About 393 results

ALLMedicine™ Kallmann Syndrome Center

Research & Reviews  151 results

Kallmann syndrome and idiopathic hypogonadotropic hypogonadism: The role of semaphorin ...
Handbook of Clinical Neurology; Cariboni A, Balasubramanian R

Jul 17th, 2021 - Idiopathic hypogonadotropic hypogonadism and Kallmann syndrome are rare genetic disorders characterized by isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) and delayed or absent puberty. Defective GnRH neuron migration during develo...

A Novel Noncanonical Splicing Mutation of ANOS1 Gene in Siblings with Kallmann Syndrome...
https://doi.org/10.1007/s43032-021-00672-6 10.1016/j.fertnstert.2018.09.012 10.1016/S2213-8587(16)30043-2 10.1038/353529a0 10.1016/j.gene.2019.144177 10.1038/nrendo.2015.112 10.1016/j.metabol.2017.10.012 10.1210/jc.2005-2793 10.1016/0378-1119(94)90567-3 10.1073/pnas.1101135108
Reproductive Sciences (Thousand Oaks, Calif.); Xia Y, Guo H et. al.

Jul 8th, 2021 - Kallmann syndrome (KS) is a rare genetic disorder that is characterized by idiopathic hypogonadotropic hypogonadism associated with anosmia. Genetic variants in ANOS1 gene are the most common mutations associated with X-linked recessive form of KS...

Advances in Genetic Diagnosis of Kallmann Syndrome and Genetic Interruption.
https://doi.org/10.1007/s43032-021-00638-8 10.1186/1750-1172-6-41 10.1210/er.2015-1045.2016.110.1210/er.2015-1045.2016.1.test 10.1210/jcem.81.12.8954047 10.1007/s00018-005-5604-3 10.1038/ejhg.2008.206 10.1523/JNEUROSCI.0867-10.2010 10.1016/j.stem.2008.03.005 10.1523/JNEUROSCI.6087-10.2011 10.1038/232496a0 10.1210/er.2009-0023 10.1038/338161a0 10.1073/pnas.86.20.8132 10.1002/(SICI)1096-9861(19960311)366:3<547::AID-CNE12>3.0.CO;2-M 10.1242/dev.139444 10.1016/0169-328x(89)90076-4 10.1016/S2213-8587(15)00418-0 10.1097/MED.0000000000000339 10.1016/s0022-3476(75)80969-3 10.1016/s0022-3476(99)70244-1 10.1038/nrendo.2015.112 10.3109/00016349409006255 10.1212/wnl.52.4.816 10.1111/j.1365-263X.2010.01056.x 10.1597/1545-1569_1997_034_0417_cmipwk_2.3.co_2 10.1210/jc.2012-4116 10.1507/endocrj.ej12-0134 10.1210/er.2018-00116 10.2500/ajr.2007.21.3043 10.1210/jc.2011-2041 10.1210/jc.2004-2465 10.3174/ajnr.A3946 10.1016/j.ando.2016.12.003 10.1038/353529a0 10.6061/clinics/2013(sup01)06 10.1002/(SICI)1097-0177(199905)215:1<26::AID-DVDY4>3.0.CO;2-D 10.1038/nrendo.2009.177 10.1210/jcem.82.1.3692 10.1093/molehr/gan027 10.1530/EJE-17-0335 10.1016/s0092-8674(00)00100-8 10.1038/ng1122 10.1159/000312693 10.1073/pnas.0600962103 10.1210/jc.2004-1361 10.4274/jcrpe.2017.S010 10.1016/s0925-4773(00)00518-9 10.1210/jc.2003-030476 10.1111/j.1460-9568.2007.05958.x 10.1371/journal.pgen.0020175 10.1126/science.1112103 10.1073/pnas.0508881103 10.1210/jc.2008-0958 10.1038/ng1407 10.1111/j.1399-0004.2008.01107.x 10.1016/j.ajhg.2008.09.005 10.1210/jc.2014-2110 10.1530/EJE-17-0749 10.1126/science.8202715 10.1038/gim.2017.197 10.6065/apem.2018.23.2.57 10.1056/NEJMcp1109290 10.1046/j.1365-2265.2001.01277.x 10.1056/NEJM199702063360604 10.1210/jc.2010-0245 10.1016/j.metabol.2017.10.012 10.1186/1750-1172-1-34 10.1159/000438841 10.1136/jmg.2010.087106 10.3109/09513590.2012.752459 10.1210/jc.2013-2809 10.1056/NEJMoa066494 10.1016/j.ogc.2017.02.004 10.1002/pd.1970120104 10.1016/j.beem.2014.10.005 10.5603/GP.2016.0037 10.1007/s11427-014-4683-5 10.1126/science.1229164 10.1073/pnas.1523297113 10.1016/j.jgg.2016.03.011 10.1007/s10815-017-1018-z 10.1080/19396368.2019.1590479 10.1016/j.jgg.2019.04.003 10.1007/s10815-019-01434-9 10.1007/s10815-019-01604-9
Reproductive Sciences (Thousand Oaks, Calif.); Liu Y, Zhi X

Jul 8th, 2021 - Kallmann syndrome (KS) is a rare hereditary disease with high phenotypic and genetic heterogeneity. Congenital hypogonadotropic hypogonadism and hyposmia/anosmia are the two major characterized phenotypes of KS. Besides, mirror movements, dental a...

Gonadotropin Therapy Once a Week for Spermatogenesis in Hypogonadotropic Hypogonadism.
Endocrine Practice : Official Journal of the American Col... Ma W, Mao J et. al.

Apr 30th, 2021 - Hypogonadotropic hypogonadism (HH) can be caused by congenital HH (CHH), pituitary stalk interruption syndrome (PSIS), and pituitary injury (acquired HH). Gonadotropin therapy, typically administrated every other day or twice a week, is a common m...

Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q...
European Journal of Endocrinology; Iivonen AP, Kärkinen J et. al.

Apr 29th, 2021 - Patients with deletions on chromosome 9q31.2 may exhibit delayed puberty, craniofacial phenotype including cleft lip/palate, and olfactory bulb hypoplasia. We report a patient with congenital HH with anosmia (Kallmann syndrome, KS) and a de novo 2...

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Clinicaltrials.gov  4 results

Examination of Idiopathic Hypogonadotropic Hypogonadism (IHH)and Kallmann Syndrome (KS)

Feb 17th, 2020 - The specific aims of this study are: To identify men and women with hypogonadotropic hypogonadism and to define the spectrum of abnormalities in GnRH secretion in these patients. To study the physiology and control of the reproductive system in th...

Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders

Feb 17th, 2020 - Overview: Our work is divided into two main areas of investigation: the discovery of new, yet-undiscovered genes for conditions of early (i.e. precocious) puberty, delayed puberty, and/or absence of pubertal development (i.e. Kallmann syndrome/hyp...

Health Needs of Patients With Kallmann Syndrome

Sep 29th, 2017 - This study aims to examine the experiences of patients diagnosed with Kallmann syndrome (KS)/congenital hypogonadotropic hypogonadism (CHH). The study includes two parts: online survey (less than 30 minutes to complete) focus groups with KS/CHH pa...

A Study to Characterize Epidemiology, Clinical and Genetic Features of Kallmann Syndrome in Finland

Feb 25th, 2008 - Kallmann syndrome is comprised of idiopathic hypogonadotropic hypogonadism and anosmia (inability to smell). Associated phenotypes may include cryptorchidism, microphallus, bone deformations, mirror movements, hearing loss and infertility. Objecti...

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News  2 results

Replacement of Male Mini-Puberty

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...

Replacement of Male Mini-Puberty

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...

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