NONVIRILIZED

A CASE REPORT OF KALLMANN SYNDROME

Abstract

INTRODUCTION
Kallmann Syndrome is a rare genetic disorder characterized by hypogonadotropic hypogonadism and hyposmia or anosmia due to mutations in one or more genes associated with olfactory bulb morphogenesis and the migration of GnRH neurons from their origin in the region of the olfactory placode.

CASE
A 25-year-old male initially consulted due to infertility. He had eunuchoid body proportion, high-pitched voice, absence of facial, axillary hair and pubic hair and small-sized penis. Laboratory work-up revealed an inappropriately normal serum luteinizing hormone and decreased serum testosterone level. Cranial MRI with contrast revealed empty sella. He was given supplementary Testosterone injection. At this time, he noticed development of sparse axillary hair, pubic hair, and decreased tone of voice. Examination of the genitalia revealing penis and testes at Tanner Stage III. He is currently receiving his testosterone injections which are 8 weeks apart aimed at maintaining his testosterone level at the mid normal range.

CONCLUSION
A thorough history and physical examination is needed and supplemented with appropriate diagnostic examinations for proper management of our patient. Although a rare disorder, we must include this differential diagnosis in approaching the case.