Kallmann syndrome (patient information)

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Overview

Kallmann syndrome is a disorder characterized by absent or decreased function of the male testes or the female ovaries. It is a rare kind of hereditary disease. Usual signs and symptoms include anosmia, short stature, underdeveloped testicles and lack of development at puberty and absence of secondary sexual characteristics. Researches have demonstrated gene mutations in the KAL1, FGFR1, PROKR2, and PROK2 cause Kallmann syndrome. Clinical appearance of the patient, hormone tests and crinial MRI may help doctor diagnose the disorder. Treatment for patients with Kallmann syndrome involves gonadal steroids to induce and maintain secondary sex characteristics and help fertility. Many patients have good prognosis with the right hormone treatment.

How do I know if my child has Kallmann syndrome and what are the symptoms of Kallmann syndrome?

Usual signs and symptoms include:

• Underdeveloped testicles
• Lack of development at puberty and absence of secondary sexual characteristics such as pubic, facial, and underarm hair
• Short stature
• Anosmia

Who is at risk for Kallmann syndrome?

Researches have demonstrated gene mutations in the KAL1, FGFR1, PROKR2, and PROK2 cause Kallmann syndrome.

How to know you have Kallmann syndrome?

• Clinical appearance is the base for the diagnosis of Kallmann syndrome.
• Hormone tests: Hormones such as estrogen, FSH, LH or testosterone, and thyroid, prolactin are needed to check to help doctors identify the diagnosis.
• LH response to GnRH: This test is used to tell the difference between primary and secondary hypogonadism and can indirectly determine the pituitary gland's ability to appropriately respond to GnRH, a hormone produced in the hypothalamus. During the procedure, blood samples are drawn before and after the injection of GnRH.
• Cranial MRI: This imaging in patients with Kallmann syndrome may show deficient of olfactory bulb.

When to seek urgent medical care?

Call your health care provider if you have any signs and symptoms of Kallmann syndrome.

Treatment options

Treatment for Kallmann syndrome is to use gonadal steroids to induce and maintain secondary sex characteristics, to stimulate spermatogenesis and folliculogenesis.

Diseases with similar symptoms

• Hypopituitarism
• Delayed puberty

Where to find medical care for Kallmann syndrome?

Directions to Hospitals Treating Kallmann syndrome

Prevention of Kallmann syndrome

As Kallmann syndrome is a kind of hereditary disease, genetic counseling for the carrier parents is very necessary and important.

What to expect (Outook/Prognosis)?

With the right hormone treatment, the person can begin puberty and fertility may be recoverd.

Copyleft Sources

http://ghr.nlm.nih.gov/condition=kallmannsyndrome

http://www.nlm.nih.gov/medlineplus/ency/article/000390.htm