hypogonadotropic hypogonadism 12 with or without anosmia

Hypogonadotropic Hypogonadism 12 with or Without Anosmia: A Description

Hypogonadotropic hypogonadism 12 with or without anosmia is a rare genetic disorder characterized by absent or incomplete sexual maturation by age 18, low levels of sex hormones, and in some cases, an impaired sense of smell (anosmia) [4]. This condition results from a lack of production of certain hormones that regulate the reproductive system, leading to delayed or incomplete puberty [5].

The symptoms of hypogonadotropic hypogonadism 12 with or without anosmia may include:

• Absent or incomplete sexual maturation by age 18
• Low levels of sex hormones (LH and FSH)
• Impaired sense of smell (anosmia) in some cases
• Delayed or incomplete puberty

This disorder is often inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [8]. The genetic basis of hypogonadotropic hypogonadism 12 with or without anosmia involves mutations in the GNRH1 gene on chromosome 8p21 [9].

It's essential to note that this description is based on the available information and may not be comprehensive. If you're looking for more detailed information, I can try to provide it.

References:

[4] Context result 4 [5] Context result 5 [8] Context result 8 [9] Context result 9

Hypogonadotropic hypogonadism 12 with or without anosmia (HH12) is a form of hypogonadotropic hypogonadism, which is characterized by the underproduction of sex hormones due to a lack of stimulation from gonadotropin-releasing hormone (GnRH).

Clinical Features:

• Decreased circulating gonadotropin concentration [1]
• Decreased serum estradiol and testosterone concentrations [1][6]
• Delayed or absent puberty [2][4]

Specific Symptoms:

• In males, symptoms may include:
  • Lack of energy
  • Decreased sexual function
  • Delayed or absent puberty
• In females, symptoms may include:
  • Delayed or absent puberty
  • Infertility

Additional Features:

• Anosmia (loss of sense of smell) is a common feature in individuals with HH12 [3][8]
• The main clinical features consist of the absence of complete spontaneous puberty and a partial or total impairment of the sense of smell (anosmia) in both males and females [8]

References:

[1] Decreased circulating gonadotropin concentration is a key feature of hypogonadotropic hypogonadism 12 with or without anosmia (HH12). [Context #1] [2] Kallmann syndrome, which includes HH12, is characterized by delayed or absent puberty and a loss of sense of smell. [Context #2] [3] In Kallmann syndrome, the sense of smell is either diminished (hyposmia) or completely absent (anosmia). [Context #3] [4] Hypogonadotropic hypogonadism-12 with or without anosmia (HH12) is caused by homozygous mutations in the KAL1 gene. [Context #5] [6] In females with hypogonadism before puberty, symptoms may include delayed or absent puberty and infertility. [Context #6] [7] Hypogonadotropic hypogonadism-12 with or without anosmia (HH12) is caused by homozygous mutations in the KAL1 gene. [Context #7] [8] The main clinical features consist of the absence of complete spontaneous puberty and a partial or total impairment of the sense of smell (anosmia) in both males and females. [Context #8]

Note: The references provided are based on the context information, which is not publicly available. However, I have tried to provide accurate and relevant information based on the context.

Diagnostic Tests for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

Hypogonadotropic hypogonadism 12 with or without anosmia is a disorder characterized by absent or incomplete sexual maturation, low levels of gonadotropins and testosterone, and no other hypothalamic-pituitary axis abnormalities. To diagnose this condition, several tests can be performed.

• Genetic testing: Genetic mutations, also known as pathogenic variants, are the cause of hypogonadotropic hypogonadism 12 with or without anosmia. Genetic testing can identify these mutations and confirm the diagnosis [1].
• Clinical trials: Clinical trials can determine if a new test or treatment for hypogonadotropic hypogonadism 12 with or without anosmia is effective and safe by comparing it to existing treatments [10].
• Morning total testosterone measurement: Measuring morning total testosterone levels can help diagnose hypogonadotropic hypogonadism, as low levels of testosterone are a characteristic of this condition [12].
• Gonadotropin-releasing hormone (GNRH) stimulation test: This test measures the response of gonadotropins to GNRH stimulation. A normal response is expected in individuals with normal hypothalamic-pituitary-gonadal axis function, while a blunted or absent response may indicate hypogonadotropic hypogonadism [3].
• Imaging studies: Imaging studies such as MRI and CT scans can help identify any structural abnormalities in the hypothalamus, pituitary gland, or gonads that may be contributing to the condition.

It's essential to note that a diagnosis of hypogonadotropic hypogonadism 12 with or without anosmia should only be made by a qualified healthcare professional after a thorough evaluation and diagnostic testing. The diagnostic team may include providers with advanced medical training in different body systems or types of diseases, which can help provide the correct diagnosis sooner [11].

References:

[1] Context result 8 [3] Context result 3 [10] Context result 10 [12] Context result 12

Hypogonadotropic hypogonadism (HH) with or without anosmia, also known as Kallmann syndrome, is a rare genetic disorder that affects the production of sex hormones. The condition is characterized by delayed or absent puberty and an impaired sense of smell.

Treatment Options:

• Gonadotropin therapy: This involves administering medications such as human menopausal gonadotropin (hMG) to stimulate the production of sex hormones.
• Hormone replacement therapy (HRT): HRT can be used to replace the deficient hormones and promote puberty in individuals with HH.
• Fertility treatments: In some cases, fertility treatments such as in vitro fertilization (IVF) may be necessary for individuals with HH who wish to conceive.

Medications Used:

• Human menopausal gonadotropin (hMG): This medication is used to stimulate the production of sex hormones and promote puberty.
• Gonadotropin-releasing hormone (GnRH) analogs: These medications can be used to stimulate the production of sex hormones in individuals with HH.

Important Considerations:

• Tumor growth risk: Certain medications used to treat HH, such as hMG, may stimulate tumor growth in androgen-dependent neoplasms.
• Fertility implications: Individuals with HH who undergo fertility treatments should be aware that these procedures can have implications for their fertility and reproductive health.

References:

• [10] Note the presence of GnRH deficiency both with and without anosmia in the same family.
• [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 [16].

The differential diagnosis of hypogonadotropic hypogonadism (HH) 12 with or without anosmia involves a range of conditions that can present with similar symptoms. Here are some key points to consider:

• Constitutional delay of puberty: This is the most common cause of delayed puberty, and it should be ruled out before considering HH as a diagnosis [4].
• 5-alpha-reductase deficiency: This is a rare genetic disorder that affects the production of testosterone, leading to symptoms similar to those seen in HH [13].
• Kallmann syndrome: This is a genetic disorder characterized by hypogonadotropic hypogonadism and anosmia. It can be caused by mutations in several genes, including GNRH1 [3, 7].
• GnRH deficiency: Both with and without anosmia, GnRH deficiency can present as HH, making it essential to consider this condition in the differential diagnosis [11].
• Structural, functional, and genetic abnormalities: The hypothalamic-pituitary-gonadal axis can be affected by various abnormalities, leading to symptoms of HH. It is crucial to investigate these potential causes in the differential diagnosis [1].

In terms of diagnostic tests, it's essential to consider the following:

• Genetic testing: Hypogonadal patients interested in fertility should be offered genetic testing to identify potential underlying causes of their condition [13].
• PSA levels: Determining PSA levels annually in older men receiving testosterone therapy can help monitor for potential complications [12].

It's also important to note that the differential diagnosis of male hypogonadism includes a large and diverse group of disorders affecting the testicles directly or affecting hypothalamic-pituitary regulation of the testes [12].