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1,427 Possible Causes for Kallmann Syndrome, Mutation in the KISS1 Receptor Gene, Thelarche Delayed or Absent

  • Hypogonadotropic Hypogonadism Type 8

    Mutations involving the genes GnRH1 and KISS1, are a very rare cause of HH [41], [42].[journals.plos.org] Schlüsselwörter Kallmann-Syndrom - hypogonadotroper Hypogonadismus - Anosmie - Genetik Keywords Kallmann’s syndrome - hypogonadotropic hypogonadism - anosmia - genetics[thieme-connect.com] 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 Type 3

    gene (KISS1 receptor product)?[quizlet.com] […] a b c d e f g h i "Kallmann syndrome".[en.wikipedia.org] Kallmann syndrome.[misc.medscape.com]

  • Kallmann Syndrome Type 4

    […] 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] […] a b c d e f g h i "Kallmann syndrome".[en.wikipedia.org]

  • Hypogonadotropic Hypogonadism Type 22

    Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). Hum Mutat 2005;25:98–9. PubMed Crossref Google Scholar 3.[degruyter.com] Kallmann syndrome – absent or impaired puberty.[kallmannsyndrome.wordpress.com] Kallmann's syndrome: is it always for life?. Clin Endocrinol (Oxf). 1999 Apr. 50(4):481-5. [Medline]. Rugarli EI, Ballabio A. Kallmann syndrome.[emedicine.medscape.com]

    Missing: Mutation in the KISS1 Receptor Gene
  • Hypogonadism

    […] 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] Kallmann syndrome) as well as normal puberty that is accompanied by an altered reproductive system later in life (i.e. ...[centerwatch.com]

    Missing: Thelarche Delayed or Absent
  • Kallmann Syndrome

    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] Mutations in some genes seem to cause just KS ( KAL1 ) or just nHH (such as ligand/receptor pairs GNRH1/GNRHR, LEP/LEPR, KISS1/KISS1R, and TACR3/ TAC3 ; and rarely NR0B1 or[doi.org]

    Missing: Thelarche Delayed or Absent
  • Hypogonadotropic Hypogonadism

    […] 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] Mutations involving the genes GnRH1 and KISS1, are a very rare cause of HH [41], [42].[journals.plos.org]

    Missing: Thelarche Delayed or Absent
  • Hypogonadotropic Hypogonadism Type 18

    […] identified 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] In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed[uniprot.org]

    Missing: Thelarche Delayed or Absent
  • Leydig Cell Hypoplasia due to LHB Deficiency

    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] syndrome Leydig cell hypoplasia Leydig cell hypoplasia due to LHB deficiency Leydig cell hypoplasia due to complete LH resistance Leydig cell hypoplasia due to partial LH[se-atlas.de]

    Missing: Thelarche Delayed or Absent
  • 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] Treatment of Kallmann syndrome with hCG can correct cryptorchidism and establish fertility. Puberty is typically induced using testosterone injectable or gel.[merckmanuals.com]

    Missing: Thelarche Delayed or Absent