A RARE CASE OF KALLMAN SYNDROME IN A FEMALE

Abstract

INTRODUCTION/BACKGROUND
Kallman Syndrome, a rare genetic disorder referring to hypogonadotropic hypogonadism, is associated with anosmia or hyposmia. It is due to abnormal migration of gonadotrophin-releasing hormone-producing neurons. The reported incidence is 1 in 8000 in men and is 5 times rarer in women. We reviewed case notes, investigation results, and imaging studies and discussed treatment options based on literature review and treatment availability.

CASE
A 19-year-old female was referred to endocrinology for primary amenorrhoea with pituitary microadenomas. The patient was born to non-consanguineous parents. She is the second child with 3 healthy siblings. The patient cannot smell since childhood. On physical examination, Tanner's staging of the breasts and pubic hair were 3 and 1, respectively, with no axillary hair. Perineal examination revealed a not well-formed labia majora with well-formed labia minora. Urethra and vaginal orifice were seen. She had bilaterally small fingers. Ultrasound of the abdomen showed a small uterus at 2.1 x 1.1 cm with no ovaries seen. MRI of the brain showed bilateral pituitary microadenomas measuring 5 x 4 x 3 mm and 5 x 4 x 2 mm on the right and left side of the anterior pituitary lobe, respectively. Unfortunately, the olfactory bulb was not assessed. Hormonal assays identified a hypogonadotropic hypogonadism profile with total serum testosterone <0.24 nmol/L (NR: 0.29-1.21 nmol/L), serum oestrogen <43.3 pmol/L (NR: 59.1-874.6 pmol/L), serum luteinizing hormone 0.11 IU/L (NR: 1.0-52.5 IU/L), serum follicular stimulating hormone 1.02 IU/L (NR: 2.2-10.1 IU/L). Serum prolactin was normal at 79.23 uIU/mL. The patient was started on oestrogen pills and started to have fullness and tenderness in her breasts. She was referred to the Genetic Clinic for genetic studies.

CONCLUSION
Patients presenting with primary amenorrhoea and anosmia should prompt suspicion of Kallman Syndrome. Laboratory and radiological evaluation may be helpful as genetics confirmation will take time. Early detection and initiation of hormonal treatment will enable the progression of the secondary sexual characteristics. However, achieving fertility will still be a challenge depending on the availability of gonadotrophins or pulsatile GnRH therapy.