What is the treatment for Kallmann syndrome and nihh?
Kallmann syndrome and nIHH are treated with hormone replacement therapy, with the specific medications and doses tailored to the patient’s needs. This treatment focuses first on inducing puberty and maintaining normal hormone levels. Later, the treatment may be changed to induce fertility.
What is Kallmann syndrome in women?
Kallmann syndrome in women: from genes to diagnosis and treatment Kallmann syndrome (KS) can be characterized as genetic disorder marked by hypogonadotropic hypogonadism and anosmia. Franz Jozef Kallmann was the first who described this disease in 1944.
What kind of Doctor do you see for Kallmann syndrome?
Patients with Kallmann syndrome require regular consultations with an endocrinologist, that is, a doctor who specializes in hormone-associated diseases. Other specialists may also be required in some circumstances, such as a cardiologist, neurologist or psychiatrist, depending on the other health conditions associated with it.
Can fertility be restored in women with Kallmann syndrome?
In most women and men with Kallmann syndrome, fertility can be restored. Almost all untreated people are infertile, but restoring fertility is possible in those who respond to treatment with pulsatile GnRH or gonadotropin therapy. Studies have found that in women with Kallmann syndrome, ovulation induction and pregnancy is not hard to achieve.
Can females have Kallmann syndrome?
Kallmann syndrome occurs more often in males than in females, with an estimated prevalence of 1 in 30,000 males and 1 in 120,000 females.
Is Kallmann syndrome reversible?
KALLMANN SYNDROME (KS) is defined as a congenital and irreversible form of hypogonadotropic hypogonadism (HH) in association with anosmia (1).
What is Kallmann syndrome?
Kallmann syndrome (KS) can be characterized as genetic disorder marked by hypogonadotropic hypogonadism and anosmia. Franz Jozef Kallmann was the first who described this disease in 1944. He suggested, that this disease has hereditary background. At present, six genes are regarded as causal genes of KS.
How many genes are causal in Kallmann syndrome?
He suggested, that this disease has hereditary background. At present, six genes are regarded as causal genes of …. Kallmann syndrome (KS) can be characterized as genetic disorder marked by hypogonadotropic hypogonadism and anosmia. Franz Jozef Kallmann was the first who described this disease in 1944. He suggested, that this disease has hereditary ...
What is the treatment for Kallmann syndrome?
There are various testosterone formulations available that may be used in the treatment of Kallmann syndrome, such as intramuscular injections, and topical patches, gels or liquids. The testosterone therapy usually continues even after puberty has been initiated, to maintain secondary sex characteristics and normal levels ...
How does Kallmann syndrome work?
The treatment of Kallmann syndrome typically involves hormone replacement therapy to normalize the sex hormone levels, so as to induce and maintain sexual development. Additional treatment may be required later in life if the individual wishes to start a family. Other factors, such as bone mineral density and the reduced sense of smell, ...
Can Kallman syndrome cause a loss of taste?
Loss or reduced sensitivity to smell, called anosmia, is evident in patients with Kallman syndrome. This can also affect the sense of taste, and may change the appetite of affected individuals. Anosmia can also be dangerous in some situations, as patients may be unable to detect odors such as rancid food, or smoke from a fire.
Can Kallmann syndrome be reversed?
Approximately 10-15% of male patients with Kallmann syndrome may be able to have their hypogonadism reversed. For this reason, testing should be conducted to investigate evidence of reversibility, which would have an impact on the treatment. Signs of reversal may include growth in testicular volume and normalized testosterone levels.
How is Kallmann syndrome treated?
Kallmann syndrome and nIHH are treated with hormone replacement therapy, with the specific medications and doses tailored to the patient’s needs. This treatment focuses first on inducing puberty and maintaining normal hormone levels. Later, the treatment may be changed to induce fertility.
What causes Kallmann syndrome?
Causes of Kallmann syndrome 1 Some must be inherited from both parents (autosomal recessive inheritance). In these types, both parents may be carriers, which means they have no symptoms of the disease. 2 Others can be inherited from either the mother or the father (autosomal dominant inheritance). 3 In other types, females are carriers and males have (express) the condition (X-linked inheritance). In these types, the condition can be passed from mothers to sons but not from fathers to sons. Either parent can pass the condition to a daughter as a carrier. 4 Researchers have more recently identified a fourth inheritance pattern in which mutations in more than one gene may combine to cause the condition (oligogenic inheritance).
What does a doctor ask about a child with delayed puberty?
Your doctor will usually begin with a physical exam and with questions about any symptoms you may have noticed , especially those having to do with delayed puberty and impairments to the sense of smell. Because this is an inherited condition, the doctor may also ask about relatives who have experienced delayed puberty or problems with fertility.
When is follow up needed for hormone supplementation?
Follow-up care. When medication is needed to supplement hormone production, periodic follow-up tests are needed to ensure that the treatment continues to work effectively. Dosage levels and the combination of medications may need to be adjusted over time.
Can Kallmann syndrome be passed to a daughter?
Either parent can pass the condition to a daughter as a carrier. Researchers have more recently identified a fourth inheritance pattern in which mutations in more than one gene may combine to cause the condition (oligogenic inheritance). Researchers are working to identify all of the genetic mutations associated with Kallmann syndrome and nIHH.
Is Kallmann syndrome autosomal recessive?
Some, but not all, of these have been identified and the inheritance patterns mapped. Different gene mutations causing Kallmann syndrome and nIHH have different inheritance patterns. Some must be inherited from both parents (autosomal recessive inheritance). In these types, both parents may be carriers, which means they have no symptoms ...
What is Kallmann syndrome?
Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism are genetic conditions. They are caused by mutations in any of several different genes. Some, but not all, of these have been identified and the inheritance patterns mapped.
How does Kallmann syndrome occur?
When Kallmann syndrome results from mutations in other genes, it often has an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from an affected mother or father. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
What is the main symptom of Kallmann syndrome?
The main symptom of Kallmann syndrome or normosmic idiopathic hypogonadotropic hypogonadism is delayed or incomplete puberty. In Kallmann syndrome, this is paired with an impaired sense of smell, a condition present from birth but often not brought to a doctor’s attention until asked about it in the course of diagnosing the cause of delayed puberty.
What percentage of Kallmann syndrome is caused by mutations?
Together, mutations in known genes account for about 30 percent of all cases of Kallmann syndrome. In cases without a mutation in one of the identified genes, the cause of the condition is unknown. Researchers are looking for additional genetic changes that can cause this disorder.
How many people have Kallmann syndrome?
Kallmann syndrome occurs more often in males than in females, with an estimated prevalence of 1 in 30,000 males and 1 in 120,000 females 2).
Is Kallmann syndrome autosomal recessive?
Kallmann syndrome due to mutations in PROKR2 and PROK2 can also be inherited in an autosomal recessive manner 9).
Does Kallmann syndrome affect the sense of smell?
In Kallmann syndrome, the sense of smell is either diminished (hyposmia) or completely absent (anosmia). This feature distinguishes Kallmann syndrome from most other forms of hypogonadotropic hypogonadism, which do not affect the sense of smell. Many people with Kallmann syndrome are not aware that they are unable to detect odors until the impairment is discovered through testing.
Who was the first person to describe the Kallmann syndrome?
The German psychiatrist Franz Josef Kallmann (1897-1965) described and characterized this genetic disorder as a hereditary condition under the name Kallmann Syndrome (KS).
How many people have Kallmann syndrome?
The prevalence of Kallmann Syndrome is 1 out of 8,000 males, and 1 out of 40,000 females.
What happens to a man with KS after puberty?
After puberty, when the person reaches adulthood, men affected by KS will have a phenotype that is related to hypogonadism, along with a lack of testosterone:
Why is hormonal replacement therapy important?
To this end, a hormonal replacement therapy is essential to be able to develop and maintain the secondary sexual characteristics. As for males, some examples are: body hair growth, deeper voice, muscle and bone development... In the case of women, the goal is to promote breast growth, have normal menstrual periods, pubic hair, etc.
When a person that suffers from KS wants to have children, should hormone treatment be changed in order for fertility?
When a person that suffers from KS wants to have children, hormone treatment should be changed in order for fertility to be restored. What follows are some recommended treatments based on gender:
Is Kallman syndrome genetic?
The cause of Kallman syndrome is genetic, with different genes involved. Therefore, there is no cure as such. Treatment consists of exogenously giving the body the hormones it needs for proper pubertal development. In women estrogens are administered and in men testosterone, in both cases they will be maintained indefinitely.
How to diagnose Kallmann syndrome?
Analysis of the olfactory bulbs by MRI can be useful, especially in young children. Genetic testing can also be used to diagnose the condition by identifying a disease-causing mutation in one of the genes responsible for Kallmann syndrome. [1]
What is Kallmann syndrome?
Listen. Kallmann syndrome (KS) is a condition that causes hypogonadotropic hypogonadism (HH) and an impaired sense of smell. HH affects the production of the hormones needed for sexual development. It is present from birth and is due to deficiency of gonadotropin-releasing hormone (GnRH). KS is often diagnosed at puberty due to lack ...
What to do if you can't find a specialist?
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
Why is KS diagnosed?
KS is often diagnosed at puberty due to lack of sexual development. It may first be suspected in infancy in males with undescended testicles or a small penis. Symptoms in untreated, adult males may include decreased bone density and muscle mass; small testicles; erectile dysfunction; low sex drive; and infertility.
Is Kallmann syndrome life threatening?
Kallmann syndrome (KS) is not a life-threatening condition. The main features are delayed or absent signs of puberty, and absent or diminished sense of smell (anosmia or hyposmia, respectively). Males with KS may have signs of the condition at birth, such as undescended testes or a smaller than average penis.
Can a woman with KS have a period?
Untreated adult females with KS usually do not have menstrual periods (amenorrhea) and normal, little, or no breast development. Rarely, a person with KS will have failure of kidney development (renal agenesis); hearing impairment; cleft lip or palate; and/or dental abnormalities.
Can Kallmann syndrome cause fertility?
Fertility can be achieved in most cases. [1] [2] When the features of Kallmann syndrome are not accompanied by impaired sense of smell, the condition is referred to as idiopathic or isolated hypogonadotropic hypogonadism, or normosmic isolated GnRH deficiency (IGD). Last updated: 6/22/2016.
How does Kallmann syndrome occur?
When Kallmann syndrome results from mutations in other genes, it often has an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from an affected mother or father. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
What mutations cause Kallmann syndrome?
Most of the time, people with Kallmann syndrome resulting from an ANOS1 gene mutation inherit the mutation from their mothers, who carry a single altered copy of the gene in each cell (and generally do not have any signs or symptoms of the condition). Other people have Kallmann syndrome as a result of a new mutation in the ANOS1 gene.
What percentage of Kallmann syndrome is genetic?
Together, mutations in known genes account for about 30 percent of all cases of Kallmann syndrome.
How many people have Kallmann syndrome?
Kallmann syndrome occurs more often in males than in females, with an estimated prevalence of 1 in 30,000 males and 1 in 120,000 females.
Does Kallmann syndrome affect the sense of smell?
This feature distinguishes Kallmann syndrome from most other forms of hypogonadotropic hypogonadism, which do not affect the sense of smell. Many people with Kallmann syndrome are not aware that they are unable to detect odors until ...
Does Kallmann syndrome cause the brain to develop?
Additionally, researchers have identified mutations in other genes that may contribute to the development and features of Kallmann syndrome, but are unlikely to cause the disease on their own. The genes associated with Kallmann syndrome play roles in the development of certain areas of the brain before birth.
Can Kallmann's syndrome cause odors?
Many people with Kallmann syndrome are not aware that they are unable to detect odors until the impairment is discovered through testing. Kallmann syndrome can have a wide variety of additional signs and symptoms.
What is Kallmann Syndrome (KS) or Maestre-Kallmann-Morsier Syndrome?
It is a genetic disease that causes hypogonadism-hypogonadotropic and lack of smell. It has different inheritance types: X-linked, autosomal dominant and recessive.
What causes Kallmann syndrome?
KS is caused by mutations in several genes including: KAL1, FGFR1, FGF8, FGF8, CHD7, SOX10, PROKR2 and PROK2. Mutations in these genes cause problems in the development of the olfactory system and also a disrupted embryonic migration of GnRH-synthesising neurons from the olfactory epithelium to the hypothalamic region of the brain.
What are the symptoms of Kallmann syndrome?
Common symptoms to both sexes are absence of spontaneous puberty and total or partial loss of smell. Less common symptoms include unilateral renal agenesis, hearing deficit, cleft lip or palate, dental agenesis or involuntary movements that persist beyond infancy.
How can we diagnose Kallmann syndrome?
Many cases are diagnosed at puberty due to lack of sexual development.
Can a person with Kallmann syndrome have children?
The use of exogenous hormones can activate gametogenesis and therefore fertility in patients with Kallmann syndrome. However, given that it is a genetic disease, the use of pre-implantation genetic diagnosis techniques is also highly recommended in cases where the transmission of the disease to the next generation is to be avoided.
