ALLMedicine™ Kallmann Syndrome Center
Research & Reviews 401 results
https://doi.org/10.1210/clinem/dgab169
The Journal of Clinical Endocrinology and Metabolism; Ostertag A, Papadakis GE et. al.
Mar 16th, 2021 - Men with Congenital Hypogonadotropic Hypogonadism (CHH) and Kallmann syndrome (KS) have both low circulating testosterone and estradiol levels. Whether bone structure is affected remains unknown. To characterize bone geometry, volumetric density a...
https://doi.org/10.1038/s41436-020-01087-5 10.1073/pnas.86.20.8132 10.1242/dev.139444 10.1038/338161a0 10.1038/nrn3302 10.1159/000431021 10.1172/JCI78448 10.1371/journal.pgen.1002896 10.1038/nsmb.2416 10.1523/JNEUROSCI.5075-06.2007 10.1093/hmg/ddx080 10.1016/j.cell.2010.04.041 10.1038/gim.2015.30 10.1073/pnas.1009622107 10.1210/jc.2013-2809 10.1111/cge.13482 10.1093/hmg/ddx408 10.15252/emmm.201607376 10.1210/jc.2002-020518 10.1093/humrep/des022 10.3389/fnins.2016.00549 10.1210/en.2007-1562 10.1523/JNEUROSCI.2521-09.2009 10.1016/j.cell.2018.12.009 10.1006/dbio.1994.1319 10.1016/0306-4522(92)90094-I 10.1038/ng.3551 10.3389/fncel.2012.00028 10.1093/hmg/ddq468 10.1038/ng.306 10.1210/en.2011-1949 10.1056/NEJMoa1111184 10.1056/NEJMoa035322 10.1210/en.2007-0078 10.1016/j.yfrne.2017.07.008 10.1038/s41598-019-51201-0
Genetics in Medicine : Official Journal of the American C... Kotan LD, Ternier G et. al.
Jan 26th, 2021 - Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by absent puberty and subsequent infertility due to gonadotropin-releasing hormone (GnRH) deficiency. IHH can be accompanied by normal or compromised olfaction (Kallmann syndrome). Se...
https://doi.org/10.1038/s41436-020-01051-3 10.1016/j.ajhg.2017.04.005 10.1016/j.neuron.2010.09.042 10.1002/humu.21583 10.1016/j.ajhg.2013.03.024 10.1016/j.mce.2011.07.012 10.3174/ajnr.A3367 10.1159/000436965 10.1016/j.gene.2019.03.039 10.1038/pr.2014.60 10.1530/EJE-18-0764 10.1038/s41586-020-2308-7 10.1002/humu.21438 10.1086/302895 10.1016/j.ajhg.2018.08.016 10.1038/nprot.2009.86 10.1093/nar/gky1016 10.1016/j.ajhg.2016.08.016 10.1107/S2053230X1501969X 10.1073/pnas.1009622107 10.1016/j.ajhg.2015.06.009 10.1093/hmg/ddv215 10.1093/hmg/ddm262 10.1038/ng1322 10.1242/bio.20135249 10.1016/S0012-1606(03)00039-3 10.1523/JNEUROSCI.6087-10.2011 10.1002/bdrc.21074 10.1210/jc.2004-2465 10.1093/humrep/dez040 10.1007/s12020-014-0434-4 10.1002/ajmg.a.32403 10.1002/ajmg.a.40362 10.1093/hmg/ddn110 10.1111/cen.13231 10.6065/apem.2015.20.1.27 10.1016/j.ejmg.2012.07.002 10.1086/522090 10.1007/s004310000624
Genetics in Medicine : Official Journal of the American C... Rojas RA, Kutateladze AA et. al.
Jan 14th, 2021 - SOX10 variants previously implicated in Waardenburg syndrome (WS) have now been linked to Kallmann syndrome (KS), the anosmic form of idiopathic hypogonadotropic hypogonadism (IHH). We investigated whether SOX10-associated WS and IHH represent ele...
https://doi.org/10.1016/j.beem.2020.101475
Best Practice & Research. Clinical Endocrinology & Metabo... Thakker S, Persily J et. al.
Jan 9th, 2021 - The understanding of male factors of infertility has grown exponentially in the past ten years. While clear guidelines for obstructive azoospermia have been developed, management of non-obstructive azoospermia has lagged. Specifically, management ...
https://doi.org/10.1007/s11011-020-00654-8 10.1210/jc.2008-0958 10.1210/jc.2007-2654 10.1007/s10545-014-9687-6 10.1002/pd.355 10.1016/j.ymgme.2009.07.014 10.1097/MD.0000000000007974 10.1002/jimd.12129 10.1186/s13023-014-0161-1 10.1007/s10545-016-9991-4 10.1186/1750-1172-6-41 10.1038/ng1683 10.1007/s10545-010-9161-z 10.3109/09513590.2012.752459 10.3390/ijms20133140 10.1159/000312698 10.1096/fj.13-243402 10.1016/j.metabol.2017.10.012 10.2147/NDT.S196924 10.1007/s10545-014-9791-7 10.5582/irdr.2018.01026 10.1007/s10545-011-9426-1
Metabolic Brain Disease; Yuan H, Deng S et. al.
Jan 7th, 2021 - Cobalamin C (cblC) disease and Kallmann syndrome (KS) are rare hereditary diseases. To date, no report has described the coexistence of those two genetic disorders in the same patient, or an association between them. We report the case of a 23-yea...
Clinicaltrials.gov 405 results
https://doi.org/10.1210/clinem/dgab169
The Journal of Clinical Endocrinology and Metabolism; Ostertag A, Papadakis GE et. al.
Mar 16th, 2021 - Men with Congenital Hypogonadotropic Hypogonadism (CHH) and Kallmann syndrome (KS) have both low circulating testosterone and estradiol levels. Whether bone structure is affected remains unknown. To characterize bone geometry, volumetric density a...
https://doi.org/10.1038/s41436-020-01087-5 10.1073/pnas.86.20.8132 10.1242/dev.139444 10.1038/338161a0 10.1038/nrn3302 10.1159/000431021 10.1172/JCI78448 10.1371/journal.pgen.1002896 10.1038/nsmb.2416 10.1523/JNEUROSCI.5075-06.2007 10.1093/hmg/ddx080 10.1016/j.cell.2010.04.041 10.1038/gim.2015.30 10.1073/pnas.1009622107 10.1210/jc.2013-2809 10.1111/cge.13482 10.1093/hmg/ddx408 10.15252/emmm.201607376 10.1210/jc.2002-020518 10.1093/humrep/des022 10.3389/fnins.2016.00549 10.1210/en.2007-1562 10.1523/JNEUROSCI.2521-09.2009 10.1016/j.cell.2018.12.009 10.1006/dbio.1994.1319 10.1016/0306-4522(92)90094-I 10.1038/ng.3551 10.3389/fncel.2012.00028 10.1093/hmg/ddq468 10.1038/ng.306 10.1210/en.2011-1949 10.1056/NEJMoa1111184 10.1056/NEJMoa035322 10.1210/en.2007-0078 10.1016/j.yfrne.2017.07.008 10.1038/s41598-019-51201-0
Genetics in Medicine : Official Journal of the American C... Kotan LD, Ternier G et. al.
Jan 26th, 2021 - Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by absent puberty and subsequent infertility due to gonadotropin-releasing hormone (GnRH) deficiency. IHH can be accompanied by normal or compromised olfaction (Kallmann syndrome). Se...
https://doi.org/10.1038/s41436-020-01051-3 10.1016/j.ajhg.2017.04.005 10.1016/j.neuron.2010.09.042 10.1002/humu.21583 10.1016/j.ajhg.2013.03.024 10.1016/j.mce.2011.07.012 10.3174/ajnr.A3367 10.1159/000436965 10.1016/j.gene.2019.03.039 10.1038/pr.2014.60 10.1530/EJE-18-0764 10.1038/s41586-020-2308-7 10.1002/humu.21438 10.1086/302895 10.1016/j.ajhg.2018.08.016 10.1038/nprot.2009.86 10.1093/nar/gky1016 10.1016/j.ajhg.2016.08.016 10.1107/S2053230X1501969X 10.1073/pnas.1009622107 10.1016/j.ajhg.2015.06.009 10.1093/hmg/ddv215 10.1093/hmg/ddm262 10.1038/ng1322 10.1242/bio.20135249 10.1016/S0012-1606(03)00039-3 10.1523/JNEUROSCI.6087-10.2011 10.1002/bdrc.21074 10.1210/jc.2004-2465 10.1093/humrep/dez040 10.1007/s12020-014-0434-4 10.1002/ajmg.a.32403 10.1002/ajmg.a.40362 10.1093/hmg/ddn110 10.1111/cen.13231 10.6065/apem.2015.20.1.27 10.1016/j.ejmg.2012.07.002 10.1086/522090 10.1007/s004310000624
Genetics in Medicine : Official Journal of the American C... Rojas RA, Kutateladze AA et. al.
Jan 14th, 2021 - SOX10 variants previously implicated in Waardenburg syndrome (WS) have now been linked to Kallmann syndrome (KS), the anosmic form of idiopathic hypogonadotropic hypogonadism (IHH). We investigated whether SOX10-associated WS and IHH represent ele...
https://doi.org/10.1016/j.beem.2020.101475
Best Practice & Research. Clinical Endocrinology & Metabo... Thakker S, Persily J et. al.
Jan 9th, 2021 - The understanding of male factors of infertility has grown exponentially in the past ten years. While clear guidelines for obstructive azoospermia have been developed, management of non-obstructive azoospermia has lagged. Specifically, management ...
https://doi.org/10.1007/s11011-020-00654-8 10.1210/jc.2008-0958 10.1210/jc.2007-2654 10.1007/s10545-014-9687-6 10.1002/pd.355 10.1016/j.ymgme.2009.07.014 10.1097/MD.0000000000007974 10.1002/jimd.12129 10.1186/s13023-014-0161-1 10.1007/s10545-016-9991-4 10.1186/1750-1172-6-41 10.1038/ng1683 10.1007/s10545-010-9161-z 10.3109/09513590.2012.752459 10.3390/ijms20133140 10.1159/000312698 10.1096/fj.13-243402 10.1016/j.metabol.2017.10.012 10.2147/NDT.S196924 10.1007/s10545-014-9791-7 10.5582/irdr.2018.01026 10.1007/s10545-011-9426-1
Metabolic Brain Disease; Yuan H, Deng S et. al.
Jan 7th, 2021 - Cobalamin C (cblC) disease and Kallmann syndrome (KS) are rare hereditary diseases. To date, no report has described the coexistence of those two genetic disorders in the same patient, or an association between them. We report the case of a 23-yea...
News 2 results
https://www.medscape.com/viewarticle/916021_2
Materials and Methods Patients Ten neonates and infants were included, all with bilateral cryptorchidism in the intra-abdominal or inguinal position and micropenis ≤2 cm (≤2 SDS).[14] The absence of neonatal male mini-puberty was confirmed with at...
https://www.staging.medscape.com/viewarticle/916021_2
Materials and Methods Patients Ten neonates and infants were included, all with bilateral cryptorchidism in the intra-abdominal or inguinal position and micropenis ≤2 cm (≤2 SDS).[14] The absence of neonatal male mini-puberty was confirmed with at...
