hypogonadotropic hypogonadism 23 with or without anosmia

Characteristics of Hypogonadotropic Hypogonadism 23

Hypogonadotropic hypogonadism 23 (HH23) is a rare genetic disorder characterized by absent or incomplete sexual maturation, low levels of gonadotropins, and reduced or absent spermatogenesis in males. This condition is caused by homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13.

Key Features:

• Absent or incomplete sexual maturation
• Low levels of gonadotropins (LH and FSH)
• Reduced or absent spermatogenesis in males
• Normal sexual differentiation in males
• Absence of spontaneous puberty

Additional Information:

HH23 is a form of hypogonadism that affects the pituitary gland or hypothalamus, leading to reduced production of gonadotropins. Some individuals with this condition may also experience anosmia (loss of sense of smell). The symptoms and characteristics of HH23 are similar to those of Kallmann syndrome, but the presence of anosmia distinguishes them.

References:

• [1] - Absent or incomplete sexual maturation by age 18 is a characteristic of HH23.
• [4] - Males with HH23 have normal sexual differentiation, reduced or absent Leydig cells, and reduced or absent spermatogenesis.
• [7] - Low levels of gonadotropins (LH and FSH) are a hallmark of HH23.
• [8] - The LHB gene mutation is responsible for the development of HH23.

Based on the search results, here are the signs and symptoms of hypogonadotropic hypogonadism (HH) 23 with or without anosmia:

Common symptoms:

• Delayed or incomplete puberty [1]
• Low sex hormone levels (estrogen in males, testosterone in females)
• Decreased muscle mass and strength
• Osteoporosis
• Sleep disturbances
• Decreased libido
• Muscle atrophy

Specific symptoms related to HH 23:

• Hypogonadotropic hypogonadism is a condition where the hypothalamus or pituitary gland does not produce enough gonadotropin-releasing hormone (GnRH), leading to low sex hormone levels [4]
• Symptoms may include decreased spontaneous erections, decreased nocturnal penile tumescence, decreased libido, and other signs of hypogonadism [7]

Additional symptoms:

• Anosmia (loss of smell) is a common feature in some cases of HH 23
• Other symptoms may include headaches or vision problems if the cause is a brain tumor

It's essential to consult a healthcare professional for an accurate diagnosis and treatment plan, as hypogonadotropic hypogonadism can have various causes and effects on individuals.

References:

[1] Delayed puberty due to hypogonadism [4] Hypogonadotropic hypogonadism: a condition of low sex hormone levels [7] Symptoms of hypogonadism in males, including decreased libido and muscle atrophy

Based on the search results, here are some diagnostic tests that may be relevant for hypogonadotropic hypogonadism 3 with or without anosmia:

• Blood tests to measure hormone levels such as FSH, LH, TSH, prolactin, testosterone and estradiol [7]
• LH response to GnRH [7]
• MRI of the pituitary gland [7]

Additionally, genetic testing may also be considered for individuals with hypogonadotropic hypogonadism 3 with or without anosmia. The Genetic Testing Registry lists PROKR2 as a gene associated with this condition [4].

It's worth noting that the diagnosis of hypogonadotropic hypogonadism 3 with or without anosmia may involve a combination of clinical evaluation, laboratory tests, and genetic testing.

References: [4] - Genetic Testing Information. Genetic Testing Registry: Hypogonadotropic hypogonadism 3 with or without anosmia From the National Institutes ... [7] - Jul 30, 2023 — Blood tests to measure hormone levels such as FSH, LH, TSH, prolactin, testosterone and estradiol · LH response to GnRH · MRI of the pituitary ...

Hypogonadotropic hypogonadism (HH) with or without anosmia, also known as Kallmann syndrome, is a disorder characterized by delayed or absent puberty and an impaired sense of smell. In terms of drug treatment for this condition, there are several options available.

Gonadotropin therapy: This involves administering gonadotropins, such as human menopausal gonadotropin (hMG), to stimulate the production of sex hormones. This can be effective in inducing fertility and promoting puberty in individuals with HH [10].

Testosterone replacement therapy: For males with hypogonadotropic hypogonadism, testosterone replacement therapy may be necessary to address low levels of testosterone. This can be administered through injections, skin patches, or gels [6].

Fertility medications: In cases where fertility is desired, medications such as clomiphene citrate and human chorionic gonadotropin (hCG) may be used to stimulate ovulation in females or sperm production in males [5].

It's essential to note that treatment should be individualized and tailored to the specific needs of each patient. A healthcare professional can provide guidance on the most suitable treatment options.

References: [6] - Treatment · Injections of testosterone (in males) · Slow-release testosterone skin patch (in males) · Testosterone gels (in males) · Estrogen and ... [5] - by J Young · 2019 · Cited by 342 — Finally, fertility can be induced with pulsatile GnRH treatment or gonadotropin regimens in most patients. [10] - Around 50–60% of the affected individuals exhibit anosmia or hyposmia in association with IHH, defining Kallmann syndrome.

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

Hypogonadotropic hypogonadism (HH) is a form of infertility that occurs when impaired pituitary or hypothalamic function leads to low serum LH and FSH, and consequently low levels of gonadal steroids [3]. The differential diagnosis of HH includes structural, functional, and genetic abnormalities affecting the hypothalamic-pituitary-gonadal axis [12].

Structural Abnormalities

• Tumors of the hypothalamic-pituitary region or systemic diseases can cause HH [3].
• Congenital anomalies, such as pituitary hypoplasia or aplasia, can also lead to HH [15].

Functional Abnormalities

• GnRH deficiency is a common cause of HH, which can be due to hypothalamic or pituitary dysfunction [5].
• Inactivating mutations in the KISS1 gene, which encodes kisspeptin, can prevent the activation of GnRH neurons, leading to isolated hypogonadotropic hypogonadism (IHH) with or without anosmia [13].

Genetic Abnormalities

• Mutations in genes involved in the hypothalamic-pituitary-gonadal axis, such as KISS1, GNRH, and FSHR, can cause HH [14].
• Genetic testing should be offered to hypogonadal patients interested in fertility [14].

Other Causes

• Central precocious puberty (CPP) can contribute to the development of HH due to excessive GnRH secretion [13].
• Inactivating mutations in the KISS1 gene can also lead to IHH with or without anosmia [13].

In conclusion, the differential diagnosis of hypogonadotropic hypogonadism (HH) with or without anosmia is a complex and multifactorial process that involves structural, functional, and genetic abnormalities affecting the hypothalamic-pituitary-gonadal axis.

References: [3] Context reference 3 [12] Context reference 12 [13] Context reference 13 [14] Context reference 14