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14 Possible Causes for Kallmann Syndrome, Microphallus, Mutation in the KISS1 Receptor Gene

  • 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] The twins manifested with microphallus, cryptorchidism, and deficient postnatal activation of the hypothalamic-pituitary-gonadal axis, findings consistent with IHH.[ncbi.nlm.nih.gov] 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] As a result, he had a full-skin exam and was found to have a microphallus, undescended testes, and minimal pubic hair distribution. He had a normal sense of smell.[omicsonline.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 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] A large proportion of these subjects report a history of cryptorchidism (40%) or microphallus (20%) (46).[78stepshealth.us] Kallmann syndrome can have a wide variety of additional signs and symptoms.[ghr.nlm.nih.gov]

  • Kallmann Syndrome Type 3

    gene (KISS1 receptor product)?[quizlet.com] […] a b c d e f g h i "Kallmann syndrome".[en.wikipedia.org] As a result, he had a full-skin exam and was found to have a microphallus, undescended testes, and minimal pubic hair distribution. He had a normal sense of smell.[omicsonline.org]

  • 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] Other manifestations include microphallus, cryptorchidism, midline defects, and unilateral kidney agenesis.[msdmanuals.com] 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]

  • Hypogonadotropic Hypogonadism Type 18

    […] two novel missense mutations in the gene encoding the GNRH receptor ( GNRHR1 : NM_000406.2; HGNC: 4421), see Figure 2.[journals.plos.org] As a result, he had a full-skin exam and was found to have a microphallus, undescended testes, and minimal pubic hair distribution. He had a normal sense of smell.[omicsonline.org] syndrome", abstract "The genetic basis is unknown for 60{\%} of normosmic hypogonadotropic hypogonadism (nHH)/Kallmann syndrome (KS).[augusta.pure.elsevier.com]

  • 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] Analysis of our case series and literature review suggests the consideration of KS for males with microphallus and/or cryptorchidism and for any patient with hearing loss,[ncbi.nlm.nih.gov] Kallmann syndrome is the result of a genetic defect.[symptoma.com]

  • Anorchia

    gene (KISS1 receptor product)?[quizlet.com] Physical examination may reveal microphallus or normal external male genitalia with bilateral or unilateral palpable intrascrotal or inguinal masses or no palpable masses.[symptoma.com] Conditions associated with hypogonadotropic hypogonadism Kallmann syndrome Anosmia (lack of sense of smell) or hyposmia is a prominent feature of Kallmann syndrome, which[emedicine.medscape.com]

  • 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] Other manifestations include microphallus, cryptorchidism, midline defects, and unilateral kidney agenesis.[merckmanuals.com]

  • Hypergonadotropic Hypogonadism-Cataract Syndrome

    Mutations involving the genes GnRH1 and KISS1, are a very rare cause of HH [41], [42].[journals.plos.org] As a result, he had a full-skin exam and was found to have a microphallus, undescended testes, and minimal pubic hair distribution. He had a normal sense of smell.[omicsonline.org] . - microphallus and cryptochism or severely atrophic testes - color blindness, deafness, cleft palate - low testosterone, low LH, and low FSH Fertility and virility are restored[quizlet.com]