ALLMedicine™ Kallmann Syndrome Center
Research & Reviews 151 results
https://doi.org/10.1016/B978-0-12-819973-2.00022-8
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...
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...
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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...
https://doi.org/10.1016/j.eprac.2021.04.009
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...
https://doi.org/10.1530/EJE-20-1387
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...
Clinicaltrials.gov 4 results
https://clinicaltrials.gov/ct2/show/NCT00392756
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...
https://clinicaltrials.gov/ct2/show/NCT00494169
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...
https://clinicaltrials.gov/ct2/show/NCT01914172
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...
https://clinicaltrials.gov/ct2/show/NCT00623116
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...
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...
