Endocrine Abstracts

Introduction: Kallmann syndrome is a rare genetic condition characterized by the association of a hypogonadotropic hypogonadism and anosmia. It results from the failure of GnRH cells to migrate to the hypothalamus and lack of development of the olfactory bulb. The main symptom of Kallmann syndrome is delayed or incomplete puberty usually associated with an impaired sense of smell. We herein describe a case of Kallmann syndrome discovered at the age of 57 years old.

Observation: We report the case of a 57 years old man, with a history of a pathologic fracture, referred to our department for exploration of gynecomastia. The patient didn’t reveal any symptoms such as erectile dysfunction or reduced sex drive, only an anosmia lasting since his youth. Physical examination revealed a grade 2 bilateral gynecomastia, a blood pressure of 150mmHg over 90mmHg. Examination of the external genital organs showed normal pubic hair, a micropenis measuring 5 cm and hypotrophic testis. On hormonal investigations, his testosterone levels were at 0,442 ng/ml, his LH levels were at 0,05 mUI/ml and his oestradiol levels were at 20,55 pg/ml (<62 pg/ml in male). His prolactin levels were normal at 2,68µg/l. Corticotropin and thyrotropin deficiency were excluded. On imaging investigations, he had an osteoporosis with a T-score at -5,2 and hypotrophic non nodular testis. The magnetic resonance imaging of the brain couldn’t be performed as the patient has metallic orthopedic devices. He was put under calcium, vitamin D, bisphosphonates and testosterone therapy after eliminating contraindication.

Conclusion: This case highlights a non-classical presentation of a Kallmann Syndrome discovered during the investigations of gynecomastia. The delay of diagnosis was due to the reluctance of the patient, explaining with the spontaneous onset of puberty, the late diagnosis at this age. The psychological impact of this disease could have been prevented with an early treatment.