Kallmann’s Syndrome: A Rare Cause of Primary Amenorrhoea

Abstract

Kallmann syndrome is a very rare hereditary disease. It is characterized by hypogonadotropic hypogonadism in association with anosmia ot hyposmia, both of which occur as a result of impairment of olfactory axon development and failure of migration of gonadotropin-releasing hormone (GnRH) neurons. Mode of inheritance can be autosomal dominant, autosomal recessive, or X-linked. We report a case of Kallmann syndrome in an 18 year old girl who presented with primary amenorrhoea, poor sexual development with poor sense of smell and colour blindness. Plasma levels of LH, FSH and oestradiol were very low. The patient's other pituitary hormone levels were normal. Chromosome analysis showed 46, XX karyotype. USG of lower abdomen confirmed presence of uterus and ovaries. MRI of brain showed olfactory bulbs to be present and there was no pituitary or hypothalamic lesion. We present this case for its very rare occurrence in the eastern part of the world and the typical feature being normal MRI brain with functional defect of the olfactory pathway. Treatment was started with cyclic conjugated oestrogen and progestin. Our patient is now on regular follow-up to monitor response to treatment.