4 free views remaining today
hypogonadotropic hypogonadism 2 with or without anosmia
ICD-10 Codes
Related ICD-10:
Description
Hypogonadotropic Hypogonadism 2 with or without Anosmia: A Complex Endocrine Disorder
Hypogonadotropic hypogonadism 2 with or without anosmia is a rare genetic disorder characterized by the underproduction of sex hormones, leading to incomplete sexual maturation and infertility. This condition affects both males and females, although it is more commonly diagnosed in males.
Key Features:
- Absent or Incomplete Sexual Maturation: Individuals with this condition often experience delayed or absent puberty, resulting in a lack of secondary sex characteristics.
- Low Levels of Gonadotropins: The disorder is characterized by low levels of gonadotropin-releasing hormone (GnRH) and luteinizing hormone (LH), which are essential for the production of sex hormones.
- Anosmia (Optional): Some individuals with hypogonadotropic hypogonadism 2 may also experience anosmia, a loss of sense of smell.
Causes and Genetics:
- Genetic Mutation: The disorder is caused by mutations in the KAL1 gene, which codes for a protein involved in the development of the hypothalamus and pituitary gland.
- Inheritance Pattern: Hypogonadotropic hypogonadism 2 with or without anosmia is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition.
Diagnosis and Treatment:
- Clinical Evaluation: Diagnosis is typically made through clinical evaluation, including physical examination, medical history, and laboratory tests.
- Hormone Replacement Therapy: Treatment often involves hormone replacement therapy (HRT) to stimulate the production of sex hormones and promote sexual maturation.
- Surgical Intervention: In some cases, surgical intervention may be necessary to correct anatomical abnormalities.
References:
- [6] Hypogonadotropic hypogonadism 2 with or without anosmia is a disorder characterized by absent or incomplete sexual maturation by age 18, low levels of circulating gonadotropins and ...
- [8] A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and ...
- [9] Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).
Additional Characteristics
- Clinical Evaluation
- Hormone Replacement Therapy
- Surgical Intervention
- Genetic Mutation
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Absent or Incomplete Sexual Maturation
- Low Levels of Gonadotropins
- Anosmia (Optional)
- Inheritance Pattern: Autosomal Dominant
Signs and Symptoms
Hypogonadotropic hypogonadism, also known as Kallmann syndrome when associated with anosmia (loss of smell), is a rare genetic disorder that affects the production of sex hormones. The signs and symptoms of this condition can vary from person to person but often include:
- Delayed or absent puberty: Individuals with hypogonadotropic hypogonadism may experience delayed or absent pubertal development, including delayed growth spurts, lack of breast development in females, and small testes in males.
- Low sex hormone levels: The condition is characterized by low levels of sex hormones, such as testosterone and estrogen, which can lead to a range of symptoms.
- Infertility: Hypogonadotropic hypogonadism can cause infertility in both males and females due to the lack of sex hormone production.
- Reduced libido: Individuals with this condition often experience reduced or absent libido (sex drive).
- Erectile dysfunction: Males may experience erectile dysfunction, which is a common symptom of low testosterone levels.
- Breast development in males: Some individuals with hypogonadotropic hypogonadism may develop breast tissue due to the conversion of androgens to estrogens.
- Loss of body hair: Individuals with this condition may experience loss of body hair, particularly pubic and axillary hair.
It's essential to note that the symptoms of hypogonadotropic hypogonadism can be similar to those of other conditions, such as Klinefelter syndrome or Turner syndrome. A comprehensive medical evaluation, including genetic testing, is necessary to confirm the diagnosis.
References:
- [2] Symptoms highly suggestive of hypogonadism include decreased spontaneous erections, decreased nocturnal penile tumescence, decreased libido, and ...
- [8] Hypogonadotropic hypogonadism is characterized by low serum oestradiol, FSH and LH levels and is caused by hypothalamic or pituitary failure.
- [9] Sep 19, 2023 — Hypothalamic Hypogonadism Symptoms · Loss of interest in sex (libido) in men · Loss of menstrual periods (amenorrhea) in women · Decreased energy ...
- [5] Men with hypogonadism have a decreased sex drive, muscle loss and breast development. If the cause is a brain tumor, symptoms may include headaches or vision ...
Additional Symptoms
- Delayed or absent puberty
- Erectile dysfunction
- Reduced libido
- Low sex hormone levels
- Breast development in males
- Loss of body hair
- Decreased spontaneous erections
- Decreased nocturnal penile tumescence
- infertility
Diagnostic Tests
Diagnostic Tests for Hypogonadotropic Hypogonadism 2 with or without Anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia is a disorder characterized by absent or incomplete sexual maturation, low levels of circulating gonadotropins and testosterone. Diagnostic tests are essential to confirm the diagnosis.
Initial Laboratory Testing
The initial laboratory testing should include early morning measurement of serum:
- Testosterone: This test helps to determine if there is a deficiency in testosterone production.
- Prolactin: Elevated prolactin levels can indicate an issue with the pituitary gland.
- FSH (Follicle-Stimulating Hormone): Measuring FSH is particularly important as it has a longer half-life and demonstrates less variability than LH. Low FSH levels can confirm hypogonadotropic hypogonadism.
- LH (Luteinizing Hormone): This test helps to determine if there is an issue with the pituitary gland's ability to stimulate testosterone production.
Additional Diagnostic Tests
In some cases, additional diagnostic tests may be necessary to rule out other conditions that can cause similar symptoms. These may include:
- Imaging studies: To evaluate the structure and function of the hypothalamus, pituitary gland, and gonads.
- Genetic testing: To identify genetic mutations that can cause hypogonadotropic hypogonadism 2 with or without anosmia.
Diagnostic Teams
A diagnostic team for hypogonadotropic hypogonadism 2 with or without anosmia may include:
- Endocrinologists
- Reproductive endocrinologists
- Geneticists
- Neurologists
These specialists work together to diagnose and manage the condition, and provide guidance on treatment options.
References
- [1] Initial laboratory testing should include early morning measurement of serum testosterone, prolactin, FSH, and LH levels. (Source: #10)
- [2] FSH measurement is particularly important because FSH has a longer half-life, is more sensitive, and demonstrates less variability than LH. (Source: #11)
- [3] Additional diagnostic tests may be necessary to rule out other conditions that can cause similar symptoms. (Source: #12)
Treatment
Treatment Options for Hypogonadotropic Hypogonadism 2 (HH2) with or without Anosmia
Hypogonadotropic hypogonadism 2 (HH2) is a rare genetic disorder characterized by delayed or absent puberty, low levels of gonadotropins, and often associated with anosmia (loss of sense of smell). Treatment options for HH2 are focused on managing the symptoms and improving fertility.
- Pulsatile GnRH Therapy: This treatment involves administering pulsatile injections of Gonadotropin-Releasing Hormone (GnRH) to stimulate the production of gonadotropins, leading to increased testosterone levels and spermatogenesis. Studies have shown that this therapy can induce fertility in most patients with HH2 [4][7].
- Gonadotropin Regimens: In some cases, gonadotropin regimens may be used to stimulate the production of testosterone and sperm. This treatment is typically reserved for patients who do not respond to pulsatile GnRH therapy or have specific contraindications.
- Testosterone Replacement Therapy (TRT): While TRT is primarily used to treat hypergonadotropic hypogonadism, it may also be considered in some cases of HH2 with non-gonadal factors reducing health status. However, the use of TRT for symptomatic men with low testosterone and non-gonadal factors remains a topic of controversy [14].
Key Points
- Pulsatile GnRH therapy is a effective treatment option for inducing fertility in patients with HH2.
- Gonadotropin regimens may be used as an alternative or adjunct to pulsatile GnRH therapy.
- Testosterone replacement therapy should be considered on a case-by-case basis, taking into account the underlying causes of hypogonadism and non-gonadal factors.
References
[4] Young J. (2019). Hypogonadotropic hypogonadism 2 with or without anosmia: A comprehensive review. [Cited by 342]
[7] Raivio T. (2007). Sustained reversal of normosmic idiopathic hypogonadotropic hypogonadism and the Kallmann syndrome was noted after discontinuation of treatment. [Cited by 475]
[14] Organic male hypogonadism due to irreversible hypothalamic–pituitary–testicular (HPT) pathology is easily diagnosed and treated with testosterone-replacement therapy. However, controversy surrounds the global practice of prescribing testosterone to symptomatic men with low testosterone and non-gonadal factors reducing health status.
Recommended Medications
- Pulsatile GnRH Therapy
- Testosterone Replacement Therapy
- Gonadotropin Regimens
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
The differential diagnosis for hypogonadotropic hypogonadism 2 (HH2) with or without anosmia involves distinguishing it from other conditions that present with similar symptoms. According to the provided context, the main differential diagnoses include:
- Constitutional delay of puberty: This is a more common condition than HH2 and can be distinguished by its earlier onset and spontaneous resolution.
- Primary hypogonadism: This condition is characterized by elevated levels of LH and FSH, which is in contrast to the low or normal values seen in HH2.
To further narrow down the differential diagnosis, it's essential to consider the genetic basis of HH2. The condition is caused by heterozygous mutations in the FGFR1 gene on chromosome 8p11, sometimes associated with mutations in other genes such as FGF8 and GNRHR [13].
In terms of clinical presentation, individuals with HH2 may exhibit delayed puberty, which 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 [14]. This can be distinguished from constitutional delay by its earlier onset and spontaneous resolution.
It's also worth noting that Kallmann syndrome, a developmental genetic disorder characterized by congenital hypogonadotropic hypogonadism (CHH) due to GnRH deficiency, with anosmia or hyposmia, is another condition that may be considered in the differential diagnosis [15].
In summary, the differential diagnosis for HH2 with or without anosmia involves distinguishing it from constitutional delay of puberty, primary hypogonadism, and Kallmann syndrome, among other conditions. A thorough evaluation of clinical presentation, genetic basis, and laboratory findings is essential to arrive at an accurate diagnosis.
Additional Differential Diagnoses
- Constitutional delay of puberty
- Primary hypogonadism
- Kallmann syndrome
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#hasDbXref
- MIM:147950
- oboInOwl#id
- DOID:0090083
- core#notation
- DOID:0090083
- IAO_0000115
- A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes.
- rdf-schema#label
- hypogonadotropic hypogonadism 2 with or without anosmia
- rdf-schema#subClassOf
- t361840
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000147
- relatedICD
- http://example.org/icd10/E23.0
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_4296
- owl#annotatedSource
- t362058
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.