CHALLENGES IN MANAGING IN A RARE CASE OF FEMALE KALLMANN SYNDROME

Abstract

INTRODUCTION
Kallmann syndrome (KS), characterised by anosmic hypogonadotrophic hypogonadonism, is a very rare genetic disorder in females. Delayed diagnosis presents additional management challenges. We report the case of a 58-year-old female diagnosed at 37 years old.

CASE
She had asymptomatic primary amenorrhoea, anosmia, absence of secondary sexual characteristics and low body mass. There were no eunuchoidal features but her weight was subnormal, with hypogonadotrophic hypogonadism. Breakthrough menstruation with progestin challenge test suggested anovulation. Her gender was confirmed with cytogenetic analysis. Hormone replacement therapy (HRT) was initiated with a priming dose of conjugated estrogen. Subsequently, estrogen was increased to 0.625 mg BD (day 1 to 21) and progesterone 5 mg (day 14 to 12) was added. In the first 6 months after HRT initiation, there were notable physical changes including increase in axillary hair growth and breast development of stage 2 to 3. Comorbidities of multinodular goitre, osteoporosis, dyslipidemia and paroxysmal supraventricular tachycardia evolved during the follow up, and were intensively investigated and managed accordingly. Despite HRT and subsequent antiosteoporotic treatment with alendronate and optimal nutrition for 2 years, there was no improvement in bone mineral density.

CONCLUSION
To the best of our knowledge, we reported the first female Kallmann syndrome in the postmenopausal age group with multiple comorbidities. While dyslipidemia may reflect the weaning of HRT, the evidence base on how to optimise the benefits of HRT in a female patient with Kallmann syndrome including type, combination, dosage and duration of treatment, are lacking. Following delayed presentation beyond the period of accrual of peak bone mass, instituting HRT may not optimise bone mineral composition. Furthermore, the use of bisphosphonate in this patient is based on extrapolation of findings in subjects with postmenopausal osteoporosis. Prompt diagnosis and treatment in early childhood and prepuberty as well as continual active surveillance are important in managing the female patient with KS.