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18 Possible Causes for Delayed Female Puberty, Kallmann Syndrome, Mutation in the KISS1 Receptor Gene

  • Kallmann Syndrome

    Systemic: Delayed female puberty and secondary sexual characteristics are the chief complaints in Kallmann syndrome.[symptoma.com] 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] 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]

  • Hypogonadotropic Hypogonadism

    HH is not to be confounded with delayed male puberty or delayed female puberty due to physiological variance, nutrient deficiencies, overweight/obesity or systemic diseases[symptoma.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] Patients with Kallmann's syndrome or idiopathic hypogonadotropic hypogonadism usually have absent puberty.[endobible.com]

  • Hypogonadotropic Hypogonadism Type 8

    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] E29.8 Other testicular dysfunction E29.9 Testicular dysfunction, unspecified E30 Disorders of puberty, not elsewhere classified E30.0 Delayed puberty Constitutional delay[apps.who.int]

  • 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] Health problems that may result from HH include: Delayed puberty Early menopause (in females) Infertility Low bone density and fractures later in life Low self-esteem due[medlineplus.gov]

  • Kallmann Syndrome Type 3

    See also [ edit ] Hypogonadism Hypogonadotropic hypogonadism Hypergonadotropic hypergonadism Delayed puberty and infertility Hypothalamus, pituitary gland, and HPG axis Gonads[en.wikipedia.org] gene (KISS1 receptor product)?[quizlet.com] […] a b c d e f g h i "Kallmann syndrome".[en.wikipedia.org]

  • 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] E29.8 Other testicular dysfunction E29.9 Testicular dysfunction, unspecified E30 Disorders of puberty, not elsewhere classified E30.0 Delayed puberty Constitutional delay[apps.who.int]

  • Leydig Cell Hypoplasia due to LHB Deficiency

    . 9 In this report, we describe a female with isolated FSH deficiency who presented with delayed puberty.[nejm.org] 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]

  • Hypogonadotropic Hypogonadism Type 18

    Delayed puberty: analysis of a large case series from an academic center. J Clin Endocrinol Metab 87:1613-1620, 2002. 4. Grinspon RP, Rey RA.[siicsalud.com] […] 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]

  • Primary Male Hypogonadism

    […] that are neither clearly male nor clearly female Underdeveloped male genitals Puberty Male hypogonadism may delay puberty or cause incomplete or lack of normal development[mayoclinic.org] 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]

  • Male Hypogonadism

    In some cases, male hypogonadism may impair or delay puberty.[rejuvchip.com] gene (KISS1 receptor product)?[quizlet.com] Disorders Causing Pituitary Hypogonadism Brain and pituitary tumors Hemochromatosis Kallmann syndrome Weight loss Obesity Diabetes Testicular Disorders Causing Hypogonadism[louisville.edu]