported are so low it is difficult to tell if these symptoms are a result of Kallmann's Syndrome or HH.

• Nerve deafness

• Cleft lip & cleft palate

• Mirror movements of hands

• Congenital heart defects - fatigue, dyspenea, cyanosis or palputations

• Epilepsy