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How is Kalman syndrome diagnosed, or delayed puberty

Kalman syndrome (KS) is a rare genetic disease in humans. It is determined by the delay, the absence of signs of puberty in combination with the absence or violation of the sense of smell.
Diagnosis of the syndrome is often difficult, since up to adolescence in a child, symptoms may be unexpressed or absent altogether. The absence of pubertal changes that are detected by visual examination is important in diagnosing the patient’s condition. In addition, other diagnostic tests are performed to detect, first of all, decreased smell, genetic mutations or structural disorders of the endocrine glands that can cause similar symptoms.
Disease history

The most distinctive feature that usually prompts patients to seek medical attention is a partial or complete absence of puberty. Men may report symptoms such as decreased libido, erectile dysfunction, decreased muscle mass, and decreased aggressiveness.

In men, the growth of hair on the face, pubis and body may be absent or reduced, a high tone of the voice, redistribution of fat on the hips and chest and a small penis less than 8 cm long may be observed. Women with the syndrome may have amenorrhea, the absence of menstrual periods for at least six months contract. Kalman’s syndrome in a woman is also manifested by a lack of development of the mammary glands, a decrease in the growth of pubic hair.

Physical examination

Patients with Kalman syndrome have a low ratio of upper body segment to lower body segment: less than 1: 1. In addition, patients often have an extension of the arm at least 5 cm greater than their height. People often note a lack of smell, but most of them do not go to doctors because of this symptom. Reproductive symptoms predominate, and non-reproductive symptoms that may occur in patients with Kalman syndrome include: facial defects (eg, cleft lip, palate); lack of one kidney; deafness anomalous eye movement.

Often the disease is diagnosed by an endocrinologist. After a clinical examination, a biochemical blood test is performed, imaging tests to confirm the diagnosis. Since this is a genetic condition, various genetic forms of the disease are also being tested. Molecular testing determines the specific genes that are responsible for the occurrence of the disease.

Lack of smell as a symptom of Kalman syndrome

Another characteristic symptom of Kalman syndrome is a decrease or lack of smell. This can be measured using a test, such as a smell identification test. It includes the detection of the smell of 40 microencapsulated fragrances, which can be easily carried out in normal practice. The sense of smell will be described as anosmia or hyposmia in patients with Kalman syndrome.
Other diagnostic tests

Biochemical testing is also used in the diagnosis of Kalman syndrome. Since gonadorelin levels cannot be measured directly, the serum concentration of gonadotropins such as luteinizing hormone (LH), follicle-stimulating hormone (FSH) and sex hormones is measured. Affected patients will have low or normal levels of LH and FSH, along with low levels of testosterone and estradiol in men and women, respectively.
In addition, imaging techniques may be required to study the structure of the endocrine glands involved. Magnetic resonance imaging (MRI) is often used to investigate structural disorders that can cause symptoms and require treatment.

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