Kallmann Syndrome: A Case Report
Abstract
A 32 yr old woman came to the hospital with a history of treatment for primary amenorrhea once in 2007. Diagnosis of Kallmann syndrome was made based on her complaint of amenorrhea and anosmia. Physical examination revealed abnormal growth of secondary sexual characteristic including undeveloped breasts, lack of armpit and pubic hair. The external genitalia examination showed very slightly pubic hair, a small labia minora, and vagina (± 0.5 cm diameter, 5 cm depth). The abdominal ultrasound examination showed a small uterus. Bone marrow densitometry examination denoted osteoporosis in L1, L2, L3, L4 vertebrae and pelvic bone. Chromosomal examination showed the karyotype of 46 XX. The olfactory test resulted in anosmia. Kallmann syndrome is a developmental disorder which consists of a combination of hypogonadotropic-hypogonadism and anosmia. The characteristics of patients diagnosed with Kallmann syndrome were delayed puberty and anosmia. A chromosomal and hormonal examination might be performed to rule out Klinefelter
and Turner syndrome. Magnetic Resonance Imaging (MRI) examination was useful to determine whether there was any olfactory bulb or pituitary gland and hypothalamus disorder. Patient’s management included hormone replacement therapy and fertility therapy to maintain healthy hormone circulation equal to a normal physiological value according to patients’ ages. In this case, the effect of the drugs was to build a temporary endometrial wall. Once the pills are stopped, the patient will not undergo her menstruation phase anymore because of her pituitary hormone production is inadequate. This medication also gave more strength to bones due to her osteoporosis.
Keywords: Amenorrhea, Anosmia, Genetic disorder, Hypogonadismhypogonadotropic, Kallmann syndrome.
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