J Korean Soc Endocrinol.  2005 Feb;20(1):96-102. 10.3803/jkes.2005.20.1.96.

A Case of Kallmann's Syndrome with Unilateral Renal Aplasia and Diabetes Mellitus

• Lee EJ
• Hong SW
• Hong YK
• Yoon JS
• Mok JO
• Kim YJ
• Park HK
• Kim CH
• Kim SJ
• Byun DW
• Bae WK
• Suh KI
• Yoo MH

• KMID: 2100459
• DOI: http://doi.org/10.3803/jkes.2005.20.1.96

Abstract

Kallmann's syndrome is defined as the combination of hypogonadotropic hypogonadism and anosmia/hyposmia. The syndrome is a result of defect in the embryonic migratory pathway of gonadotropin-releasing hormone, which synthesizes neurons and olfactory axons. The hypogonadotropic hypogonadism results due to absence of or incomplete pubertal development and may be associated with anosmia, hyposmia, midline defect(color blindness, cleft-lip, cleft-palate, unilateral renal agenesis, sensorineural deafness), cryptorchidism and skeletal anomaly. Till date in Korea, few cases of Kallmann's syndrome have been reported but there are no available reports on cases of Kallmann's syndrome with unilateral renal aplasia and diabetes mellitus. We handled a case of Kallmann's syndrome associated with unilateral renal agenesis and diabetes mellitus. In the current work, we present a peculiar case as afore mentioned with the review of related literature.

MeSH Terms

Axons
Blindness
Cryptorchidism
Diabetes Mellitus*
Gonadotropin-Releasing Hormone
Hypogonadism
Kallmann Syndrome*
Korea
Male
Neurons
Olfaction Disorders
Gonadotropin-Releasing Hormone

Figure

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  Fig. 1. General appearance of patient.

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  Fig. 2. The patient revealed to be delayed sexual development with small testis (1×1 cm) and penis (3.5 cm).

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  Fig. 3. FISH shows normal KAL 1 gene located in 22.3 region of short arm of X-chromosome.

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  Fig. 4. Abdominal USG shows non-visualization of right kidney.

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  Fig. 5. Sellar MRI shows bilateral absence of both olfactory bulb and olfactory sulci.

Reference

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