Immunocytochemistry confirmed that both mutants are present on the cell membrane albeit at low levels. [risweb.st-andrews.ac.uk]

Presentation [ edit ] Congenital hypogonadotropic hypogonadism presents as hypogonadism, e.g., reduced or absent puberty, [1] low libido, infertility, etc. due to an impaired release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing [en.wikipedia.org]

Besides, both patients presented a homozygous p.E90K mutation in GNRHR that had been previously reported. We found a novel mutation in PROK2 in two siblings in whom a mutation in the GNRHR gene had been previously reported. [ncbi.nlm.nih.gov]

Although more than 24 genes have been described to be involved in CHH, molecular variants of these do not presently explain more than 35-45% of reported cases. [moh-it.pure.elsevier.com]

Unusual presentation of more common disease/injury Idiopathic hypogonadotropic hypogonadism reversal after testosterone replacement in a 34-year-old male Owais Rashid 1, Nanik Ram 1, Saad Farooq 2, Zareen Kiran 1 1 Department of Endocrinology, Aga Khan [casereports.bmj.com]

• Male Hypogonadism

  Male hypogonadism is characterized by impaired testicular function, which can affect spermatogenesis and/or testosterone synthesis. [dnatesting.uchicago.edu]

  Fluoxymesterone An anabolic steroid that has been used in the treatment of male HYPOGONADISM, delayed puberty in males, and in the treatment of breast neoplasms in women. [bioportfolio.com]

• Developmental Disorder

  Idiopathic hypogonadotropic hypogonadism (IHH) due to defects of gonadotropin-releasing hormone (GnRH) secretion and/or action is a developmental disorder of sexual maturation. [scienceopen.com]

• Suggestibility

  GNRHR1 mutations, present in a compound heterozygous state, whereas their unaffected parents possessed only one inactivating mutation, demonstrating the autosomal recessive transmission in this kindred and excluding X-linked inheritance equivocally suggested [risweb.st-andrews.ac.uk]

  S4), suggest that in fact these variants did not affect the structure and the function of NK3R. Panel A. [br.123dok.com]

  One patient had a heterozygous GNRHR mutation associated with a heterozygous PROKR2 mutation, thus suggesting a possible role of synergistic heterozygosity in the pathogenesis of the disorder. [ncbi.nlm.nih.gov]

  This suggests an existence of several other candidate genes or environmental factors underlying these syndromes. [karger.com]

  However, the occurrence of severe genital anomalies, such as hypospadias, likely suggests the presence of a human chorionic gonadotropin deficiency. [synapse.koreamed.org]

• Peripheral Neuropathy

  Finally, hypogonadotropic hypogonadism can be a component of complex syndromes with multiple somatic abnormalities, such as morbid obesity ( Prader-Willi ), cerebellar ataxia (26), cranial nerves palsies and peripheral neuropathy (27), congenital spherocy-tosis [78stepshealth.us]

• Oligomenorrhea

  […] very mild form, CHH can be restricted to isolated chronic anovulation, whereas estradiol secretion is adequate for endometrial development and therefore associated with the existence of a single menstruation (primosecondary amenorrhea) or even chronic oligomenorrhea [em-consulte.com]

The major challenges associated with the treatment and management of CHH/KS include the appropriate timing of the treatment and how to promote adherence to treatment, especially during the transitioning of young adults from pediatric to adult care because [synapse.koreamed.org]

Patients typically require lifelong treatment and special attention to complications such as osteoporosis, infertility and type 2 diabetes mellitus ( 3 ). [edmcasereports.com]

Rapidly consult with trusted authorities thanks to new expert-opinion treatment strategies and recommendations. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

Reversal of hypogonadism may occur in some patients receiving gonadotropins; thus short periods of interruption of treatment are advised. [journals.lww.com]

You can help by adding to it. ( November 2017 ) Treatment [ edit ] This section is empty. [en.wikipedia.org]

The involvement of genes implicated in the etiology of midline defects in patients with KS warrants further studies. © 2012 S. [karger.com]

Rescue of Hypogonadotropic Hypogonadism-Causing and Manufactured GnRH Receptor Mutants by a Specific Protein-Folding Template: Misrouted Proteins as a Novel Disease Etiology and Therapeutic Target. [endojournals.ru]

Although these genes may be implicated in the etiology of approximately 50% of CHH/KS cases, the mutations in each of the genes account for less than 10% of such cases; furthermore, the majority of the underlying mechanisms have yet to be fully characterized [synapse.koreamed.org]

Genatlas disease for GNRHR Gene idiopathic hypogonadotropic hypogonadism Relevant External Links for GNRHR Genetic Association Database (GAD) GNRHR Human Genome Epidemiology (HuGE) Navigator GNRHR Atlas of Genetics and Cytogenetics in Oncology and Haematology [genecards.org]

[…] idiopathic hypogonadotropic hypogonadism Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility Classification (ICD10): - Endocrine, nutritional and metabolic diseases - Epidemiological [csbg.cnb.csic.es]

Epidemiologic studies have led to the division of febrile seizures into 3 groups, as follows: Simple febrile seizures Complex febrile seizures Symptomatic febrile seizures Children with simple febrile seizures are neurologically and developmentally healthy [centogene.com]

[…] described the phenotype and prevalence of CCDC141 mutations in idiopathic hypogonadotropic hypogonadism/Kallmann syndrome confirmed that inactivating CCDC141 variants cause normosmic idiopathic hypogonadotropic hypogonadism but not Kallmann syndrome. [24] Epidemiology [emedicine.medscape.com]

Epidemiology. 1997;8:537–44. View Article PubMed Google Scholar Azevedo L, Mort M, Costa AC, Silva RM, Quelhas D, Amorim A, et al. Improving the in silico assessment of pathogenicity for compensated variants. Eur J Hum Genet. 2016;25:2–7. [humgenomics.biomedcentral.com]

In the absence of animal models, studies of human neuroendocrine phenotypes associated with neurokinin B and NK3R receptor dysfunction can help to decipher the pathophysiology of this signaling pathway. [pubfacts.com]

Kallmann syndrome caused by mutations in the PROK2 and PROKR2 genes: pathophysiology and genotype-phenotype correlations. Front Horm Res 2010;39:121–32. Crossref PubMed Google Scholar 22. Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, et al. [degruyter.com]

Pathophysiology Deficient hypothalamic GnRH secretion underlies the markedly abnormal gonadotropin secretion patterns in most patients with Kallmann syndrome or idiopathic hypogonadotropic hypogonadism. [emedicine.medscape.com]

Gonadotropin-Releasing Hormone Deficiency in the Human (Idiopathic Hypogonadotropic Hypogonadism and Kallmann’s Syndrome): Pathophysiological and Genetic Considerations. Endocrine Reviews. 1998;19(5):521-539. doi: 10.1210/edrv.19.5.0344. [endojournals.ru]

Early intervention can prevent low bone density and related complications, and also provides the opportunity for early family planning. [dnatesting.uchicago.edu]

In one patient, isolated bioinactive luteinizing hormone (LH) was present as a result of a homozygous mutation in the LH beta subunit gene, which prevented binding of LH to its receptor. [emedicine.medscape.com]

Treatment aims to promote the development of secondary sex characteristics, build and sustain normal bone and muscle mass, restore fertility and prevent long-term metabolic complications of hypogonadism such as developing type 2 diabetes mellitus ( 3 [edmcasereports.com]

Because the initial differentiation and migration of the GnRH precursor cells appeared to be normal, it was speculated that the subsequent axonal elongation, path-finding, and/or terminal differentiation processes might have been disrupted and prevented [synapse.koreamed.org]