hypogonadotropic hypogonadism 22 with or without anosmia

Clinical Features

Hypogonadotropic hypogonadism 22 with or without anosmia is a disorder characterized by absent or incomplete sexual maturation by age 18, low levels of gonadotropins and testosterone, and impaired sense of smell (anosmia) in both males and females [8].

Key Characteristics

• Absent or incomplete sexual maturation by age 18
• Low levels of gonadotropins and testosterone
• Impaired sense of smell (anosmia)
• No other abnormalities of the hypothalamic-pituitary axis

Genetic Basis

This condition is caused by a homozygous mutation in the FEZF1 gene on chromosome 7q31 [9].

Clinical Resource

For more information, please refer to clinical resources such as GeneReviews, PubMed, MedlinePlus, and clinicaltrials.gov.

References:

[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. [9] - Disease Ontology Definition:A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31.

Hypogonadotropic Hypogonadism 22 with or without Anosmia: Signs and Symptoms

Hypogonadotropic hypogonadism (HH) is a condition characterized by the failure of the testes to produce androgens and sperm, leading to delayed or absent puberty. HH can occur in conjunction with anosmia, which is a partial or total impairment of the sense of smell.

Clinical Features:

• Delayed or Absent Puberty: Individuals with HH may experience delayed or absent puberty, including lack of growth and sexual development at the standard age for puberty.
• Low Levels of Gonadotropins and Testosterone: People with HH typically have low levels of circulating gonadotropins (LH and FSH) and testosterone.
• Anosmia: Some individuals with HH may experience anosmia, which is a partial or total impairment of the sense of smell.

Additional Symptoms:

• Headaches and Visual Disturbances: In some cases, individuals with HH may experience headaches and visual disturbances, which are characteristic symptoms of a cranial base mass lesion.
• Low Libido and Infertility: Men with HH often have low libido and infertility due to the lack of testosterone production.

References:

• [7] Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. [8] At this point, low libido, infertility, or less commonly bone loss and fractures are the most common complaints.
• [9] In Kallmann syndrome, the sense of smell is either diminished (hyposmia) or completely absent (anosmia). This feature distinguishes Kallmann syndrome from other forms of hypogonadotropic hypogonadism.

Diagnostic Tests for Hypogonadotropic Hypogonadism 22 with or without Anosmia

Hypogonadotropic hypogonadism 22 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. The diagnostic tests for this condition are crucial in confirming the diagnosis.

Diagnostic Methods:

• Hormone Evaluation: This involves measuring the levels of sex steroids, gonadal peptides, and pituitary gonadotropin dosage to assess the function of the hypothalamic-pituitary-gonadal axis. [7][9]
• Evaluation of Sense of Smell: Since anosmia is a characteristic feature of Kallmann syndrome, which is a form of hypogonadotropic hypogonadism 22 with or without anosmia, assessing the sense of smell can help in diagnosing this condition. [4][7]
• Magnetic Resonance Imaging (MRI) of the Brain: MRI of the brain should be considered in cases of anosmia and suspected hypogonadotropic hypogonadism to rule out any structural abnormalities in the hypothalamic-pituitary axis. [7]

Genetic Testing:

• FEZF1 Gene Test: Genetic testing for FEZF1 gene mutations can help confirm the diagnosis of hypogonadotropic hypogonadism 22 with or without anosmia. [2][12]

Other Diagnostic Methods:

• Clinical Evaluation: A thorough clinical evaluation, including a detailed medical history and physical examination, is essential in diagnosing hypogonadotropic hypogonadism 22 with or without anosmia.
• Laboratory Tests: Laboratory tests, such as blood tests to measure hormone levels, can help confirm the diagnosis.

References:

[2] Clinical Genetic Test offered by Intergen for conditions (1): Hypogonadotropic hypogonadism 22 with or without anosmia

[4] Kotan et al. (2014) studied 4 patients from 2 unrelated consanguineous Kurdish families with hypogonadotropic hypogonadism and anosmia.

[7] Diagnostic Tests for Hypogonadotropic Hypogonadism 22 with or without Anosmia

[9] Hormone Evaluation: This involves measuring the levels of sex steroids, gonadal peptides, and pituitary gonadotropin dosage to assess the function of the hypothalamic-pituitary-gonadal axis.

[12] Hypogonadotropic hypogonadism 22 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.

Based on the search results, it appears that the treatment for hypogonadotropic hypogonadism (HH) with or without anosmia (loss of smell) involves hormone replacement therapy.

• Hormone replacement therapy is a common treatment approach for HH, and specific methods depend on the source of the issue [2].
• Pulsatile GnRH treatment or gonadotropin regimens can induce fertility in most patients [4].
• Injections of testosterone (in males), slow-release testosterone skin patch (in males), testosterone gels (in males), estrogen and progesterone therapy (in females) are some of the treatment options available [5].

It's also worth noting that sustained reversal of normosmic idiopathic hypogonadotropic hypogonadism and Kallmann syndrome was noted after discontinuation of treatment in some cases [6]. However, without treatment, most affected men and women are unable to have biological children (infertile) [1, 8].

References: [1] Context result 1 [2] Context result 2 [4] Context result 4 [5] Context result 5 [6] Context result 6 [8] Context result 8

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. The differential diagnosis of HH with or without anosmia involves distinguishing it from other conditions