Kallmann syndrome is a condition where the puberty level is altogether absent or delayed in some cases . In the life cycles/second of human beings , pubescence is one of the most important stages as it is the stage of growth spurt in both boys and missy . In this article , we discuss about Kallmann syndrome in detail .
What is Kallmann Syndrome?
There would be many significant changes in the physical and genial growth in this period as a upshot of many physiological and hormonal change . Growth of secondary sexual characters is seen in this syndrome . A boy becomes a man and a miss a adult female in this stage . All these change are due to changes in the hormone which are produced from their gonads . In males , testosterones are creditworthy for the change in puberty whereas in female , oestrogen and Lipo-Lutin are produced .
In person if these hormones which convey about sexual exploitation are lack , they suffer from a condition know as hypogonadism . Kallmann syndrome is also known as hypogonadotropic hypogonadism . This syndrome is constitute after a geneticist Franz Josef Kallmann who publish about Kallmann Syndrome in a composition .
Signs and Symptoms of Kallmann Syndrome
As the sexual practice endocrine in males and female differ , the presentation also differs accordingly . Some of the main sign and symptom of Kallmann syndrome .
In males , hypogonadotropic hypogonadism is symptomized by .
In general , there are some sign and symptom of Kallmann syndrome show irrespective of grammatical gender . Some of them are .
Kallmann syndrome can be make out from other hypogonadotropic hypogonadism disorders with the presence or absence of sense of spirit . In other anatomy of hypogonadism , sense of smell is not affected . In fact , the individuals suffering from Kallmann disorder do not know that they have impaired sense of smell until it is confirmed through testing by the professionals . In caseful of bimanual synkinesis , both the hands are not capable to do the work independently . Movement of one hand would be mirrored by the other hand . In such case , the someone are unable to move both the hands severally . So it is hard for them to ask in activeness like playing musical instruments , typing , etc .
Causes for Kallmann Syndrome
One of the principal cause of Kallmann syndrome is the lack of sexual endocrine . In male person and females , want of testosterones and estrogen respectively stimulate this syndrome . inadequacy in production of Gonadotropin Releasing Hormone is main crusade of this syndrome .
Kallmann syndrome is a genetic disorder where there might be mutant in one or more genes such as ANOS1 , CHD7 , FGF8 , FGFR1 , PROK2 , and PROKR2 . From researches , it is found that the cistron responsible for migration of neurons which produces gonadotropin - releasing endocrine is also imply in the migration of neuron from developing nose to head-on lobe of brain . Gonadotropin releasing internal secretion ( GnRH ) controls the production of hormones in males and female person at pubescence . So it is creditworthy for normal functioning of gonads . At the same metre since the same genes are creditworthy for migration of nerve cell related to olfactory lobe , sentience of olfactory sensation is also impaired . From the enquiry , it is found that this is the independent understanding why the patient role with Kallmann syndrome lack in petty intimate characters and turn a loss common sense of smell .
How is Kallmann Syndrome Inherited?
Let us appear at the way in which Kallmann syndrome is inherited . ANOS1 is fix on X- chromosome . Males have one copy of 10 - chromosome . The disease is passed on to the daughter if the don has mutated gene of ANOS1 since it is decade - chromosome link . Father can not perish the disease to the son . In case of mother who have 2 copy of X – chromosome , if one copy of X – chromosome has mutated ANOS1 gene , the prospect of passing to the daughter is 50 % . This is because ; ANOS1 is a tenner - lined recessionary cistron . Hence there may be crisscross inheritance .
An autosomal dominant heritage practice is the cause in some mortal if mutation occurs in other genes . In such cases , each cell has one copy of mutate factor .
In many grammatical case , this syndrome exhibits autosomal recessive pattern of hereditary pattern . Here , the disease is perish on to the next genesis if both the copies of gene are mutated in each electric cell .
In some cases , the individuals do not have any family history and the unexampled mutations can fall out .
Diagnosis of Kallmann Syndrome
The diagnosis of Kallmann syndrome can be corroborate by direct many examination , which let in the following ,
Clinical Examination for Kallmann Syndrome . This valuation is done on different factors like summit , pubic hair development in male and female , sizing of sex gland , breast development at menarche , fit signified of smell , pigmentation of tegument and whisker , neurodevelopment . After conducting relevant examinations , the values are compare with the standard values for evaluation . This is an crucial part of the diagnosis of Kallmann syndrome .
Laboratory Tests to Diagnose Kallmann Syndrome . In laboratory , some tests are bear for ratification of this disease . FSH , LH , testosterone , estrogen and prolactin hormones are examine which is done early in the morning . GnRH floor is confirmed to bonk the operational stage of hypothalamus and pituitary . spermatozoan is tested for confirmation of infertility . Bone concentration is checked to know about the lack or excess deposition of calcium .
Imaging Tests . Scanning of kidney to confirm the presence of both the kidneys ( to confirm whether the affected role has renal agenesia ) , MRI of brain to get to lie with the abnormality of brain if there is any , X - light beam to find out the bone eld , etc . , are done in medical mental imagery .
Treatment of Kallmann Syndrome
The syndrome is observed in both Male and females at pubescence . There are several intervention to develop the secondary sexual characters . The treatment of Kallmann syndrome includes
Fertility is induced by GnRH pulsatile therapy . In males it is helpful to increase the production of sperm . In face of undescended testes , other medicine like intracytoplasmic sperm injection may be tried as there will be hold in yield of sperms . In female , GnRH pulsatile therapy chiefly deal the induction of ovulation . Sometimes , medications may be expect to trigger the growing and release of testis in females to facilitate raw conception .
As such there is no treatment for meliorate the good sense of olfaction , mirror movements of hand and absence seizure of one kidney .
For some cases , renewal therapies , in gain to the main treatment of Kallmann syndrome can serve and is better decided by the treat medico .
Prognosis of Kallmann Syndrome
well-timed treatment brings successful result in people suffering from Kallmann syndrome . Records evidence us that there are a very few lawsuit where the reversal of symptoms are reported that is 10 % to 20 % . Also , the reversal is found to be temporary .
Epidemiology of Kallmann Syndrome
Kallmann syndrome is most unremarkably found in males than in female person . The disease is about 2.5 times more in males if there is a family history .
Conclusion
Kallmann syndrome is related to mutation in genes , especially which is located on XTC - chromosome . This syndrome can be observed in both males and female at the historic period of puberty . The syndrome is detected by clinical exam of the characteristic of boys and girls at pubescence and diagnosis of Kallmann syndrome is made by confirmed laboratory test . discussion well in time helps multitude to avoid sterility , thus help reproduce in a natural process and lead a healthy life though sense of smell and mirror movement of hands can not be treat at present .
