Kallmann syndrome is the most common form of isolated gonadotropin deficiency. The disease runs in families, usually in several of its male representatives. Kallmann's syndrome is treated with chronic testosterone administration.
Kallmann syndromeis an autosomal dominant or X-linked disease (mutation in the Xp22.3 region of the KAL1 gene). The disease is diagnosed in approximately 1 in 10,000 live births of male offspring. There are also cases of autosomal recessive inheritance.
Kallmann's syndrome is one of the causes of delayed puberty. This means no puberty after the age of 14.
Kallmann syndrome consists of anosmia (anosmia) and hypogonadotrophic hypogonadism, which includes hypogonadism due to the lack of stimulation of their work by gonadotropic hormones of the pituitary gland.
In other words, the body of a sick person lacks gonadoliberins produced by the hypothalamus, which means that the pituitary gland does not produce luteinotropic (LH) and follicle-stimulating hormones (FSH).
The consequence of this state is that the gonads do not fulfill their hormonal functions, because for this it is necessary to properly release hormones along the entire axis.
Kallmann syndrome and hypogonadism
Kallmann syndrome is one of the causes of male hypogonadism. The sooner it is detected, the better, as early diagnosis allows you to start substitution treatment and avoid the symptoms of hypogonadotrophic hypogonadism.
Kallmann's syndrome is also one of the causes of delayed puberty. The symptoms of the disease are primarily hypogonadotrophic hypogonadism (i.e. hypogonadism due to the lack of gonadotropic hormones of pituitary origin), as well as impaired sense of smell (hypoosmia) or its absence (anosmia).
The condition is usually diagnosed in men under the age of 18.
Kallmann syndrome - symptoms
The basic and easy to observe symptom of the disease is small penis and cryptorchidism, occurring already in the early childhood period. Other and less frequent symptoms include:
- hearing loss
- kidney defects
- cleft lip and palate
- iris slit
- disordersview
- malocclusion
- midline defects
- gynoid body (short torso, long limbs, tall)
- gynecomastia, i.e. enlargement of the mammary glands
- bone defects
- heart defects
Small penis size and cryptorchidism are found in boys with Kallmann syndrome quite early, but full diagnostics is usually performed when a teenager or a young adult shows signs of delayed puberty.
The main symptoms of hypogonadism are:
- underdevelopment of external genitalia
- no voice mutation, breast enlargement in boys
- no bends
- weak beard growth
- no acne and seborrhea
- anemia
- osteoporosis
- low muscle mass and strength
- micropenis
- lack of potency
- no ejaculate
- small undescended testicles
Kallmann syndrome - treatment
Treatment of patients with Kallmann syndrome, and more specifically hypogonadotrophic hypogonadism, depends on the patient's age. Most often, the therapy begins with the administration of testosterone.
After a few months, you can temporarily stop using testosterone temporarily to see if the hypothalamus has spontaneously resumed its natural functions.
In the treatment of hypogonadism, the aspect of male fertility is extremely important. To stimulate spermatogenesis, i.e. the production of male reproductive cells, human chorionic gonadotrophin (LH equivalent) and menopausal gonadotrophin (FSH equivalent) are used. Most patients can achieve spermatogenesis.
Patients who receive treatment early have a better quality of life because they develop properly.
Hypogonadism in men - other causes
Hypogonadism in men can result from many medical conditions. It is worth adding that the natural state of the male sex is hypogonadism resulting from andropause, i.e. the natural aging of the male reproductive system. Other causes of hypogonadism are:
- congenital lack of testicles
- testicular underdevelopment
- Klinefelter's syndrome
- bilateral cryptorchidism
- testicular cancer
- chemotherapy and radiotherapy
- testicular atrophy due to injuries or inflammation
- hemochromatosis
Factors in the pituitary and hypothalamus may also be the cause of hypogonadotrophic hypogonadism. They are:
- hypothalamic and pituitary tumors
- sarcoidosis
- tuberculosis
- leukemia infiltrates
- infections
- malnutrition
- urazy
- vascular defects
- drug use
Anna Jarosz A journalist who has been involved in popularizing he alth education for over 40 years. Winner of many competitions for journalists dealing with medicine and he alth. She received, among others The "Golden OTIS" Trust Award in the "Media and He alth" category, St. Kamil awarded on the occasion of the World Day of the Sick, twice the "Crystal Pen" in the national competition for journalists promoting he alth, and many awards and distinctions in competitions for the "Medical Journalist of the Year" organized by the Polish Association of Journalists for He alth.
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