Kallmann’s Syndrome

Topics: Menstrual cycle, Puberty, Kallmann syndrome Pages: 13 (4082 words) Published: February 27, 2013
Kallmann's Syndrome


Kallmann’s syndrome is a rare disorder which affects predominantly man. Typical characteristics are a failure to go through puberty and an absent sense of smell. Although the disease is not life threatening, somebody with kallmann’s syndrome has an hormonal imbalance hypogonadotropic hypogonadism due to GnRH deficiency because a small area of his or her brain called the hypothalamus is unable to work properly. Specialised hormone replacement therapy is available to treat absent puberty.

A case of 23 year old female presented with primary amenorrhea, poor pubertal development and with absent sense of smell. She was overweight, her breast development was Tanner stage 2, pubic and axillary hair Tanner stage 3 with normal external genitalia . laboratory work up done which revealed low normal LH and FSH as well as estradiol, serum cortisol, and testosterone level. Prolactin was slightly elevated. TSH and FT4 were also normal as well as OGTT, electrolytes, and hematology results. SGPT revealed to be elevated an ultrasound of liver revealed fatty liver. Patient had 46 XX karyotype. Pelvic ultrasound revealed small atrophic uterus and atrophic ovaries. Cranial CT scan shows negative CT scan of the sellar region and brain, non specific tentorial calcification. MRI of the head revealed essentially normal MRI of the brain, polysinusitis with retention cyst in the right maxilla

Hormonal replacement therapy was started in order to improve breast size and commencement of regular menstrual cycle. After 2 packs of low dose estradiol (ethinylestradiol) patient had her first onset of menstruation for 9 days consuming 1 pad per day and a little improvement of her breast size.


Kallmann’s syndrome; hypogonadotropic hypogonadism; hormonal replacement therapy


Kallmann Syndrome refers to the association of congenital hypogonadotropic hypogonadism with anosmia or hyposmia.¹ The syndrome is also referred as olfactogenital dysplasia. Idiopathic hypogonadotropic hypogonadism is a broader term used to describe patients with unexplained isolated gonadotropin deficiency associated or not with anosmia. Even individuals within an affected family can express both isolated gonadotropin deficiency and anosmia, whereas others express isolated gonadotropin deficiency and a normal sense of smell.

Kallmann's Syndrome is a heterogeneous genetic disorder affecting 1 in 10.000 to 60.000 individuals. Males predominate in a ratio of 5:1. The syndrome can occur as an inherited or sporadic disorder. X-linked, autosomal dominant, and autosomal recessive modes of inheritance have been described. The sporadic cases exhibit similar clinical features of the classic inherited disorder.² Even in the autosomal dominant transmission, males are still more commonly affected. Regardless of the inheritance pattern, incomplete expression of the known features of the syndrome is commonly noted, because there is a variability in the penetrance of the gene.

Presenting a rare case of a 23 year old female with primary amenorrhea and anosmia with primary consideration of Kallmann’s syndrome.


M.M. a 23 year old female, came to our institution for primary amenorrhea and lack of secondary sexual characteristics (breast and pubic hair development). The patient was born full term to a G6P6 mother with no perinatal complications. Her parents did not notice any developmental delay, and she was able to go to school until third year high school however with academic difficulty since patient was having difficulty reading. Patient has no sense of smell since childhood however she was able to appreciate the taste of the food. Past medical history was unremarkable.

When she was 16 years old , her family became concerned about her primary amenorrhea. There was concomitant delayed breast and pubic development with no other associated signs and...

References: 1. Christensen RB, Idiopathic Hypogonadotropic Hypogonadism with Anosmia, The Endocrinologist, 332-340, Volume 2, number 5, 1992
3. Legouis R, Isolation and characterization of the gene responsible for the X chromosome-linked Kallmann syndrome, Biomed Pharmacother, 48: 5-6, 1994, 241-6
World Neurology, Minneapolis, 1962, 3: 485-506.
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