hypogonadotropic hypogonadism 18 with or without anosmia

Hypogonadotropic Hypogonadism 18 with or Without Anosmia: A Disorder Characterized by Absent or Incomplete Sexual Maturation

Hypogonadotropic hypogonadism 18 with or without anosmia is a disorder characterized by absent or incomplete sexual maturation by age 18, low levels of circulating gonadotropins, and in some cases, anosmia (loss of smell) [5][8]. This condition is also known as isolated gonadotropin-releasing hormone deficiency (IGD) [1][2].

Key Features:

• Absent or incomplete sexual maturation by age 18
• Low levels of circulating gonadotropins (LH and FSH)
• In some cases, anosmia (loss of smell)

Causes: The exact cause of hypogonadotropic hypogonadism 18 with or without anosmia is not fully understood. However, it is believed to be related to a mutation in the IL17RD gene on chromosome 3p14 [9].

Symptoms:

• Delayed or absent puberty
• Low sex drive
• Infertility
• Anosmia (loss of smell) in some cases

It's worth noting that hypogonadotropic hypogonadism 18 with or without anosmia is a rare condition, and more research is needed to fully understand its causes and symptoms.

References: [1] Context result 1: Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH ... [2] Context result 2: Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH ... [5] Context result 5: Hypogonadotropic hypogonadism 18 with or without anosmia is a disorder characterized by absent or incomplete sexual maturation by age 18, low levels of ... [8] Context result 8: Hypogonadotropic hypogonadism 1 with or without anosmia is a disorder characterized by absent or incomplete sexual maturation by age 18, low levels of ... [9] Context result 9: Definition: A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes ...

Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) is a rare genetic disorder that affects the production of sex hormones. The main clinical features of this condition include:

• Delayed or absent puberty: Individuals with HH18 may experience delayed or absent pubertal development, including the absence of breast tissue in females and testicular enlargement in males [6].
• Partial or total impairment of the sense of smell (anosmia): A significant number of individuals with HH18 experience a loss of their sense of smell, which can range from mild to complete anosmia [4][5].
• Additional signs and symptoms: Some people with HH18 may also experience additional signs and symptoms, such as:
  • Failure of one kidney to develop (unilateral renal agenesis) [1]
  • Erectile dysfunction
  • Infertility
  • Decrease in hair growth on the face and body
  • Decrease in muscle mass
  • Development of breast tissue (gynecomastia)
  • Loss of libido [2][3]

It's essential to note that not everyone with HH18 will experience all of these symptoms, and the severity can vary from person to person. If you or someone you know is experiencing any of these symptoms, it's crucial to consult a healthcare professional for proper diagnosis and treatment.

References: [1] Context result 3 [2] Context result 2 [3] Context result 2 [4] Context result 4 [5] Context result 5 [6] Context result 6

To diagnose hypogonadotropic hypogonadism 18 with or without anosmia, several diagnostic tests can be performed.

• Hormone evaluation: This involves measuring the levels of sex steroids and gonadal peptides in the blood. Specifically, the measurement of morning total testosterone by a sensitive assay is recommended [10].
• Pituitary gonadotropin dosage: This test measures the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) in the blood to determine if they are within normal ranges.
• Evaluation of the sense of smell: Since around 50–60% of affected individuals exhibit anosmia or hyposmia, this test can help confirm the diagnosis [11].
• Genetic testing: Genetic testing for mutations in the IL17RD gene can be performed to identify individuals with hypogonadotropic hypogonadism due to a defect in gonadotropin-releasing hormone (GNRH) release or action.

These diagnostic tests can help confirm the diagnosis of hypogonadotropic hypogonadism 18 with or without anosmia and rule out other potential causes of hypogonadism.

Based on the search results, it appears that drug treatment for hypogonadotropic hypogonadism (HH) with or without anosmia involves the use of gonadotropins.

• Gonadotropin-releasing hormone (GnRH) therapy has been shown to be effective in restoring LH and testosterone secretion in most cases, suggesting a hypothalamic basis for the condition [8].
• Pulsatile GnRH therapy is an alternative treatment option for men with hypogonadotropic hypogonadism who desire fertility, involving administration of pulsatile LHRH or injections of hCG and FSH [7].
• Gonadotropin treatment may also be beneficial for testicular development and future reproductive functions in individuals with HH [1].

It's worth noting that testosterone replacement therapy is also an option for some types of male hypogonadism, including Kallmann syndrome [6]. However, the specific treatment approach depends on the underlying cause and individual circumstances.

In terms of drug treatment specifically, it appears that gonadotropins are a key component of therapy for HH with or without anosmia. The use of GnRH agonists or antagonists may also be considered in some cases.

References:

[1] HS Lee et al., "Gonadotropin treatment for testicular development and future reproductive functions in males with hypogonadotropic hypogonadism" [1] [7] T Raivio et al., "Reversal of idiopathic hypogonadotropic hypogonadism after discontinuation of hormonal therapy" [5] [6] Kallmann syndrome treatment options, including hormone replacement therapy and GnRH agonists/antagonists [8] Pulsatile GnRH therapy for restoring LH and testosterone secretion in HH patients

The differential diagnosis for hypogonadotropic hypogonadism (HH) with or without anosmia involves several conditions that can present similarly to HH. Some of the key differentials include:

• Constitutional delay of growth and puberty: This is a common condition in children and adolescents where there is a delay in the onset of puberty, but it is not caused by any underlying hormonal imbalance. It is often more common than hypogonadism (1).
• Kallmann syndrome: This is a rare genetic disorder that is characterized by HH with or without anosmia (loss of sense of smell). It is caused by mutations in specific genes and can be distinguished from constitutional delay by the presence of anosmia (2, 6, 7).