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19 Possible Causes for Amenorrhea, Kallmann Syndrome, Mutation in the KISS1 Receptor Gene

  • Hypogonadotropic Hypogonadism Type 8

    Evaluation of Secondary Amenorrhea Figure 2. Algorithm for the evaluation of secondary amenorrhea.[aafp.org] Mutations involving the genes GnRH1 and KISS1, are a very rare cause of HH [41], [42].[journals.plos.org] Kallmann syndrome - absent puberty with no sense of smell. Me at 18 years old in my final year at school. I had not started puberty yet.[imgur.com]

  • Kallmann Syndrome

    These females, aged at 20 and 29-year-old, presented primary amenorrhea with prepubertal estradiol and low gonadotropin levels.[ncbi.nlm.nih.gov] Some key molecules have been discovered through the study of the genetics of CHH. 1 Inactivating mutations in genes encoding kisspeptin-1 ( KISS1 ) 40 and its receptor ( KISS1R[doi.org] Kallmann syndrome is the result of a genetic defect.[symptoma.com]

  • Hypogonadotropic Hypogonadism

    Only six cases of secondary amenorrhea have been reported to date.[ncbi.nlm.nih.gov] […] in the genes encoding GNRH1 or its receptor will result in the failure of the HPG axis and give rise to normosmic CHH. [2] Inactivating mutations of KISS1 or KISS1R causes[en.wikipedia.org] Patients with Kallmann's syndrome or idiopathic hypogonadotropic hypogonadism usually have absent puberty.[endobible.com]

  • Kallmann Syndrome Type 3

    gene (KISS1 receptor product)?[quizlet.com] […] a b c d e f g h i "Kallmann syndrome".[en.wikipedia.org] Evaluation of Secondary Amenorrhea Figure 2. Algorithm for the evaluation of secondary amenorrhea.[aafp.org]

  • Hypogonadism

    Gov't MeSH terms Adult Amenorrhea/genetics* Amenorrhea/metabolism Amenorrhea/physiopathology Chromosomes, Human, Pair 4/genetics Chromosomes, Human, X/genetics Chromosomes[ncbi.nlm.nih.gov] […] in the genes encoding GNRH1 or its receptor will result in the failure of the HPG axis and give rise to normosmic CHH. [2] Inactivating mutations of KISS1 or KISS1R causes[en.wikipedia.org] BACKGROUND: Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis.[ncbi.nlm.nih.gov]

  • Leydig Cell Hypoplasia due to LHB Deficiency

    Genetic females with these mutations have normal female external genitalia and normal female development during puberty, but may have amenorrhea (absent periods) and infertility[rarediseases.info.nih.gov] Mutations of the GnRH1 gene have also been reported in patients with hypogonadotropic hypogonadism, although they are rare.[clinicalgate.com] syndrome and GnRH insensitivity[en.wikipedia.org]

  • Kallmann Syndrome Type 4

    Amenorrhea Definition The absence of menstrual periods is called amenorrhea. Primary amenorrhea is the failure to start having a period by the age of 16.[medical-dictionary.thefreedictionary.com] […] in the genes encoding GNRH1 or its receptor will result in the failure of the HPG axis and give rise to normosmic CHH. [2] Inactivating mutations of KISS1 or KISS1R causes[en.wikipedia.org] Kallmann syndrome can have a wide variety of additional signs and symptoms.[ghr.nlm.nih.gov]

  • Hypogonadotropic Hypogonadism Type 18

    Evaluation of Secondary Amenorrhea Figure 2. Algorithm for the evaluation of secondary amenorrhea.[aafp.org] […] two novel missense mutations in the gene encoding the GNRH receptor ( GNRHR1 : NM_000406.2; HGNC: 4421), see Figure 2.[journals.plos.org] syndrome", abstract "The genetic basis is unknown for 60{\%} of normosmic hypogonadotropic hypogonadism (nHH)/Kallmann syndrome (KS).[augusta.pure.elsevier.com]

  • Hypergonadotropic Hypogonadism-Cataract Syndrome

    Med. (1986) [ Pubmed ] An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female.[wikigenes.org] Mutations involving the genes GnRH1 and KISS1, are a very rare cause of HH [41], [42].[journals.plos.org] Anosmia is a distinguishing characteristic of Kallmann syndrome from other subtypes of IHH.[omicsonline.org]

  • Primary Male Hypogonadism

    gene (KISS1 receptor product)?[quizlet.com] Secondary hypogonadism can be caused by Kallmann syndrome, pituitary or hypothalamic tumors or disorders, obesity, diabetes and Prader-Willi syndrome.[froedtert.com] Less than 9 periods a year What does primary amenorrhea mean? Failure of menarche before age 16 What does secondary amenorrhea mean?[brainscape.com]

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