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.
Highlights
Kallmann Syndrome (KS) is a form of hypogonadotropic hypogonadism characterized by delayed or absent puberty and an impaired sense of smell [1,2,3,4,5]
The association of hypogonadism and anosmia was first described by Maestre de San Juan, a Spanish anatomist, in 1856
Later in 1944, a German-American geneticist, Franz Joseph Kallmann, recognized the genetic basis of this condition in three families, and thereafter this association has been known as Kallmann syndrome [8]
Summary
Kallmann Syndrome (KS) is a form of hypogonadotropic hypogonadism characterized by delayed or absent puberty and an impaired sense of smell [1,2,3,4,5]. Either anosmia or severe hyposmia is present in these patients and this feature distinguishes Kallmann syndrome from most other forms of hypogonadotropic hypogonadism [1,4,6,7]. Of 59 Kallmann syndrome patients analyzed by Oliveira et al [21] were familial and 38 were sporadic cases [17].
Sign-in/Register to view highlights & summary 
Published Version (
Free)
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call