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卡爾曼氏綜合症

Name of disease:

Kallmann Syndrome

ICD-10 diagnosis code:

E23.0

Causes:

Kallmann syndrome is associated with the mutation of KAL1, FGFR1, FGF8, CHD7, SOX10, PROKR2 and PROK2 genes. There will be the deficiency of gonadotropin-releasing hormone, causing the delay or no sexual development during puberty.

Mode of inheritance:

Kallmann syndrome cases can be sporadic or are inherited from parents in autosomal dominant, autosomal recessive or X-linked recessive pattern.

Prevalence:

1/ 30,000 in males and 1/ 125,000 in females

Diagnosis:

The diagnosis of Kallmann syndrome is based on clinical evidence of arrested sexual maturation and incomplete sexual maturation on physical examination. Biochemical testing for serum concentration of gonadotrophins and sex steroids can also be used for diagnosis.

Age of onset:

Childhood and adolescent

Common signs and symptoms:

Loss of smell Delayed puberty Abnormal fertility Small tastes and short penis in males Erectile abnormalities in males Underdeveloped breasts in females Decrease in bone density Low muscle mass

Available treatments (medicinal and non-medicinal):

The standard treatment is the hormone replacement therapy in order to induce puberty and maintain normal hormonal levels as well as induce fertility. For male, testosterone is used while for female, estrogen and progestin therapy is used.

Disease management tips:

Since patients might have loss of smell, they should be aware of the situation and take measures to reduce associated risks. For example, they should avoid eating foods that may have expired. Since patients may have a low circulating level of sex hormones, their bone mineral density may decrease. Therefore, bone mineral density should be measured to prevent osteoporosis. The dosage of hormone in hormone therapy shall be adjusted to tailor to each individual. For example, if the individual desires to conceive, dosage adjustment is necessary to induce fertility.

References:

https://rarediseases.org/rare-diseases/kallmann-syndrome/ https://rarediseases.info.nih.gov/diseases/10771/kallmann-syndrome

Other useful websites:

More about the disease: https://www.news-medical.net/health/Kallmann-Syndrome-Treatment.aspx Patient groups: The Pituitary Foundationhttps://www.pituitary.org.uk/home/