Journal List > Endocrinol Metab > v.25(2) > 1085816

Hyun, Park, Kang, Jeong, Lee, and Koh: A Case of Kallmann's Syndrome with Frontal Lobe Atrophy and Mental Retardation

Abstract

Kallmann's syndrome is a rare condition, and this is defined as hypogonadotropic hypogonadism and anosmia or hyposmia. The syndrome may be associated with cleft lip, cleft palate, color blindness, skeletal abnormalities, renal agenesis, sensory neural hearing loss, obesity, etc. About 10 cases of Kallmann's syndrome have been reported in Korea, but there are no reports on cases of Kallmann's syndrome with atrophy of the frontal lobe, severe mental retardation and unilateral renal agenesis. We experienced a case of 17-year-old boy with abnormalities of the olfactory system, as was noted on magnetic resonance imaging (MRI). He had an atrophy of the frontal lobe, mental retardation, a micropenis and unilateral renal agenesis. Hormonal assay documented low levels of luteinizing hormone (LH), follicle stimulating hormone (FSH), testosterone and thyroid-stimulating hormone (TSH). So, we report here on an unusual case of Kallmann's syndrome along with briefly reviewing the relevant medical literature.

Figures and Tables

Fig. 1
General appearance of the patient.
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Fig. 2
The patient revealed to be delayed sexual development with small testis and penis volume of right testis is 5 mL and left testis is normal volume. Length of penis is 3.5 cm (Tanner stage II). There are no pubic hairs and axillary hairs (Tanner stage I ).
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Fig. 3
Abdominal CT scan shows non-visualization of left kidney.
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Fig. 4
Coronal section of brain MRI of the patient shows bilateral absence of both olfactory bulb. But, olfactory sulcus is intact (arrow). Sagittal section of brain MRI of the patient shows an atrophy of frontal lobe and relatively small size brain volume, small size pituitary gland.
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Table 1
Results of the combined pituitary stimulation test
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ACTH, adrenocorticotropic hormone; FSH, follicle stimulating hormone; GH, growth hormone; LH, luteinizing hormone; PRL, prolactin; TSH, thyroid-stimulating hormone.

Table 2
After result of the post-GnRH priming GnRH and TRH stimulation tests
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FSH, follicle stimulating hormone; GnRH, gonadotropin releasing hormone; LH, luteinizing hormone; TRH, thyrotropin releasing hormone; TSH, thyroid-stimulating hormone.

References

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