Kallmann’s Syndrome
Kallmann 's Syndrome
ABSTRACT
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.
KEYWORDS
Kallmann’s syndrome; hypogonadotropic hypogonadism; hormonal replacement therapy
INTRODUCTION
Kallmann Syndrome refers to the association of congenital hypogonadotropic hypogonadism with anosmia or hyposmia.¹ The
ABSTRACT
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.
KEYWORDS
Kallmann’s syndrome; hypogonadotropic hypogonadism; hormonal replacement therapy
INTRODUCTION
Kallmann Syndrome refers to the association of congenital hypogonadotropic hypogonadism with anosmia or hyposmia.¹ The
References: 1. Christensen RB, Idiopathic Hypogonadotropic Hypogonadism with Anosmia, The Endocrinologist, 332-340, Volume 2, number 5, 1992 2 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 4 World Neurology, Minneapolis, 1962, 3: 485-506.