hypogonadotropic hypogonadism 13 with or without anosmia

Hypogonadotropic hypogonadism 13 with or without anosmia, also referred to as Kallmann syndrome (KS) and normosmic idiopathic hypogonadism (nIHH), is a disorder characterized by absent or incomplete sexual maturation by age 18, low levels of gonadotropins LH and FSH, and sometimes associated with anosmia (loss of smell).

Key Features:

• Absent or incomplete sexual maturation by age 18 [4]
• Low levels of gonadotropins LH and FSH [4][6]
• Sometimes associated with anosmia (loss of smell) [3][5]

Genetic Basis: Hypogonadotropic hypogonadism 13 with or without anosmia has been found to segregate in families, suggesting a genetic component. The disorder is sometimes referred to as "hypogonadotropic hypogonadism with or without anosmia (HH)" [3].

References:

• [4] Hypogonadotropic hypogonadism 13 with or without anosmia is a disorder characterized by absent or incomplete sexual maturation by age 18, low levels of gonadotropins LH and FSH.
• [6] Hypogonadotropic hypogonadism 7 with or without anosmia is a disorder characterized by absent or incomplete sexual maturation by age 18, low levels of gonadotropins LH and FSH.
• [3] Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).
• [5] A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in.

Hypogonadotropic hypogonadism 13 with or without anosmia (HH13) is a rare genetic disorder that affects the production of sex hormones. The signs and symptoms of HH13 can vary from person to person, but they often include:

• Delayed or absent puberty: People with HH13 may experience delayed or absent pubertal development, including poorly defined secondary sexual characteristics [6].
• Infertility: Infertility is a common feature of HH13, as the disorder affects the production of sex hormones necessary for fertility [4].
• Anosmia (loss of sense of smell): Many people with HH13 experience anosmia, which can range from mild to complete loss of the sense of smell [3].
• Other symptoms: Some individuals may also experience other symptoms such as cleft palate and hearing loss, although these are not universal [9].

It's essential to note that the severity and presentation of HH13 can vary significantly among affected individuals. If left untreated, people with HH13 may have poorly defined secondary sexual characteristics, show signs of hypogonadism, be infertile, and be at risk for other complications [8].

Available Diagnostic Tests for Hypogonadotropic Hypogonadism 13 with or without Anosmia

Hypogonadotropic hypogonadism 13 with or without anosmia is a disorder characterized by absent or incomplete sexual maturation by age 18, low levels of gonadotropins, and other related symptoms. Diagnostic tests for this condition are essential to confirm the diagnosis and rule out other potential causes.

Clinical Genetic Tests

• Clinical genetic tests, such as sequence analysis of the entire gene, can be used to diagnose hypogonadotropic hypogonadism 13 with or without anosmia [3].
• These tests can identify mutations in the genes associated with this condition, providing a definitive diagnosis [4].

Molecular Genetics Tests

• Molecular genetics tests, including sequence analysis of the entire gene, are also available for diagnosing hypogonadotropic hypogonadism 13 with or without anosmia [1].
• These tests can help identify genetic mutations that may be contributing to this condition.

Other Diagnostic Tests

• Other diagnostic tests, such as pituitary function tests and hormone level assessments, may also be used to diagnose hypogonadotropic hypogonadism 13 with or without anosmia [9].

It's worth noting that a panel of 14 genes has been curated for the genetic diagnosis of CHH within the NHS Genomic Medicine Service programme [6]. This highlights the importance of comprehensive genetic testing in diagnosing this condition.

References: [1] Available tests. 25 tests are in the database for this condition. [3] Hypogonadotropic hypogonadism 13 with or without anosmia is a disorder characterized by absent or incomplete sexual maturation by age 18

Treatment Options for Hypogonadotropic Hypogonadism (HH) with or without Anosmia

Hypogonadotropic hypogonadism, also known as Kallmann syndrome when associated with anosmia, is a treatable condition. The primary goal of treatment is to stimulate the production of sex hormones and induce puberty in affected individuals.

• GnRH Agonists: These medications can be used to stimulate the production of gonadotropins, which in turn stimulate the testes or ovaries to produce sex hormones.
• Hormone Replacement Therapy (HRT): HRT involves administering testosterone or estrogen supplements to affected individuals. This can help induce puberty and improve fertility.
• Gonadotropin Regimens: In some cases, gonadotropins such as human menopausal gonadotropin (hMG) may be used to stimulate the production of sex hormones.

Specific Treatment Methods

• Testosterone Replacement Therapy: This involves administering testosterone supplements to affected males. Testosterone can be administered via injections, slow-release skin patches, or gels.
• Estrogen and Progesterone Supplements: These medications may be used in females with hypogonadotropic hypogonadism to induce puberty and improve fertility.

Important Considerations

• Fertility Treatment: In some cases, fertility treatment may be necessary to induce pregnancy. This can involve the use of gonadotropins or other medications.
• Tumor Growth Concerns: Certain medications used to treat hypogonadotropic hypogonadism may stimulate tumor growth in androgen-dependent neoplasms.

References

• [10] Idiopathic congenital hypogonadism without anosmia is classified as idiopathic congenital hypogonadism. Over thirty gene mutations have been isolated as causative.
• [13] Note the presence of GnRH deficiency both with and without anosmia in the same family. Compatible paternity in two "fertile eunuchs" with congenital hypogonadotropic hypogonadism and anosmia (the Kallmann syndrome).
• [14] Treatment with these medications can stimulate tumor growth in androgen-dependent neoplasms.
• [15] Cases of congenital secondary hypogonadism without anosmia are classified as idiopathic congenital hypogonadism. Over thirty gene mutations have been isolated as causative.

Differential Diagnosis of Hypogonadotropic Hypogonadism (HH) with or without Anosmia

Hypogonadotropic hypogonadism (HH) is a condition characterized by low levels of sex hormones, leading to delayed or absent puberty. When HH is associated with anosmia (loss of smell), it is termed Kallmann syndrome. However, there are other conditions that can present with similar symptoms, making differential diagnosis crucial.

Conditions to Consider:

• Constitutional Delay of Growth and Puberty: This condition is a common cause of delayed puberty in boys, but it does not involve anosmia or hypogonadotropic hypogonadism. [3]
• Idiopathic Hypogonadotropic Hypogonadism (IHH): IHH is a rare condition that presents with low levels of sex hormones and can be associated with anosmia. However, it is often distinguished from Kallmann syndrome by the presence of affected relatives without anosmia. [5]
• Congenital Hypopituitarism: This condition involves underdevelopment of the pituitary gland, leading to hypogonadotropic hypogonadism and can be associated with other developmental abnormalities. [8]

Key Features to Distinguish:

• Anosmia: The presence or absence of anosmia is a critical feature in distinguishing Kallmann syndrome from other conditions.
• Family History: A family history of affected relatives without anosmia may suggest IHH rather than Kallmann syndrome.
• Other Developmental Abnormalities: Congenital hypopituitarism often presents with other developmental abnormalities, such as growth hormone deficiency or thyroid hormone deficiency.

References:

[3] LFG Silveira et al. (2013) - The main and most difficult differential diagnosis of congenital IHH in boys is constitutional delay of growth and puberty. [5] Subjects with gonadotropin deficiency and anosmia may have affected relatives without anosmia, thus demonstrating that the clinical features are variable. [8] T Raivio et al. (2007) - In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is classified as the Kallmann syndrome, whereas in the presence of a normal sense of smell, it is termed IHH.