The Kallmann syndrome (KS) is a rare condition characterized by delayed or absence of puberty and distorted sense of smell. The condition is a result of the lack of production of certain hormones responsible for sexual development. Males with the condition do not exhibit secondary sex characteristics during puberty, such as facial hair or a deeper voice. They also usually have small penises known as micropenis. In females, the development of breasts and other physical changes do not occur. Some may not experience menstruation. The condition affects more male than females. KS is a genetic condition that, without treatment, can result in serious implications such as the inability to have biological children.
The primary sign and symptoms of KS are incomplete or delayed puberty. In some cases, it is difficult to ascertain a case of KS from a short delay in puberty. That is because puberty occurs at different stages in different between the two sexes. However, Stamou and Georgopoulos (2018) advise that if puberty does not begin by 15 and 14 years in boys and girls, respectively, it is a cause of concern. At this age, an average person should start exhibiting observable changes in non-reproductive features. KS's symptoms include the small penis, undescended testicles, primary amenorrhea, and poorly defined secondary sexual characteristics as reproductive features (Stamou & Georgopoulos, 2018). Non-reproductive features include lack of smell, hearing loss, missing teeth, eye defects, and poor balance.
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KS is essentially a genetic condition caused by genetic mutations. So far, scientists like Kotan et al. (2014) implicate 25 different genes in causing the condition by disrupting the process of producing GnRH (37) and its activity. Researchers have identified most of these genes and mapped out their inheritance patterns. As Seminara (2020) demonstrates, the first inheritance pattern is where it must be inherited from both parents who are carriers and lack symptoms of the disease. The second pattern is where the condition can be inherited from either of the parents. Either a mother or father can pass down the condition to their child.
Thirdly, females can be carriers, and males have the condition. It is known as the X-linked inheritance where the only mother can pass the disease to son (a father cannot pass it down to son) with either of the parents passing it to a daughter (Kato et al., 2014). This is a quite complicated and extremely rare inheritance pattern where a mother is a carrier, and, on the other hand, a father has the condition. Lastly, mutations on more than one gene may combine to cause KS. Kato et al. (2014) refer to the pattern as an oligogenic inheritance. It is also a rare form of causation of the condition. Scientists are still working on the disease, especially on genetic mutation, due to the condition.
Upon detecting signs and symptoms, a doctor will begin physical examination and later progress to additional tests. They will begin with a comprehensive physical exam accompanied by objective questions about any of the symptoms a patient may have experienced (Salenave et al., 2008). These questions aim to determine whether a patient may have noticed delayed puberty and various impairments, including smell. Being a genetic condition, an endocrinologist will also inquire about relatives who may have experienced the condition (Manara et al., 2014). Suppose the results do not ascertain the condition. In that case, additional tests may be carried out, including blood tests to check for certain hormone levels, MRI of the hypothalamus and pituitary gland, and molecular genetic testing for gene mutations.
KS’s treatment plan involves specific medications and hormone replacement therapy. Different patients report different characteristics of KS, implying that patients' needs differ between the two sexes. However, the treatment aims to induce puberty and maintain a normal level of hormones. Depending on the severity of the condition, additional treatment may be administered later to induce fertility. Hormone replacement therapy (HRT)focuses on replacing the missing hormones—testosterone, estrogen, or progesterone (Salenave et al., 2008). These hormones are administered in the forms of capsules, gel, or patches daily and monitored over a significant period until puberty begins. Doctors advise treatment at early stages to prevent the psychological implications of the condition.
If untreated, KS can result in serious complications even though it is not a life-threatening disease. Where puberty does not occur, an individual may develop serious psychological disorders such as clinical depression. Males with the condition have a small penis. This may cause a feeling of shame and poor self-worth (Manara et al., 2014). Lack of confidence may drive certain people into depression. Also, the disease may cause infertility in some individuals. Affected persons may not have biological children unless the condition is treated successfully. The idea of not being able to sire biological children can also damage some people on an emotional and psychological level (Manara et al., 2014). The non-reproductive symptoms of the condition, such as an impaired sense of smell, sight, and hearing, can also alter an individual's everyday life.
Kallmann Syndrome is an uncommon and noncritical genetic condition that can manifest into serious problems. A small percentage of people suffer from the condition mainly because genetic conditions and conditions for inheritance are also uncommon. It results from an imbalance of hormones—testosterone in males and estrogen and progesterone in females—on puberty due to unresponsiveness of the hypothalamus gland. Therefore, its treatment involves reversing the condition by ensuring the injection of the hormone's desired level in a patient's body until they start exhibiting puberty traits. It is important to treat the condition to avoid further complications.
References
Kotan, L. D., Hutchins, B. I., Ozkan, Y., Demirel, F., Stoner, H., Cheng, P. J., ... & Yuksel, B. (2014). Mutations in FEZF1 cause Kallmann syndrome. The American Journal of Human Genetics , 95 (3), 326-331.
Manara, R., Salvalaggio, A., Favaro, A., Palumbo, V., Citton, V., Elefante, A., ... & Kallmann Syndrome Neuroradiological Study Group. (2014). Brain changes in Kallmann syndrome. American Journal of Neuroradiology , 35 (9), 1700-1706.
Salenave, S., Chanson, P., Bry, H., Pugeat, M., Cabrol, S., Carel, J. C., ... & Dodé, C. (2008). Kallmann’s syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations. The Journal of Clinical Endocrinology & Metabolism , 93 (3), 758-763.
Seminara, S. (2020). Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders - Full Text View - ClinicalTrials.gov . Clinicaltrials.gov. Retrieved 22 October 2020, from https://clinicaltrials.gov/ct2/show/NCT00494169 .
Stamou, M. I., & Georgopoulos, N. A. (2018). Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism. Metabolism , 86 , 124-134.
