Endocrinol Metab.  2010 Jun;25(2):142-146. 10.3803/EnM.2010.25.2.142.

A Case of Kallmann's Syndrome with Frontal Lobe Atrophy and Mental Retardation

• Hyun S
• Park S
• Kang DG
• Jeong SU
• Lee DH
• Koh G

• KMID: 2169021
• DOI: http://doi.org/10.3803/EnM.2010.25.2.142

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.

Keyword

Frontal lobe atrophy; Kallmann's syndrome; Mental retardation

MeSH Terms

Adolescent
Atrophy
Cleft Lip
Cleft Palate
Color Vision Defects
Congenital Abnormalities
Follicle Stimulating Hormone
Frontal Lobe
Genital Diseases, Male
Hearing Loss
Humans
Hypogonadism
Intellectual Disability
Kallmann Syndrome
Kidney
Kidney Diseases
Korea
Luteinizing Hormone
Magnetic Resonance Imaging
Obesity
Olfaction Disorders
Penis
Testosterone
Thyrotropin
Congenital Abnormalities
Follicle Stimulating Hormone
Genital Diseases, Male
Kidney
Kidney Diseases
Luteinizing Hormone
Penis
Testosterone
Thyrotropin

Figure

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  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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