hypogonadotropic hypogonadism 15 with or without anosmia

Hypogonadotropic Hypogonadism 15 with or without Anosmia: A Disorder Characterized by Absent or Incomplete Sexual Maturation

Hypogonadotropic hypogonadism 15 with or without anosmia 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) [4]. This condition is also referred to as Kallmann syndrome (KS) when it presents with anosmia [5].

Key Features:

• Absent or incomplete sexual maturation by age 18
• Low levels of gonadotropins (LH and FSH)
• May be associated with anosmia (loss of smell)

Inheritance Pattern: This disorder is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is sufficient to cause the condition [8].

Causes: The cause of hypogonadotropic hypogonadism 15 with or without anosmia is a mutation in the HS6ST1 gene on chromosome 2q14 [7]. This genetic mutation affects the production of gonadotropins, leading to the characteristic features of this disorder.

References:

[4] Context result 6 [5] Context result 5 [7] Context result 7 [8] Context result 8

Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) is a rare genetic disorder that affects the production of sex hormones. The signs and symptoms of HH15 can vary from person to person, but they often include:

• Infertility: This is one of the most common symptoms of HH15, as the condition affects the production of sex hormones necessary for fertility.
• Delayed or absent puberty: People with HH15 may experience delayed or absent puberty, which can lead to a range of physical and emotional changes.
• Decreased libido: A decrease in libido (sex drive) is also a common symptom of HH15.
• Erectile dysfunction: Men with HH15 may experience erectile dysfunction due to the lack of testosterone production.
• Gynecomastia: Some people with HH15 may develop breast tissue (gynecomastia) due to an imbalance of sex hormones.

It's worth noting that these symptoms can be similar to those experienced by individuals with other conditions, such as Kallmann syndrome or idiopathic hypogonadotropic hypogonadism. However, the presence of anosmia (a reduced sense of smell) is a distinctive feature of HH15.

According to medical research [8], susceptibility to hypogonadotropic hypogonadism-15 with or without anosmia (HH15) can be associated with other symptoms such as cleft palate and hearing loss. However, these symptoms may not be present in all individuals with HH15.

References: [1] - # is used with this entry because of evidence that susceptibility to hypogonadotropic hypogonadism-15 with or without anosmia (HH15) can be associated with other symptoms such as cleft palate and hearing loss. [8] - A number sign (#) is used with this entry because of evidence that susceptibility to hypogonadotropic hypogonadism-15 with or without anosmia (HH15) can be associated with other symptoms such as cleft palate and hearing loss.

Diagnostic Tests for Hypogonadotropic Hypogonadism 15 with or without Anosmia

Hypogonadotropic hypogonadism 15 with or without anosmia is a disorder characterized by absent or incomplete sexual maturation, low levels of gonadotropins and testosterone. The diagnosis of this condition involves a combination of clinical symptoms, hormone testing, and genetic analysis.

Clinical Features and Hormone Testing

• Delayed or absent puberty
• Low levels of gonadotropins (FSH and LH)
• Low levels of testosterone

These features are often used to identify patients who may be candidates for further diagnostic testing. [1][2]

Genetic Analysis

• Genetic testing for the HS6ST1 gene, which is associated with hypogonadotropic hypogonadism 15 with or without anosmia
• Sequence analysis of the entire coding region and Next-Generation (NGS)/Massively parallel sequencing (MPS) with CNV detection included offered by LifeLabs Genetics [10]

Clinical Molecular Genetics Test

Treatment Options for Hypogonadotropic Hypogonadism (HH) and Kallmann Syndrome

Hypogonadotropic hypogonadism, also known as Kallmann syndrome when accompanied by anosmia (loss of sense of smell), is a condition characterized by delayed or absent puberty. The treatment options for HH and Kallmann syndrome focus on hormone replacement therapy to stimulate the production of sex hormones.

• Hormone Replacement Therapy (HRT): HRT is the primary treatment for HH and Kallmann syndrome. It involves administering hormones, such as testosterone in males and estrogen in females, to stimulate the production of sex hormones.
  • Testosterone: Testosterone replacement therapy can be administered through injections, slow-release skin patches, or gels. This helps to induce puberty and maintain normal levels of testosterone in males [5].
  • Estrogen and progesterone: In females, estrogen and progesterone replacement therapy may be necessary to stimulate the production of sex hormones and regulate menstrual cycles [8].

Other Treatment Options

In addition to HRT, other treatment options are available for HH and Kallmann syndrome:

• Pulsatile GnRH treatment: Pulsatile administration of gonadotropin-releasing hormone (GnRH) can stimulate the production of sex hormones in individuals with HH [4].
• Gonadotropin regimens: Gonadotropins, such as human chorionic gonadotropin (hCG), can be used to stimulate ovulation and fertility in females with HH [4].

Importance of Early Treatment

Early treatment is essential for individuals with HH and Kallmann syndrome. Without treatment, most affected men and women are unable to have biological children due to infertility [1, 8]. Additionally, delayed or absent puberty can lead to various physical and psychological complications.

References:

[1] Delayed puberty in males and females due to hypogonadotropic hypogonadism (HH) without treatment. [4] Pulsatile GnRH treatment for HH. [5] Testosterone replacement therapy for males with HH. [8] Kallmann syndrome: a condition characterized by delayed or absent puberty, anosmia, and infertility.

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

• Structural abnormalities: The hypothalamic-pituitary-gonadal axis can be affected by structural abnormalities, such as tumors or cysts in the hypothalamus or pituitary gland [10].
• Functional abnormalities: Functional abnormalities, including GnRH deficiency, can also lead to HH [9].
• Genetic mutations: Genetic mutations related to gonadotropin deficiency, such as those affecting the FGFR1 and FGF8 genes, can cause HH with or without anosmia [7].
• Kallmann syndrome: Kallmann syndrome is a specific condition characterized by HH and anosmia, caused by mutations in the CHD7 gene [5].
• Constitutional delay: Constitutional delay of growth and puberty (CDGP) can present with similar clinical features to HH, including delayed or absent puberty [12].
• Adrenal disorders: Adrenal disorders, such as congenital adrenal hyperplasia (CAH), can also be considered in the differential diagnosis of HH [15].

It's essential to note that the presence of anosmia can help differentiate between Kallmann syndrome and other conditions. A thorough evaluation, including genetic testing and imaging studies, is necessary to determine the underlying cause of HH.

References:

[5] by J Young · 2019 [7] by DJP Hardelin · 1998 [9] by DJP Hardelin · 2003 [10] Rosen SW. 1982 Syndrome of anosmia with hypogonadotropic hypogonadism (Kallmann syndrome). American Journal ... [12] Delayed puberty is defined as absent testicular enlargement in boys or breast development in girls at an age that is 2 to 2.5 SDS later than the mean age at which these events occur in the population (traditionally, 14 years in boys and 13 years in girls). [15] Kallman syndrome (KS) refers to the combination of hypogonadotropic hypogonadism and anosmia.